lod score

Summary

Summary: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."

Top Publications

  1. ncbi Atherosclerosis susceptibility loci identified from a strain intercross of apolipoprotein E-deficient mice via a high-density genome scan
    Jonathan D Smith
    Department of Cell Biology, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    Arterioscler Thromb Vasc Biol 26:597-603. 2006
  2. ncbi Genetics of gene expression surveyed in maize, mouse and man
    Eric E Schadt
    Rosetta Inpharmatics, LLC, 12040 115th Avenue N E, Kirkland, Washington 98034, USA
    Nature 422:297-302. 2003
  3. ncbi Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 50:3291-303. 2009
  4. ncbi Statistical confidence for likelihood-based paternity inference in natural populations
    T C Marshall
    Institute of Cell, Animal and Population Biology, University of Edinburgh, UK
    Mol Ecol 7:639-55. 1998
  5. ncbi Genetic control of susceptibility to Candida albicans in susceptible A/J and resistant C57BL/6J mice
    A Tuite
    Department of Biochemistry, Center for the Study of Host Resistance, McGill University, 3655 Promenade Sir William Osler, Rm 907, Montreal, Quebec, Canada H3G 1Y6
    Genes Immun 6:672-82. 2005
  6. pmc Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    Z M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
    Am J Hum Genet 69:25-34. 2001
  7. ncbi Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus
    Baorong Zhang
    Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
    Mol Vis 13:1674-9. 2007
  8. pmc Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study
    Larry D Atwood
    Department of Neurology, School of Medicine, Boston University, Boston, MA 02118, USA
    Am J Hum Genet 71:1044-50. 2002
  9. ncbi A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
    Manabu Funayama
    Departments of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan
    Ann Neurol 51:296-301. 2002
  10. pmc A major susceptibility locus on chromosome 22q12 plays a critical role in the control of kala-azar
    Bruno Bucheton
    INSERM U399, Immunology and Genetics of Parasitic Diseases, Faculté de médecine La Timone, Paris, France
    Am J Hum Genet 73:1052-60. 2003

Research Grants

Detail Information

Publications298 found, 100 shown here

  1. ncbi Atherosclerosis susceptibility loci identified from a strain intercross of apolipoprotein E-deficient mice via a high-density genome scan
    Jonathan D Smith
    Department of Cell Biology, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    Arterioscler Thromb Vasc Biol 26:597-603. 2006
    ..This study aimed to determine the genetic regions associated with strain effects on lesion area...
  2. ncbi Genetics of gene expression surveyed in maize, mouse and man
    Eric E Schadt
    Rosetta Inpharmatics, LLC, 12040 115th Avenue N E, Kirkland, Washington 98034, USA
    Nature 422:297-302. 2003
    ..We identify a gene expression pattern strongly associated with obesity in a murine cross, and observe two distinct obesity subtypes. Furthermore, we find that these obesity subtypes are under the control of different loci...
  3. ncbi Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    Lars Hansen
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Invest Ophthalmol Vis Sci 50:3291-303. 2009
    ..Seven families have been published previously, and the data of the remaining 21 families are presented together with an overview of the results in all families...
  4. ncbi Statistical confidence for likelihood-based paternity inference in natural populations
    T C Marshall
    Institute of Cell, Animal and Population Biology, University of Edinburgh, UK
    Mol Ecol 7:639-55. 1998
    ..CERVUS can be used to calculate allele frequencies, run simulations and perform parentage analysis using data from all types of codominant markers...
  5. ncbi Genetic control of susceptibility to Candida albicans in susceptible A/J and resistant C57BL/6J mice
    A Tuite
    Department of Biochemistry, Center for the Study of Host Resistance, McGill University, 3655 Promenade Sir William Osler, Rm 907, Montreal, Quebec, Canada H3G 1Y6
    Genes Immun 6:672-82. 2005
    ..albicans...
  6. pmc Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
    Z M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD, USA
    Am J Hum Genet 69:25-34. 2001
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F...
  7. ncbi Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus
    Baorong Zhang
    Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
    Mol Vis 13:1674-9. 2007
    ..Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN...
  8. pmc Genomewide linkage analysis of body mass index across 28 years of the Framingham Heart Study
    Larry D Atwood
    Department of Neurology, School of Medicine, Boston University, Boston, MA 02118, USA
    Am J Hum Genet 71:1044-50. 2002
    ..It is unclear whether the variation in LOD scores in these regions is due to age effects, varying sample size, or other confounding factors...
  9. ncbi A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
    Manabu Funayama
    Departments of Pediatrics, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan
    Ann Neurol 51:296-301. 2002
    ..23-q13.11. This chromosome region is different from any known locus for hereditary parkinsonism, in keeping with the unique genetic features of the parkinsonism in this family. The nomenclature of PARK8 was assigned to the new locus...
  10. pmc A major susceptibility locus on chromosome 22q12 plays a critical role in the control of kala-azar
    Bruno Bucheton
    INSERM U399, Immunology and Genetics of Parasitic Diseases, Faculté de médecine La Timone, Paris, France
    Am J Hum Genet 73:1052-60. 2003
    ..Significant linkage (LOD score 3.50 [P=3x10-5] in all patients; LOD score 3...
  11. pmc Poor performance of bootstrap confidence intervals for the location of a quantitative trait locus
    Ani Manichaikul
    Department of Biostatistics, Johns Hopkins University, Baltimore, Maryland 21205 2179, USA
    Genetics 174:481-9. 2006
    ..Likelihood support intervals and approximate Bayes credible intervals, on the other hand, are shown to behave appropriately...
  12. ncbi Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15
    Abee L Boyles
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Am J Med Genet A 140:2776-85. 2006
    ..5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions...
  13. ncbi Inclusive composite interval mapping (ICIM) for digenic epistasis of quantitative traits in biparental populations
    Huihui Li
    School of Mathematical Sciences, Beijing Normal University, Beijing 100875, China
    Theor Appl Genet 116:243-60. 2008
    ..Simulated populations and one barley doubled haploids (DH) population were used to demonstrate the efficiency of ICIM in mapping both additive QTL and digenic interactions...
  14. pmc Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family
    Hsiang Cheng Chen
    Duke University Medical Center, Durham, NC 27710, USA
    Arthritis Rheum 62:781-90. 2010
    ..The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify genetic susceptibility loci for OA...
  15. pmc A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4
    A A Puca
    Howard Hughes Medical Institute, Genetics Division, Children s Hospital, and Harvard Medical School, Boston, MA 02215, USA
    Proc Natl Acad Sci U S A 98:10505-8. 2001
    ..Identification of the genes in humans that allow certain individuals to live to extreme old age should lead to insights on cellular pathways that are important to the aging process...
  16. ncbi Exon skipping in the KIT gene causes a Sabino spotting pattern in horses
    Samantha A Brooks
    Department of Veterinary Science, 108 Gluck Equine Research Center, University of Kentucky, Lexington, Kentucky 40546 0099, USA
    Mamm Genome 16:893-902. 2005
    ....
  17. pmc Variations in DNA elucidate molecular networks that cause disease
    Yanqing Chen
    Rosetta Inpharmatics, LLC, Merck and Co, Inc, 401 Terry Avenue North, Seattle, Washington 98109, USA
    Nature 452:429-35. 2008
    ..Our analysis provides direct experimental support that complex traits such as obesity are emergent properties of molecular networks that are modulated by complex genetic loci and environmental factors...
  18. ncbi Parentage assignment and extra-group paternity in a cooperative breeder: the Seychelles warbler (Acrocephalus sechellensis)
    D S Richardson
    Department of Animal and Plant Sciences, University of Sheffield, Sheffield, S10 2TN, UK
    Mol Ecol 10:2263-73. 2001
    ..Forty-four per cent of helpers bred successfully, accounting for 15% of all offspring. Forty per cent of young resulted from extra-group paternity...
  19. ncbi A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family
    Yanhua Qi
    Department of Ophthalmology, The Second Affiliated Hospital, Haerbin Medical University, Haerbin, 150086 Heilongjiang, P R China
    Hum Genet 114:192-7. 2004
    ..1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294...
  20. ncbi PSMD9 gene in the NIDDM2 locus is linked to type 2 diabetes in Italians
    Claudia Gragnoli
    Department of Medicine, Cellular and Molecular Physiology, Biostatistics, Laboratory of Molecular Genetics of Monogenic and Complex Disorders, M S Hershey Medical Center, Penn State University College of Medicine, Hershey, Pennsylvania, PA 17033, USA
    J Cell Physiol 222:265-7. 2010
    ..Our results show a consistent significant LOD score in linkage with T2D for each single PSMD9 SNP variant (IVS3 + nt460A, P = 3.546E - 007, IVS3 + nt437T, P = 7...
  21. ncbi Identification of pathways for atherosclerosis in mice: integration of quantitative trait locus analysis and global gene expression data
    Susanna S Wang
    Department of Human Genetics, University of California at Los Angeles, Los Angeles, CA 90095 1679, USA
    Circ Res 101:e11-30. 2007
    ..Thus, global gene expression in peripheral tissues can reflect the systemic perturbations that contribute to atherosclerosis...
  22. pmc A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
    Lu Zhang
    Eye Hospital, The First Affiliated Hospital, Harbin Medical University, Harbin, China
    Mol Vis 15:276-82. 2009
    ..To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea...
  23. ncbi Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  24. ncbi Quantitative locus analysis of airway hyperresponsiveness in A/J and C57BL/6J mice
    G T De Sanctis
    Combined Program in Pulmonary and Critical Care Medicine, Brigham Women s Hospital, Boston, Massachusetts 02115, USA
    Nat Genet 11:150-4. 1995
    ..Each of these loci maps near candidate loci implicated in the pathobiology of asthma. Our study represents the first linkages established through a genome-wide survey of airway hyperresponsiveness in any mammal...
  25. pmc A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
    Guoxing Yang
    Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Mol Vis 17:1320-3. 2011
    ..The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of autosomal dominant congenital nuclear cataract disease in a Chinese family...
  26. pmc A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans
    R Duggirala
    Division of Clinical Epidemiology, Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA
    Am J Hum Genet 66:1237-45. 2000
    ..This putative locus appears to have a major influence on ln TG variation...
  27. ncbi A retrospective assessment of the accuracy of the paternity inference program CERVUS
    J Slate
    Institute of Cell, Animal and Population Biology, University of Edinburgh, West Mains Road, EH9 3JT, UK
    Mol Ecol 9:801-8. 2000
    ..The actual confidence of CERVUS-assigned paternities was not significantly different from that predicted by simulation...
  28. ncbi A genome-wide scan for coronary heart disease suggests in Indo-Mauritians a susceptibility locus on chromosome 16p13 and replicates linkage with the metabolic syndrome on 3q27
    S Francke
    Institute of Biology, CNRS UPRES A 8090, Pasteur Institute of Lille, 1, rue du Pr Calmette, B P 447, 59021 Lille Cedex, France
    Hum Mol Genet 10:2751-65. 2001
    ..These results show the first evidence for susceptibility loci that predispose to CHD, T2DM and HBP in the context of the metabolic syndrome...
  29. pmc Identification of Soat1 as a quantitative trait locus gene on mouse chromosome 1 contributing to hyperlipidemia
    Zongji Lu
    Department of Radiology and Medical Imaging, University of Virginia, Charlottesville, Virginia, United States of America
    PLoS ONE 6:e25344. 2011
    ..Trangenic expression of C3H Soat1 in B6.apoE(-/-) mice resulted in elevations of plasma cholesterol and triglyceride levels. These results indicate that Soat1 is a QTL gene contributing to hyperlipidemia...
  30. ncbi Determining trait locus position from multipoint analysis: accuracy and power of three different statistics
    D A Greenberg
    Department of Psychiatry, Mount Sinai School of Medicine, New York, New York 10029, USA
    Genet Epidemiol 21:299-314. 2001
    Previous work using two-point linkage analysis showed that performing a lod score (LOD) analysis twice, once assuming dominant and once assuming recessive inheritance, and then taking the larger of the two values (designated MMLS) ..
  31. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
    ..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
  32. ncbi Effect of misspecification of gene frequency on the two-point LOD score
    D K Pal
    Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029, USA
    Eur J Hum Genet 9:855-9. 2001
    ..model for gene frequency and inheritance are misspecified in the analysis, can this lead to a higher maximum LOD score than that obtained under the true parameters? Linkage data simulated under simple dominant, recessive, dominant ..
  33. pmc Adjusted P values for genome-wide scans
    Theodore C Lystig
    Department of Mathematical Statistics, Chalmers University of Technology, Eklandagatan 86, 412 96 Goteborg, Sweden
    Genetics 164:1683-7. 2003
    ..This provides a visible gradation of genome-wide significance for the LOD score curve, instead of the stark dichotomy that a single threshold yields...
  34. ncbi A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2
    A G Comuzzie
    Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78245 0549, USA
    Nat Genet 15:273-6. 1997
    ..74 cM from the tip of the short arm) and showed strong evidence of linkage with serum leptin levels with a lod score of 4.95 (P = 9 x 10(-7))...
  35. ncbi Development of genetic maps of the citrus varieties 'Murcott' tangor and 'Pera' sweet orange by using fluorescent AFLP markers
    Antonio Carlos de Oliveira
    Department of Natural Sciences, Southwest State University of Bahia, Bahia, Brazil
    J Appl Genet 48:219-31. 2007
    ..0 (LOD score >or= 3.0 and <or= 0.40) and JoinMap 3.0 software (LOD score >or= 3.0 and theta <or = 0.25), respectively...
  36. ncbi Inferential testing for linkage with GENEHUNTER-MODSCORE: the impact of the pedigree structure on the null distribution of multipoint MOD scores
    Manuel Mattheisen
    Institute for Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany
    Genet Epidemiol 32:73-83. 2008
    ..By performing simulations in the context of MOD-score analysis, our new tool efficiently explores the linkage data in a comprehensive way and also provides a valid method to inferentially test for linkage...
  37. pmc A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
    L Moynihan
    Molecular Medicine Unit, St James s University Hospital, Leeds, United Kingdom
    Am J Hum Genet 66:724-7. 2000
    ..The minimal critical region is approximately 12 cM, being defined by the markers cen-D9S1872-D9S159-tel, with a maximum two-point LOD score of 3.76 (recombination fraction 0) observed for the marker D9S290.
  38. ncbi NEUROG3 variants and type 2 diabetes in Italians
    E Milord
    Millennium Pharmaceuticals, Inc, Cambridge, MA, USA
    Minerva Med 97:373-8. 2006
    ..The goal of this study was to establish whether NEUROG3 gene variants are contributing to T2D in an Italian T2D cohort...
  39. ncbi A substitution of arginine to lysine at the COOH-terminus of MIP caused a different binocular phenotype in a congenital cataract family
    Hui Lin
    Department of Ophthalmology, The Second Affiliated Hospital, Harbin Medical University, Harbin, China
    Mol Vis 13:1822-7. 2007
    ..To detect the cataractogenetic mutation for a six-generation family of Chinese origin with autosomal dominant binocular polymorphic cataracts...
  40. ncbi Replication of the recessive STBMS1 locus but with dominant inheritance
    Aine Rice
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
    Invest Ophthalmol Vis Sci 50:3210-7. 2009
    ..The purpose of this study was to determine the frequency of STBMS1 as a cause of primary nonsyndromic comitant esotropia (PNCE)...
  41. pmc Overdominant epistatic loci are the primary genetic basis of inbreeding depression and heterosis in rice. I. Biomass and grain yield
    Z K Li
    Plant Breeding, Genetics, and Biochemistry Division, International Rice Research Institute, Metro Manila, The Philippines
    Genetics 158:1737-53. 2001
    ..These observations tend to implicate epistasis and overdominance, rather than dominance, as the major genetic basis of heterosis in rice. The implications of our results in rice evolution and improvement are discussed...
  42. ncbi A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family
    Xiaobo Gao
    Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, Beijing, China
    Curr Eye Res 35:597-604. 2010
    ..To identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital nuclear cataract...
  43. ncbi Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
    R Wooster
    Section of Molecular Carcinogenesis, Institute of Cancer Research, Sutton, Surrey, UK
    Science 265:2088-90. 1994
    ..Preliminary evidence suggests that BRCA2 confers a high risk of breast cancer but, unlike BRCA1, does not confer a substantially elevated risk of ovarian cancer...
  44. pmc A combined analysis of genomewide linkage scans for body mass index from the National Heart, Lung, and Blood Institute Family Blood Pressure Program
    Xiaodong Wu
    Department of Preventive Medicine and Epidemiology, Loyola University Medical Center, Maywood, IL 60153, USA
    Am J Hum Genet 70:1247-56. 2002
    ....
  45. ncbi Obesity QTLs on mouse chromosomes 2 and 17
    B A Taylor
    The Jackson Laboratory, Bar Harbor, Maine 04609 1500, USA
    Genomics 43:249-57. 1997
    ..One QTL affecting adiposity, Obq3, was mapped to a 39-cM segment near the middle of Chromosome 2, with a peak lod score (5.1) just distal to the D2Mit15 locus...
  46. pmc Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
    P Szepetowski
    The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Am J Hum Genet 61:889-98. 1997
    ..for the disease gene was obtained in the pericentromeric region of chromosome 16, with a maximum two-point LOD score, for D16S3133, of 6.76 at a recombination fraction of 0...
  47. pmc A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population
    Fan Liu
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Am J Hum Genet 81:17-31. 2007
    ..Simulations aiming to evaluate the effect of pedigree splitting on false-positive probabilities showed that a LOD score of 3.64 corresponds to 5% genomewide type I error...
  48. ncbi Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2
    T V McCarthy
    Department of Biochemistry, University College, Cork, Ireland
    Nature 343:562-4. 1990
    ..between MHS and DNA markers from the GPI region of human chromosome 19 with a maximum log likelihood ratio (lod score) of 5.65 at the CYP2A locus...
  49. ncbi Genetic obesity unmasks nonlinear interactions between murine type 2 diabetes susceptibility loci
    J P Stoehr
    Department of Biochemistry, University of Wisconsin Madison, USA
    Diabetes 49:1946-54. 2000
    ..Amplification of the genetic signal from these latent diabetes susceptibility alleles in F2-ob/ob mice permitted discovery of an interaction between the two loci that substantially increased the risk of severe type 2 diabetes...
  50. ncbi A genome wide scan for early onset primary hypertension in Scandinavians
    Fredrik von Wowern
    Department of Endocrinology, Malmo University Hospital, SE 205 02, Malmo, Sweden
    Hum Mol Genet 12:2077-81. 2003
    ..Loci obtaining nominal P</=0.016 (LOD score >/= 1.0) were fine mapped with additional markers...
  51. ncbi Resting metabolic rate and respiratory quotient: results from a genome-wide scan in the Quebec Family Study
    Peter Jacobson
    Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA 70808, USA
    Am J Clin Nutr 84:1527-33. 2006
    ....
  52. ncbi PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair M Ahmed
    Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
    Hum Mol Genet 12:3215-23. 2003
    ..Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function...
  53. pmc A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree
    Xuchen Ding
    Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China
    Mol Vis 17:1343-9. 2011
    ..To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts...
  54. pmc Bayesian LASSO for quantitative trait loci mapping
    Nengjun Yi
    Department of Biostatistics, University of Alabama, Birmingham, AL 35294 0022, USA
    Genetics 179:1045-55. 2008
    ..Markov chain Monte Carlo (MCMC) algorithms are developed to simulate the parameters from the posteriors. The methods are illustrated using well-known barley data...
  55. pmc A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
    Guoxing Yang
    Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Mol Vis 17:1070-3. 2011
    ..Congenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family...
  56. ncbi Chromosomes 4q28.3 and 7q31.2 as new susceptibility loci for comitant strabismus
    Sherin Shaaban
    Department of Ophthalmology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama City, Japan
    Invest Ophthalmol Vis Sci 50:654-61. 2009
    ..This study was designed to localize chromosomal susceptibility loci for comitant strabismus among Japanese families by genome-wide linkage analyses...
  57. pmc Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family
    Raidah Al-Baradie
    Department of Neurology, Children s Hospital Boston, Harvard Medical School, MA 02115, USA
    Am J Hum Genet 71:1195-9. 2002
    ..SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development...
  58. ncbi A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes
    Florence Demenais
    EMI 0006, INSERM Universite d Evry, Evry, France
    Hum Mol Genet 12:1865-73. 2003
    ..This meta-analysis has led to identification of a novel region on chromosome 17 linked to type 2 diabetes; this region has not been highlighted in any published scan to date but on the basis of these data justifies further exploration...
  59. ncbi Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2
    Stephen B Harrap
    Department of Physiology, The University of Melbourne, Parkville, Victoria, Australia s harrap physiology unimelb edu au
    Arterioscler Thromb Vasc Biol 22:874-8. 2002
    ..One locus on chromosome 2q36-q37.3 showed linkage with a lod score of 2.63 (P<0.0001)...
  60. pmc Relaxed significance criteria for linkage analysis
    Lin Chen
    Department of Biostatistics, University of Washington, Seattle, Washington 98195, USA
    Genetics 173:2371-81. 2006
    ..A generalized version of the GWER is proposed, called GWERk, that allows one to provide a more liberal balance between true positives and false positives at no additional cost in computation or assumptions...
  61. ncbi Linkage analysis of LDL cholesterol in American Indian populations: the Strong Heart Family Study
    K E North
    Department of Epidemiology, University of North Carolina, Chapel Hill, NC, USA
    J Lipid Res 47:59-66. 2006
    ..Suggestive evidence of linkage to LDL-C was detected on chromosomes 3q, 4q, 7p, 9q, 10p, 14q, and 17q. These linkage signals overlap positive findings for lipid-related traits and harbor plausible candidate genes for LDL-C...
  62. ncbi Multivariate and multilocus variance components method, based on structural relationships to assess quantitative trait linkage via SEGPATH
    M A Province
    Division of Biostatistics, Washington University School of Medicine, Box 8067, 660 S Euclid, St Louis, MO 63110, USA
    Genet Epidemiol 24:128-38. 2003
    ....
  63. pmc A male-specific quantitative trait locus on 1p21 controlling human stature
    S Sammalisto
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    J Med Genet 42:932-9. 2005
    ..Combining data from several genome-wide screens with comparable quantitative phenotype data should improve statistical power for the localisation of genomic regions contributing to these traits...
  64. ncbi A novel obesity locus on chromosome 4q: the Strong Heart Family Study
    Laura Almasy
    Department of Genetics, Southwest Foundation for Biomedical Research, P O Box 760549, San Antonio TX 78245 0549, USA
    Obesity (Silver Spring) 15:1741-8. 2007
    ....
  65. ncbi Eating behavior in the Old Order Amish: heritability analysis and a genome-wide linkage analysis
    Nanette I Steinle
    University of Maryland School of Medicine, Baltimore 21201, USA
    Am J Clin Nutr 75:1098-106. 2002
    ..Eating behavior and thus dietary intake affect the development of obesity-related diseases such as diabetes, hypertension, and hyperlipidemia...
  66. pmc A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts
    Xu Ma
    Graduate School, Peking Union Medical College, Beijing, China
    Mol Vis 14:1906-11. 2008
    ..We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware of a candidate gene in the family...
  67. pmc The EPHA2 gene is associated with cataracts linked to chromosome 1p
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 14:2042-55. 2008
    ....
  68. ncbi Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
    M Al-Maghtheh
    Department of Molecular Genetics, Institute of Ophthalmology, London, UK
    Hum Mol Genet 3:351-4. 1994
    ..A conventional three point analysis between the adRP phenotype and markers D19S180 and D19S214 gave a maximum lod score of 4.87...
  69. pmc Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
    A H Nemeth
    Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, United Kingdom
    Am J Hum Genet 67:1320-6. 2000
    ..9-cM interval on chromosome 9q34. This work will ultimately allow the disease gene to be identified and its relevance to other types of autosomal recessive cerebellar ataxias to be determined...
  70. ncbi Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family
    N Kamatani
    Institute of Rheumatology, Tokyo Women s Medical University, Japan
    Arthritis Rheum 43:925-9. 2000
    ..No loci responsible for this disease or any underexcretion-type hyperuricemia/gout have ever been identified. The aim of the study was to localize a gene responsible for FJHN by linkage analysis...
  71. pmc A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
    G F Leal
    J Med Genet 40:540-2. 2003
  72. ncbi Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
    D H MacLennan
    Banting and Best Department of Medical Research, Charles H Best Institute, University of Toronto, Ontario, Canada
    Nature 343:559-61. 1990
    ..Co-segregation of MH with RYR markers, resulting in a lod score of 4...
  73. ncbi The homeostatic regulation of sleep need is under genetic control
    P Franken
    Biochemistry and Neurophysiology Unit, Department of Psychiatry, University of Geneva, Chene Bourg, Switzerland
    J Neurosci 21:2610-21. 2001
    ..These results demonstrate, for the first time, that the increase of SWS need is under a strong genetic control, and they provide a basis for identifying genes underlying SWS homeostasis...
  74. pmc Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1
    Hanen Belguith
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth, Liban
    Eur J Hum Genet 17:122-4. 2009
    ..A maximum LOD score of 3.99 was obtained with two markers, D10S199 and D10S220. The screening of two candidate genes, CX40...
  75. ncbi Quantification of type I error probabilities for heterogeneity LOD scores
    Paula C Abreu
    Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, USA
    Genet Epidemiol 22:156-69. 2002
    ..e., the LOD score maximized over both recombination fraction theta and admixture parameter alpha and we compared this with the P ..
  76. ncbi A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
    A M Payne
    Institute of Ophthalmology, Department of Molecular Genetics, 11 43 Bath Street, London EC1V 9EL, UK
    Hum Mol Genet 7:273-7. 1998
    ..The resulting effect on cGMP production would predictably modify the number of open cGMP gated cation channels, and could explain the ultimate demise of cone photoreceptor cells...
  77. ncbi Linkage of high-density lipoprotein-cholesterol concentrations to a locus on chromosome 9p in Mexican Americans
    Rector Arya
    Division of Clinical Epidemiology, Department of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA
    Nat Genet 30:102-5. 2002
    ..Using a multipoint variance components linkage approach, we found strong evidence of linkage (lod score=3.4; P=0...
  78. ncbi Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension
    S Rutherford
    Genomics Research Centre, School of Health Sciences, Griffith University Gold Coast, PMB 50, Gold Coast Mail Centre, Bundall, QLD, 9726, Australia
    Hum Genet 109:408-15. 2001
    ..02; ASPEX: P=0.00004) and positive association (P=0.034) of NOS2A to essential hypertension. Hence these results indicate that chromosome 17 and, more specifically, the NOS2A gene may play a role in human essential hypertension...
  79. ncbi Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3
    Bahram Namjou
    Oklahoma Medical Research Foundation, 825 NE 13th Street, Oklahoma City, OK 73104, USA
    Arthritis Rheum 46:2937-45. 2002
    ..If this proved to be true, we would then use the increased genetic homogeneity to more easily reveal genetic linkage...
  80. ncbi The relative efficiency of penetrance estimators for sib pairs
    Michael D Swartz
    Department of Statistics, Rice University, Texas A and M University, College Station, Houston, TX, USA
    Hum Hered 59:61-6. 2005
    ..We then provide plots of the asymptotic relative efficiency, enabling researchers to easily determine regions where the MOD score or segregation alone performs with comparable efficiency relative to joint segregation and linkage...
  81. ncbi Exploration of the disease locus by a careful evaluation of the likelihood polynomial for pedigree data
    Yuki Sugaya
    School of Fundamental Science and Technology, Keio University, Yokohama, Japan
    J Hum Genet 56:383-9. 2011
    ....
  82. pmc Genome-wide scan on plasma triglyceride and high density lipoprotein cholesterol levels, accounting for the effects of correlated quantitative phenotypes
    Jing Ping Lin
    Office of Biostatistics Research, DECA, National Heart, Lung and Blood Institute, National Institutes of Health, 6701 Rockledge Drive, Bethesda, Maryland, USA
    BMC Genet 4:S47. 2003
    ....
  83. pmc A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
    Muhammad Ansar
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    J Hum Genet 56:866-8. 2011
    ..2 was obtained at marker rs8627 (chromosome 1: 8.34 Mb) at θ=0 and a significant maximum multipoint LOD score of 3.8 was achieved at 15 contiguous markers from rs630075 (9.3 Mb) to rs10927583 (15.13 Mb)...
  84. ncbi Combined linkage and association analysis in pedigrees
    K D Siegmund
    Department of Preventive Medicine, University of Southern California, Los Angeles, California, USA
    Genet Epidemiol 21:S358-63. 2001
    ..are significantly associated with a trait (high chi 2 value) and showing no residual evidence of linkage (low lod score)...
  85. ncbi A new betaA1-crystallin splice junction mutation in autosomal dominant cataract
    J B Bateman
    Departments of Ophthalmology, The Children s Hospital, The University of Colorado School of Medicine, Denver, Colorado 80264, USA
    Invest Ophthalmol Vis Sci 41:3278-85. 2000
    ....
  86. ncbi Evidence for a locus on chromosome 1 that influences vulnerability to alcoholism and affective disorder
    J I Nurnberger
    Department of Psychiatry, Indiana University School of Medicine, Indianapolis 46202 4887, USA
    Am J Psychiatry 158:718-24. 2001
    ..Data from the collaborative study were used to test three phenotypes (comorbid alcoholism and depression, alcoholism or depression, and depression) for genetic linkage...
  87. pmc Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
    Zhikuan Yang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, P R China
    Mol Vis 15:312-8. 2009
    ..Data from a consanguineous Chinese family with arHM were collected to map the genetic locus associated with this condition...
  88. pmc Multilocus half-tetrad analysis and centromere mapping in citrus: evidence of SDR mechanism for 2n megagametophyte production and partial chiasma interference in mandarin cv 'Fortune'
    J Cuenca
    Instituto Valenciano de Investigaciones Agrarias, Centro de Proteccion Vegetal y Biotecnologia, Ctra, Moncada, Valencia, Spain
    Heredity (Edinb) 107:462-70. 2011
    ..The implications of such a restitution mechanism for citrus breeding are discussed...
  89. pmc Heritability and genetic linkage of left ventricular mass, systolic and diastolic function in hypertensive African Americans (From the GENOA Study)
    Ervin R Fox
    Department of Medicine, University of Mississippi School of Medicine, Jackson, USA
    Am J Hypertens 23:870-5. 2010
    ..We used pedigree information from 454 tandem markers across the genome to estimate the heritability and linkage of various echocardiographic measures of LV structure and function in a cohort of African-American hypertensive siblings...
  90. pmc Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Mol Vis 17:971-6. 2011
    ..To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus...
  91. pmc Investigation of parent-of-origin effect in comitant strabismus using MOD score analysis
    Sherin Shaaban
    Department of Ophthalmology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama City, Japan
    Mol Vis 15:1351-8. 2009
    ..The aim of the current study is to investigate the phenomenon of a parent-of-origin effect, genomic imprinting, as a possible mode of inheritance in comitant strabismus...
  92. ncbi How to model a complex trait. 2. Analysis with two disease loci
    Konstantin Strauch
    Institute for Medical Biometry, Informatics, and Epidemiology, University of Bonn, Sigmund Freud Strasse 25, DE 53105 Bonn, Germany
    Hum Hered 56:200-11. 2003
    ..This procedure will maximize the power to detect linkage for traits which are governed by two or more loci, and lead to more accurate estimates of the disease-locus positions...
  93. pmc Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays
    Seyedmehdi Shojaee
    Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran
    Am J Hum Genet 82:1375-84. 2008
    ..Our results suggest that linkage in our pedigree may have been missed had we used chips containing less than 100,000 SNPs across the genome...
  94. ncbi Confirmation of linkage to chromosome 1q for spine bone mineral density in southern Chinese
    Ching Lung Cheung
    Department of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China
    Hum Genet 120:354-9. 2006
    ..Four markers (D1S2878, D1S196, D1S452, and D1S218) achieved a LOD score greater than 1.0 with spine BMD, with the maximum multipoint LOD score of 2.36 at the marker D1S196...
  95. pmc Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis
    Deborah W Neklason
    Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah 84112 5550, USA
    Cancer Res 68:8993-7. 2008
    ..9; P = 0.02). No known familial cancer genes reside in the 7q31 locus, and thus the identified region may contain a novel susceptibility gene responsible for common familial colorectal cancer...
  96. ncbi Deciphering the genetics of hereditary non-syndromic colorectal cancer
    Eli Papaemmanuil
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Eur J Hum Genet 16:1477-86. 2008
    ..95, P=0.23; HLOD(dominant)=0.40, HLOD(recessive)=0.20). Our findings are consistent with the hypothesis that variation at 3q22 contributes to the risk of CRC, but this is unlikely to be mediated through a restricted set of alleles...
  97. ncbi Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness
    Paul Van Eerdewegh
    Genome Therapeutics Corporation, 100 Beaver St, Waltham, Massachusetts 02453, USA
    Nature 418:426-30. 2002
    ..The identification and characterization of ADAM33, a putative asthma susceptibility gene identified by positional cloning in an outbred population, should provide insights into the pathogenesis and natural history of this common disease...
  98. pmc Large upward bias in estimation of locus-specific effects from genomewide scans
    H H Göring
    Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX 78245 0549, USA
    Am J Hum Genet 69:1357-69. 2001
    ..linkage analysis as an example, demonstrate that estimates of locus-specific effect size at genomewide LOD score peaks tend to be grossly inflated and can even be virtually independent of the true effect size, even for ..
  99. pmc Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
    Lisa J Strug
    Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
    Eur J Hum Genet 17:1171-81. 2009
    ..We hypothesize that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders...
  100. ncbi Suggestive linkage on chromosome 1 for a quantitative alcohol-related phenotype
    Danielle M Dick
    Indiana University School of Medicine, Indianapolis, Indiana 46202 525, USA
    Alcohol Clin Exp Res 26:1453-60. 2002
    ..Here, we develop quantitative phenotypes that characterize drinking patterns among both alcoholic and nonalcoholic subjects, and use these phenotypes in subsequent linkage analyses...
  101. pmc Evidence for sex-specific risk alleles in autism spectrum disorder
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Am J Hum Genet 75:1117-23. 2004
    ..01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases...

Research Grants65

  1. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    Antonio V Delgado-Escueta; Fiscal Year: 2013
    ..Families (0J1, 106 and 016) which reached LOD score of 3...
  2. Genetic controls of mineral consumption
    Michael G Tordoff; Fiscal Year: 2013
    ..example of the consomic-origin approach, we propose to produce congenic lines to isolate a QTL on Chr 5, with a LOD score for NaCl preference of 8.5...
  3. GWAS in Fibrosing Interstitial Lung Disease
    DAVID ALBERT SCHWARTZ; Fiscal Year: 2013
    ..We have found that among patients with FIP, the chr11 LOD score is strongly influenced by cigarette smoking...
  4. IDENTIFICATION OF VUR GENES BY COMBINED LINKAGE ANALYSIS AND EXOME SEQUENCING
    RASHEED ADEBAYO GBADEGESIN; Fiscal Year: 2013
    ..We performed a genome-wide linkage study (GWLS) on this family and obtained a significant genome-wide LOD score of 3.3 on chromosome 6p...
  5. Predictors of Coronary Artery Calcification in an African-American Cohort
    PATRICIA PEYSER; Fiscal Year: 2010
    ..genome-wide linkage analysis for CAC quantity by localizing positional candidate genes under the most compelling LOD score peaks (from Aims 1 and 2) and evaluate the relationship of nucleotide variation in the identified candidate ..
  6. GENETIC EPIDEMIOLOGY OF LUNG CANCER
    Marshall Anderson; Fiscal Year: 2009
    ..In 38 families having 4 or more first-degree relatives with lung cancer, we found a LOD score of 3.6 on chromosome 6q...
  7. Identification of Autosomal Recessive Nonsyndromic Hearing Impairment Genes
    SUZANNE MARGARET LEAL; Fiscal Year: 2013
    ..not been identified and there is no known gene within the linkage region, 22 families have established linkage (LOD score >3.3) to 19 unique genomic regions, 53 families display strongly suggestive linkage (2.0<LOD score<3...
  8. Cloning/Gene/Posterior Polymorphous corneal dystrophy
    ANTHONY ALDAVE; Fiscal Year: 2009
    ..PPCD has been mapped to chromosome 20p11-q11 with a maximum observed LOD score of 5.54 at theta = 0.0 with marker D20S45...
  9. Exome Sequencing to Identify CVD Risk Variants in Hispanics &African Americans
    Carl D Langefeld; Fiscal Year: 2013
    ..mutations accounts for 17% of the variance in plasma adiponectin in the entire population and accounts for the LOD score of 8.2 in linkage analysis...
  10. Genetics and Genomics of Fuchs Endothelial Corneal Dystrophy
    VENKATESWARA VINOD MOOTHA; Fiscal Year: 2013
    ..Linkage analysis revealed promising intervals on chr 15q (LOD score of 3.93) and chr 1p (LOD score of 2.29)...
  11. Genetic Epidemiology of Glioma International Consortium
    Melissa L Bondy; Fiscal Year: 2010
    ..All regions with a lod score of 1.05 will be taken forward for further analysis...
  12. Family Study of Carotid Atherosclerosis and Stroke Risk
    Ralph L Sacco; Fiscal Year: 2013
    ..We have prioritized 20 informative families with any trait-specific peak LOD score >0.4...
  13. GENETICS OF BLOOD PRESSURE CONTROL IN MEXICAN AMERICANS
    Larry Atwood; Fiscal Year: 2000
    ..Finally, all loci that have detectable effects on the intermediate phenotypes will be tested for their effects on blood pressure. ..
  14. Genetics of Renal Hypodyslasia
    Ali G Gharavi; Fiscal Year: 2012
    ..to chromosome 1p32-33 and another locus under a model of dominant inheritance with locus heterogeneity (peak lod score 3.9 with 45% of families linked)...
  15. Identifying Genes for Mammographic Breast Density
    Celine M Vachon; Fiscal Year: 2012
    ..9 cM) surrounding the maximum LOD score from the fine-mapping linkage scan) to identify genes for breast density...
  16. MAPPING GENES LINKED TO AUTOIMMUNE THYROID DISEASES
    Yaron Tomer; Fiscal Year: 2001
    ..results showed negative LOD scores for the Tg, IgH, IDDM-4 and -5 markers and low positive LOD scores for TPO (LOD score=0.42, theta=0.1), and for TNFa (LOD score=0.33, theta=0.1)...
  17. The molecular basis for an animal model of inherited hyperuricosuria
    Danika Bannasch; Fiscal Year: 2007
    ..A genome scan has been performed which demonstrated linkage of huu to CFA 3 with a LOD score of 6.5...
  18. GENETIC HETEROGENEITY IN HUMAN DISEASE
    Aravinda Chakravarti; Fiscal Year: 1992
    ..For mapping each of the trait loci, lod score and identity by descent score methods are proposed and will be evaluated...
  19. GENETIC EPIDEMIOLOGY OF ELEVATED APOB LEVEL
    GAIL JARVIK; Fiscal Year: 1999
    ..Adjustment of apoB levels for these factors will also increase the power to map the BEL locus. Standard lod score and newer Monte Carlo Markov Chain methods of linkage analysis will be used...
  20. GENE DISCOVERY FOR THE KENNY CAFFEY SYNDROME
    Bruce Gelb; Fiscal Year: 2000
    ..Significant linkage was obtained with a maximal two-point LOD score of 13.30, and haplotype analysis identified recombination events defining the KCS locus to a 4-cM interval...
  21. ANALYSIS OF GENETIC LINKAGE IN TUBEROUS SCLEROSIS
    Moyra Smith; Fiscal Year: 1990
    ..This evidence is a lod score of over 4 for the TS gene and a marker on human chromosome 9...
  22. MOLECULAR GENETICS OF MYOPIA
    Terri Young; Fiscal Year: 2002
    ..Significant linkage (Lod score= 6.24) has been identified at a locus on chromosome 18 in 8 families...
  23. Type 2 Diabetes Gene Discovery Linked to 3p in Hispanics
    Donna Lehman; Fiscal Year: 2009
    ..of the traits diabetes and diabetes age-of-onset to a genetic region on chromosome 3p (empirical multipoint LOD score of 3.76, p=0.000016)...
  24. LOCALIZATION OF A GENE UNDERLYING CEREBRAL LATERALITY
    Daniel Geschwind; Fiscal Year: 1999
    ..Two- point linkage analysis will be conducted using the LINKAGE program. If any region attains a lod score >+2, finer flanking markers will be scored and multipoint linkage analysis will be conducted...
  25. HOMOZYGOSITY MAPPING OF ORAL-FACIAL CLEFTS IN TURKEY
    Mary Marazita; Fiscal Year: 2000
    ..genetic markers (approximately 10cM apart), only 3-10 inbred affected individuals are necessary to achieve a LOD score greater than 3, depending on the degree of consanguinity and the informativeness of the markers...
  26. GENETICS OF ALZHEIMER'S DISEASE IN ISRAELI ARABS
    ROBERT FRIEDLAND; Fiscal Year: 2004
    ..A variety of analytical techniques including both parametric (lod score) and non-parametric (affected relative, sib-transmission-disequilibrium and allele-frequency-dependent ..
  27. MULTIPLE SEVERE OBESITY RISK GENES IN UTAH PEDIGREES
    Steven Hunt; Fiscal Year: 2009
    ..TBC1D1, that clearly segregates in female family members with severe obesity and explains most of the >9 LOD score. The unique set of large Utah pedigrees with many very severely obese subjects led to such dramatic linkage ..
  28. MUTATIONS CAUSING DISC DISEASE AND SCIATICA
    Leena Ala Kokko; Fiscal Year: 2003
    ..alpha2 chain of collagen IX co- segregated with sciatica and intervertebral disc disease in four families with a LOD score of 4.5. Subsequent linkage disequilibrium analysis conditional on linkage gave an additional LOD score of 7.1...
  29. POSITIONAL CLONING STUDIES OF NARCOLEPSY GENES
    Emmanuel Mignot; Fiscal Year: 2000
    ..A solid linkage marker for canarc-1 has been identified (current LOD score=15.3 at 0% recombination)...
  30. GENETIC AND MOLECULAR BASIS OF FAMILIAL COLD URTICARIA
    Harold Hoffman; Fiscal Year: 2002
    ..if necessary; (2) to perform multi-point linkage analysis using the LINKAGE program to identify regions with a lod score greater than plus 2 and after finer mapping of these regions to identify regions with a lod score greater than ..
  31. LINKAGE STUDY OF PANIC DISORDER
    Raymond Crowe; Fiscal Year: 1999
    ..This work has identified a region on chromosome 7p12 where the maximum lod score reaches 2.76...
  32. Characterization-Novel Subtypes-Inherited Neuropathies
    Victoria Lawson; Fiscal Year: 2006
    ..markers across the genome have been genotyped, and of these, 1 candidate locus has been identified with a LOD score of nearly 2...
  33. GENETIC EPIDEMIOLOGY OF NIDDM IN MEXICAN AMERICANS
    Michael Stern; Fiscal Year: 2000
    ..For markers giving a lod score >=0.834 (equal to a nominal p-value of 0...
  34. MAXIMUM LIKELIHOOD MAPPING OF THE HUMAN CHROMOSOMES
    Bronya Keats; Fiscal Year: 1992
    ..The linkage maps constructed will be compared with those estimated by maximum likelihood methods from pairwise lod score data, and information from confirmed physical orders of loci will be included in the analyses...
  35. PATHOBIOLOGY OF CEREBRAL CAVERNOUS MALFORMATION
    Richard Lifton; Fiscal Year: 2002
    ..They have located CCM1 on chromosome 7q with a lod score of 10.6 at zero recombination for D7S657...
  36. COLLABORATIVE LINKAGE STUDY OF AUTISM
    Joseph Piven; Fiscal Year: 2002
    ..have strong evidence of linkage to a locus on chromosome 13 (D13S800) with a maximum multi-point heterogeneity lod score of 3.7. 35-40% of our families appears to be linked to this locus. We have found maximum lod scores > 2...
  37. The Genetic Etiology of Patent Ductus Arteriosus
    Arya Mani; Fiscal Year: 2006
    ..32 and 5.4 respectively, and one gene for dominant PDA on chromosome 5q23-24 with maximum LOD Score of 3.5. We envision identifying these genes by positional cloning...
  38. COLLABORATIVE LINKAGE STUDY OF AUTISM
    Susan Folstein; Fiscal Year: 2002
    ..we have strong evidence of linkage to a locus on chromosome 13 (D13S800) with a maximum multipoint heterogeneity lod score of 3.7. 35-40 percent of our families appear to be linked to this locus...
  39. Genetic Determinants of Vesicoureteral Reflux
    Ali Gharavi; Fiscal Year: 2007
    ..Power analysis demonstrates that these nine kindreds can detect linkage with a maximal expected lod score of 21...
  40. Identification of the Early Onset SLE Gene on 17p13
    Andrea Sestak; Fiscal Year: 2005
    ..patient with age of onset less than 16 has revealed a putative susceptibility gene for early onset lupus with a lod score of 3.0 at 17p13...
  41. A Scoring Method for MCMC Linkage Analysis
    EDWARD DAW; Fiscal Year: 2004
    ..LOP contrasts with a lod score in that while a lod score is calculated under a single linkage model, LOP is calculated with Monte Carlo ..
  42. QUANTITATIVE GENETICS OF CLINICAL PSYCHOPATHOLOGY
    John Rice; Fiscal Year: 2000
    ..for diagnostic evaluations at multiple points in time; (4) investigate the utility of the MOD score (maximized lod score) in linkage analyses of complex traits...
  43. GENOMIC SCREEN TO IDENTIFY ALZHEIMERS DISEASE GENES
    Jeffery Vance; Fiscal Year: 2007
    ..of these regions identified a single peak on chromosome 10q between D10S 1239 and D10S 1237, with a maximum LOD score of 2.62...
  44. Genetic Test for Schizophrenia Susceptibility: A Targeted Approach
    Mark Brennan; Fiscal Year: 2007
    ..two novel genetic tests, one based on the SULT4A1 gene on chromosome 22q (which is supported by a multipoint LOD score of 4...
  45. IDENTIFICATION OF TUMOR PROMOTION SUSCEPTIBILITY GENES
    John DiGiovanni; Fiscal Year: 2001
    ..markers, that sugggest a strong association of TPA promotion susceptibility with a region on chromosome 9 (LOD score of 3.8)...
  46. ROBUST LINKAGE METHODS FOR HUMAN PEDIGREE DATA
    Katrina Goddard; Fiscal Year: 2004
    DESCRIPTION (Applicant's Abstract): Model-free lod score methods are used extensively to map genes underlying complex disorders using samples of affected sib pairs...
  47. GENETIC STUDY OF HODGKIN'S DISEASE
    YIN YAO; Fiscal Year: 2001
    ..and 2) to test the hypothesis of linkage and quantify the proportion of HLA linked or non- linked families using lod score approach and non-parametric linkage analysis and 3) to estimate relative risk in sibs based on HLA haplotype ..
  48. MOLECULAR GENETIC STUDIES OF AFFECTIVE DISORDERS
    James Lee; Fiscal Year: 1993
    ..and will utilize restriction fragment length polymorphisms (RFLPs) in sib-pair and maximum likelihood (LOD score) genetic linkage analyses of the affective disorder families...
  49. THE GENE FOR SCHNYDER'S CRYSTALLINE CORNEAL DYSTROPHY
    JAYNE WEISS; Fiscal Year: 2002
    ..SCCD has been mapped to the chromosome 1p36.2-p36.3 with a maximum multipoint lod score of 8...
  50. Identification of a Gene Causing Aortic Stenosis
    Peter Bowers; Fiscal Year: 2005
    ..using in a 10cM genome wide scan has identified a single 1Mb AS locus that achieves the predicted maximum LOD score of 3.0...
  51. GENETIC FACTORS IN ABDOMINAL AORTIC ANEURYSMS
    S KUIVANIEMI; Fiscal Year: 2006
    ..markers from the region on chromosome 19 and also used DNA from 121 additional ASPs and obtained a lod score of 3.07 (a pointwise p-value of 0.002) in the same model...
  52. Defining an Obesity QTL on Chromosome 3q
    Xiaofeng Zhu; Fiscal Year: 2007
    ..African American family set we have obtained strong linkage evidence for obesity on chromosome 3q (combined LOD score = 3.7). A prime candidate (adiponectin) lies near this peak...
  53. Molecular Determinants of Coronary Artery Disease
    Edward Plow; Fiscal Year: 2009
    ..dominantly inherited CAD, and the identification of a locus on chromosome 1 that is linked to premature MI (LOD score >11), from a genome-wide scan of 428 multiplex families with premature CAD...
  54. MOLECULAR GENETICS OF HOLT-ORAM SYNDROME
    Craig Basson; Fiscal Year: 2000
    ..Syndrome has previously mapped the disease gene locus (HOS) to human chromosome 12q with a combined multipoint LOD score of 25. This research program will be conducted under the sponsorship of Dr. Christine E...
  55. GENETICS OF COCAINE DEPENDENCE
    Joel Gelernter; Fiscal Year: 2010
    ..The project will also contribute to a substantial increase in our understanding of the mechanisms of CD, and may lead to new approaches to the prevention and treatment of this pervasive societal problem. ..
  56. Alcohol Dependence Genetics in a Large Chinese Pedigree
    Joel Gelernter; Fiscal Year: 2008
    ..This study will improve understanding of the genes that influence risk for alcohol dependence, in Chinese populations, and in comparison with European-American populations. [unreadable] [unreadable] [unreadable]..
  57. GENETICS OF COCAINE INDUCED PSYCHOSIS
    Joel Gelernter; Fiscal Year: 2003
    ..This program of research will improve our understanding of the genetics underlying human brain responses to chronic cocaine exposure, thus leading to better diagnosis and treatments for cocaine dependence and other addictive disorders. ..
  58. Approaches to the Genetics of Substance Dependence
    Joel Gelernter; Fiscal Year: 2007
    ..This proposal would permit the PI to make a major investment in mentorship, and allow a broadening of his research program in substance dependence. [unreadable] [unreadable] [unreadable] [unreadable]..
  59. Alcoholism risk and protective factors in Trinidad
    Cindy Ehlers; Fiscal Year: 2006
    ..Study findings can be compared to similar studies being conducted in the US. We believe these studies will allow for the identification of risk and protective factors for alcoholism in these islands. [unreadable] [unreadable]..
  60. RISK FACTORS FOR ALCOHOLISM IN NATIVE AMERICANS
    Cindy Ehlers; Fiscal Year: 2006
    ..The identification of such variables may potentially be useful in the development of specific prevention and treatment programs for this population as well as other Native American tribes. ..
  61. ADOLESCENT MARIJUANA USE IN NATIVE AMERICANS
    Cindy Ehlers; Fiscal Year: 2008
    ..abstract_text> ..
  62. Neurobehavioral Consequences of Adolescent Alcohol
    Cindy Ehlers; Fiscal Year: 2008
    ..AIM 3: To investigate the neurochemical substrates underlying the lasting neurobehavioral consequences of adolescent ethanol exposure, with a focus on NMDA systems ..
  63. Identification of Novel Biomarkers in HD
    Tatiana Foroud; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  64. A Cross-Cultural Longitudinal Assessment of FASD (U24)
    Tatiana Foroud; Fiscal Year: 2005
    ..abstract_text> ..
  65. PARKINSON DISEASE COLLABORATIVE STUDY OF GENETIC LINKAGE
    Tatiana M Foroud; Fiscal Year: 2010
    ..2. Study the role of parkin mutations in Parkinson's disease. 3. Perform molecular studies to identify PD susceptibility genes. 4. Evaluate putative PD susceptibility genes in a case-control sample. ..