Robert C Elston

Summary

Affiliation: Case Western Reserve University
Country: USA

Publications

  1. pmc Mathematical assumptions versus biological reality: myths in affected sib pair linkage analysis
    Robert C Elston
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland, OH 44106 7281, USA
    Am J Hum Genet 76:152-6. 2005
  2. ncbi request reprint Advances in statistical human genetics over the last 25 years
    Robert C Elston
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    Stat Med 25:3049-80. 2006
  3. ncbi request reprint Multistage sampling for genetic studies
    Robert C Elston
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Annu Rev Genomics Hum Genet 8:327-42. 2007
  4. ncbi request reprint Association of CYP3A5 genotypes with blood pressure and renal function in African families
    Murielle Bochud
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    J Hypertens 24:923-9. 2006
  5. pmc Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study
    Sudha K Iyengar
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA
    Proc Natl Acad Sci U S A 101:14485-90. 2004
  6. ncbi request reprint Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
    Cheryl L Thompson
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Mol Genet 16:2135-48. 2007
  7. pmc Examination of association with candidate genes for diabetic nephropathy in a Mexican American population
    Sulgi Kim
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Clin J Am Soc Nephrol 5:1072-8. 2010
  8. ncbi request reprint Genome-wide analyses demonstrate novel loci that predispose to drusen formation
    Gyungah Jun
    Departments of Epidemiology and Biostatistics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 7281, USA
    Invest Ophthalmol Vis Sci 46:3081-8. 2005
  9. ncbi request reprint Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building Room 1303, 2103 Cornell Rd, Cleveland, OH 44106, USA
    Hum Genet 121:663-73. 2007
  10. doi request reprint The power of independent types of genetic information to detect association in a case-control study design
    Sungho Won
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
    Genet Epidemiol 32:731-56. 2008

Collaborators

Detail Information

Publications114 found, 100 shown here

  1. pmc Mathematical assumptions versus biological reality: myths in affected sib pair linkage analysis
    Robert C Elston
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland, OH 44106 7281, USA
    Am J Hum Genet 76:152-6. 2005
    ..These are considered as examples of mathematical assumptions that may not always reflect biological reality. More-robust sib-pair designs and appropriate methods for their analysis have long been available...
  2. ncbi request reprint Advances in statistical human genetics over the last 25 years
    Robert C Elston
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    Stat Med 25:3049-80. 2006
    ..Perhaps the greatest current challenge concerns how best to gather and synthesize the many lines of evidence possible in order to discover the genetic determinants underlying complex diseases...
  3. ncbi request reprint Multistage sampling for genetic studies
    Robert C Elston
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Annu Rev Genomics Hum Genet 8:327-42. 2007
    ..Finally, we note that the sampling of family data for linkage analysis is not a practice that should be automatically discontinued...
  4. ncbi request reprint Association of CYP3A5 genotypes with blood pressure and renal function in African families
    Murielle Bochud
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    J Hypertens 24:923-9. 2006
    ..We determined whether CYP3A5 polymorphisms are associated with ambulatory blood pressure (ABP) and with glomerular filtration rate (GFR) in African families...
  5. pmc Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study
    Sudha K Iyengar
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA
    Proc Natl Acad Sci U S A 101:14485-90. 2004
    ..00005). The current genome scan for age-related cortical cataracts may lead to identification of novel genes, because few regions identified in the current scan have previously been implicated in congenital or age-related cataracts...
  6. ncbi request reprint Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes
    Cheryl L Thompson
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Mol Genet 16:2135-48. 2007
    ..Both genes appear to play a role in both AMD and renal pathophysiology. These findings support evidence for common pathways influencing ocular and renal function and suggest that further work is required on their common determinants...
  7. pmc Examination of association with candidate genes for diabetic nephropathy in a Mexican American population
    Sulgi Kim
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Clin J Am Soc Nephrol 5:1072-8. 2010
    ..CNDP1 and ELMO1 were examined along with eight other genes that are less well characterized for DN in a new study of Mexican-Americans...
  8. ncbi request reprint Genome-wide analyses demonstrate novel loci that predispose to drusen formation
    Gyungah Jun
    Departments of Epidemiology and Biostatistics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 7281, USA
    Invest Ophthalmol Vis Sci 46:3081-8. 2005
    ..To test whether genes for drusen formation are independent of age-related macular degeneration (AMD) pathogenesis...
  9. ncbi request reprint Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building Room 1303, 2103 Cornell Rd, Cleveland, OH 44106, USA
    Hum Genet 121:663-73. 2007
    ..This study further illustrates the utility of such a model for disentangling complex traits...
  10. doi request reprint The power of independent types of genetic information to detect association in a case-control study design
    Sungho Won
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
    Genet Epidemiol 32:731-56. 2008
    ..As a result we can have improved flexible strategies to increase the power of genome-wide association studies without requiring the collection of a new, independent sample...
  11. pmc Heritability of the severity of diabetic retinopathy: the FIND-Eye study
    Nedal H Arar
    Family Investigation of Nephropathy and Diabetes FIND Genetic Analysis and Data Coordinating Center, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Invest Ophthalmol Vis Sci 49:3839-45. 2008
    ....
  12. pmc Bayesian intervals for linkage locations
    Ritwik Sinha
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
    Genet Epidemiol 33:604-16. 2009
    ..Correct coverage levels are maintained by our method. Both simulation studies and an application to a rheumatoid arthritis dataset demonstrate the improved efficiency of the Bayesian intervals compared with existing methods...
  13. pmc Genome scan of M. tuberculosis infection and disease in Ugandans
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    PLoS ONE 3:e4094. 2008
    ..Many of the genetic factors for each of these stages are part of the innate immune system...
  14. pmc Identification of susceptibility genes for cancer in a genome-wide scan: results from the colon neoplasia sibling study
    Denise Daley
    Department of Epidemiology and Biostatistics, University Hospitals of Cleveland Case Western Reserve University, Cleveland, OH 44106, USA
    Am J Hum Genet 82:723-36. 2008
    ..3 at marker D17S1308 in the breast/colon subgroup identified HIC1 as a candidate gene. We demonstrated that using clinical information, unaffected siblings, and family history can increase the analytical power of a linkage study...
  15. pmc Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration
    Sudha K Iyengar
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44109 1998, USA
    Am J Hum Genet 74:20-39. 2004
    ..In summary, we have evidence for a major ARMD locus on 15q21, which, coupled with numerous other loci segregating in these families, suggests complex oligogenic patterns of inheritance for ARMD...
  16. pmc Reduction of sample heterogeneity through use of population substructure: an example from a population of African American families with sarcoidosis
    Cheryl L Thompson
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106 7281, USA
    Am J Hum Genet 79:606-13. 2006
    ..Our findings support the presence of sarcoidosis-susceptibility genes in regions identified elsewhere but indicate that these genes are likely to be ancestry specific...
  17. ncbi request reprint Genome-wide scan for estimated glomerular filtration rate in multi-ethnic diabetic populations: the Family Investigation of Nephropathy and Diabetes (FIND)
    Jeffrey R Schelling
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, Rm 1300, 10900 Euclid Ave, Cleveland, OH 44106 7281, USA
    Diabetes 57:235-43. 2008
    ..Glomerular filtration rate (GFR), which characterizes diabetic nephropathy, was employed as a quantitative trait in a preliminary whole-genome scan...
  18. pmc A quantitative linkage score for an association study following a linkage analysis
    Tao Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, USA
    BMC Genet 7:5. 2006
    ..this sequential procedure: (1) how should we design an efficient association study given the information provided by the previous linkage study? and (2) can an association in a linkage region explain, in part, the detected linkage signal?..
  19. pmc Haplotype-based quantitative trait mapping using a clustering algorithm
    Jing Li
    Electrical Engineering and Computer Science Department, Case Western Reserve University, Cleveland, OH 44106, USA
    BMC Bioinformatics 7:258. 2006
    ..However the development of association mapping methods using unrelated individuals for quantitative traits has received relatively less attention...
  20. pmc Structural equation model-based genome scan for the metabolic syndrome
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University 2500 MetroHealth Dr, R258 Rammelkamp Building, Cleveland, Ohio, USA
    BMC Genet 4:S99. 2003
    ..Because these traits cluster, there are likely common genetic factors involved...
  21. ncbi request reprint Plasma aldosterone is independently associated with the metabolic syndrome
    Murielle Bochud
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Hypertension 48:239-45. 2006
    ....
  22. pmc Single-marker and two-marker association tests for unphased case-control genotype data, with a power comparison
    Sulgi Kim
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106 7281, USA
    Genet Epidemiol 34:67-77. 2010
    ..Therefore, our result supports incorporating an interaction term as well as linear terms in multi-marker tests...
  23. pmc Detecting rare variants for complex traits using family and unrelated data
    Xiaofeng Zhu
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Genet Epidemiol 34:171-87. 2010
    ..These results suggest that searching for rare genetic variants is feasible and can be fruitful in current GWAS, candidate gene studies or resequencing studies...
  24. pmc Genomewide linkage scan for diabetic renal failure and albuminuria: the FIND study
    Robert P Igo
    Genetic Analysis and Data Coordinating Center, Cleveland, Ohio, USA
    Am J Nephrol 33:381-9. 2011
    ..g. the urine albumin:creatinine ratio (ACR). Herein, the results of whole-genome linkage analysis and a sparse association scan for ACR and a dichotomous DN phenotype are reported in diabetic individuals...
  25. pmc Two-marker association tests yield new disease associations for coronary artery disease and hypertension
    Thomas P Slavin
    Department of Genetics, Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University, 10524 Euclid Avenue, Cleveland, OH, USA
    Hum Genet 130:725-33. 2011
    ..We have shown that novel, multiple-marker, statistical methods can be of use in finding variants in GWAS. We describe many new, associated variants for both CAD and HTN and describe their known genetic mechanisms...
  26. pmc Linkage analysis of alcohol dependence using both affected and discordant sib pairs
    Pei Ying Shih
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Wolstein Research Building, Cleveland, OH 44106, USA
    BMC Genet 6:S36. 2005
    ..Further, it works better than the conventional LOD score ASP linkage method in these data in the sense of avoiding false-positive linkage evidence...
  27. pmc Improving power in contrasting linkage-disequilibrium patterns between cases and controls
    Tao Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Am J Hum Genet 80:911-20. 2007
    ..Finally, we illustrate our new method by applying it to real data from the International Collaborative Study on Hypertension in Blacks...
  28. pmc A unified association analysis approach for family and unrelated samples correcting for stratification
    Xiaofeng Zhu
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Am J Hum Genet 82:352-65. 2008
    ..This property is demonstrated in both a variety of simulation models and empirical data. The proposed approach can be equally applied to the analysis of both qualitative and quantitative traits...
  29. pmc Power of single- vs. multi-marker tests of association
    Xuefeng Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
    Genet Epidemiol 36:480-7. 2012
    ..These findings can be useful to guide analyses of future studies...
  30. pmc Comparison of microsatellites, single-nucleotide polymorphisms (SNPs) and composite markers derived from SNPs in linkage analysis
    Chao Xing
    Department of Epidemiology and Biostatistics, Wolstein Research Building, Case Western Reserve University, Cleveland, OH 44106, USA
    BMC Genet 6:S29. 2005
    ..Considering all factors, such as information content, flexibility of analysis method, map errors, and genotyping errors, a map of clustered SNPs can be an efficient design for a genome-wide linkage scan...
  31. ncbi request reprint High heritability of ambulatory blood pressure in families of East African descent
    Murielle Bochud
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Hypertension 45:445-50. 2005
    ..They also demonstrate that antihypertensive treatment and the number of BP measurements have a major influence on the heritability estimates...
  32. ncbi request reprint Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND)
    Sudha K Iyengar
    FIND Genetic Analysis and Data Coordinating Center, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 7281, USA
    Diabetes 56:1577-85. 2007
    ..Large family collections consisting of multiple members with diabetes and advanced nephropathy are likely to accelerate the identification of genes causing diabetic nephropathy, a life-threatening complication of diabetes...
  33. pmc EPHA2 is associated with age-related cortical cataract in mice and humans
    Gyungah Jun
    Department of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America
    PLoS Genet 5:e1000584. 2009
    ..Thus, converging evidence from humans and mice suggests that EPHA2 is important in maintaining lens clarity with age...
  34. pmc Heritability estimation for speech-sound traits with developmental trajectories
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Behav Genet 41:184-91. 2011
    ..We conclude that differences in measurement scales across the age span can be reconciled through non-linear modeling of the developmental process...
  35. pmc Gene, pathway and network frameworks to identify epistatic interactions of single nucleotide polymorphisms derived from GWAS data
    Yu Liu
    Center for Proteomics and Bioinformatics, Case Western Reserve University, Cleveland, OH, USA
    BMC Syst Biol 6:S15. 2012
    ....
  36. ncbi request reprint Evidence for a major gene influence on tumor necrosis factor-alpha expression in tuberculosis: path and segregation analysis
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA
    Hum Hered 60:109-18. 2005
    ..Furthermore, these studies have not accounted for the influence of shared environment within households on TB risk, which may spuriously inflate estimates of heritability...
  37. pmc Optimizing the evidence for linkage by permuting marker order
    Gyungah Jun
    Department of Epidemiology and Biostatistics, Wolstein Research Building R1300, Case Western Reserve University, 2103 Cornell Road, Cleveland, OH 44106, USA
    BMC Genet 6:S61. 2005
    ..0039) on chromosome 1 between marker D1S1592 and D1S1598. Our results suggest that reordering fine-mapping markers in candidate regions when the genetic map is uncertain can be a critical step when considering a dense map...
  38. ncbi request reprint Prediction of empirical p values from asymptotic p values for conditional logistic affected relative pair linkage analysis
    Moumita Sinha
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Hum Hered 61:45-54. 2006
    ..As an alternative, we have developed regression prediction models that provide more accurate p values...
  39. pmc The affected-/discordant-sib-pair design can guarantee validity of multipoint model-free linkage analysis of incomplete pedigrees when there is marker-marker disequilibrium
    Chao Xing
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland, OH 44106, USA
    Am J Hum Genet 79:396-401. 2006
    ..We advocate the ASP/DSP design with appropriate sib-pair statistics that test the difference in allele sharing between ASPs and DSPs...
  40. pmc A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis
    Sanford D Markowitz
    Department of Medicine, Case Western Reserve University, Cleveland, Ohio, United States of America
    PLoS ONE 11:e0146435. 2016
    ..rs60745952, located in an intergenic region on chromosome 4q31.1, and not previously associated with cancer, is, thus, a germline genetic marker for susceptibility to developing colon cancer metastases among Ashkenazi Jews. ..
  41. pmc Genetic variation in 15-hydroxyprostaglandin dehydrogenase and colon cancer susceptibility
    Cheryl L Thompson
    Department of Family Medicine and Community Health, Case Western Reserve University and University Hospitals Case Medical Center, Cleveland, Ohio, USA
    PLoS ONE 8:e64122. 2013
    ..Recent studies have established the 15-PGDH gene as a colon cancer suppressor...
  42. pmc Evaluation of removable statistical interaction for binary traits
    Jaya M Satagopan
    Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    Stat Med 32:1164-90. 2013
    ..We illustrate the proposed test and use of the transformation by using case-control data from three published studies. Finally, we indicate how one can check that, after transformation, no further interaction is significant...
  43. ncbi request reprint The bias introduced by population stratification in IBD based linkage analysis
    Tao Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Hum Hered 60:134-42. 2005
    ..Bias can be eliminated or alleviated by inclusion of founders' or other family members' genotype data. When this is not possible, new methods need to be developed to be robust to population stratification...
  44. ncbi request reprint Extension of the Haseman-Elston regression model to longitudinal data
    Sungho Won
    Department of Epidemiology and Biostatistics, Case Western Reserve University, USA
    Hum Hered 61:111-9. 2006
    ..Independence models did not preserve the test sizes, while the mixed models with both family and sibpair random effects tended to preserve size well...
  45. ncbi request reprint Genetic characterization and fine mapping of susceptibility loci for sarcoidosis in African Americans on chromosome 5
    Courtney Gray-McGuire
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    Hum Genet 120:420-30. 2006
    ..2. We conclude that multiple susceptibility loci for sarcoidosis exist in African Americans and that some may have interdependent effects on disease pathogenesis...
  46. pmc Improved power by use of a weighted score test for linkage disequilibrium mapping
    Tao Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Am J Hum Genet 80:353-60. 2007
    ..This method provides an additional tool to existing methods for identification of causative genetic variants underlying complex diseases...
  47. pmc A genome-wide linkage scan identifies multiple quantitative trait loci for HDL-cholesterol levels in families with premature CAD and MI
    Rong Yang
    Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Center for Cardiovascular Genetics, Cleveland, OH 44195, USA
    J Lipid Res 51:1442-51. 2010
    ....
  48. pmc Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders
    Cynthia M Beall
    Department of Anthropology, Case Western Reserve University, Cleveland, OH 44106 7125, USA
    Proc Natl Acad Sci U S A 107:11459-64. 2010
    ..Whichever of these explanations is correct, the evidence for genetic selection at the EPAS1 locus from the GWADS study is supported by the replicated studies associating function with the allelic variants...
  49. pmc Pleiotropic effects of a chromosome 3 locus on speech-sound disorder and reading
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Rammelkamp Center for Research, Case Western Reserve University, Cleveland, OH 44109, USA
    Am J Hum Genet 74:283-97. 2004
    ..9 cM and is bounded by markers D3S3049 and D3S3045. Our results suggest that domains common to SSD and dyslexia are pleiotropically influenced by a putative quantitative trait locus on chromosome 3...
  50. pmc Genome-wide linkage scan for genes affecting longitudinal trends in systolic blood pressure
    Kevin B Jacobs
    Department of Epidemiology and Biostatistics, Division of Genetic and Molecular Epidemiology, Case Western Reserve University, Cleveland, Ohio, USA
    BMC Genet 4:S82. 2003
    ..The most significant results from our analyses were found on chromosomes 12, 15, and 17 for mean SBP, and chromosome 20 for both SBP slope and curvature...
  51. pmc Local false discovery rate and minimum total error rate approaches to identifying interesting chromosomal regions
    Ritwik Sinha
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    BMC Genet 6:S23. 2005
    ..Another criterion, the minimum total error, is also explored. Both criteria seem to be sensible alternatives to controlling the classical type I and type II error rates...
  52. ncbi request reprint Distribution and magnitude of type I error of model-based multipoint lod scores: implications for multipoint mod scores
    Chao Xing
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Genet Epidemiol 30:447-58. 2006
    ..Therefore, caution should be taken in interpreting results when employing multipoint lod score and mod score approaches, in particular when inferring the level of linkage significance and the mode of inheritance of a trait...
  53. pmc Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS)
    Tao Feng
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Genet Epidemiol 35:398-409. 2011
    ..We demonstrated that family data are extremely informative in searching for rare variants underlying complex traits, and the odds ratio weighted sum statistic is more efficient than currently existing methods...
  54. pmc A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study
    James H Schick
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44109 1998, USA
    Am J Hum Genet 72:1412-24. 2003
    ..89 cM), showed the strongest indication of linkage, with a P value of.004. Three other regions, on chromosomes 5, 6, and 15, that were nominally significant at P< or =.01 are also appropriate for fine mapping...
  55. pmc Genome-Wide Association and Trans-ethnic Meta-Analysis for Advanced Diabetic Kidney Disease: Family Investigation of Nephropathy and Diabetes (FIND)
    Sudha K Iyengar
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America
    PLoS Genet 11:e1005352. 2015
    ..These data identify a novel DKD susceptibility locus with consistent directions of effect across diverse ancestral groups and provide insight into the genetic architecture of DKD. ..
  56. pmc A likelihood ratio-based Mann-Whitney approach finds novel replicable joint gene action for type 2 diabetes
    Qing Lu
    Department of Epidemiology and Biostatistics, Michigan State University, East Lansing, Michigan, USA
    Genet Epidemiol 36:583-93. 2012
    ..29×10-5). The nominal significance of this same association reached 4.01×10-6 in the NHS/HPFS...
  57. pmc Linkage studies of catechol-O-methyltransferase (COMT) and dopamine-beta-hydroxylase (DBH) cDNA expression levels
    Chao Xing
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Wolstein Research Building 2103, Cornell Drive, Cleveland, Ohio 44106, USA
    BMC Proc 1:S95. 2007
    ..We also found that chromosome 19p13 showed both additive and interactive effects with 9q34 on DBH expression level. Furthermore, a potential interaction between COMT and DBH was indicated...
  58. ncbi request reprint Robust asymptotic sampling theory for correlations in pedigrees
    K J Keen
    Department of Epidemiology and Biostatistics, Case Western Reserve University, MetroHealth Medical Center, 2500 MetroHealth Drive, Cleveland, Ohio 44109 1998, U S A
    Stat Med 22:3229-47. 2003
    ..Discussion concludes with an example and a suggestion for future research...
  59. pmc Estimating haplotype frequencies in pooled DNA samples when there is genotyping error
    Shannon R E Quade
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Rd, Cleveland, Ohio 44106 7281, USA
    BMC Genet 6:25. 2005
    ..We explore model parameters including allele frequency, inter-marker linkage disequilibrium (LD), genotyping error rate, and pool size...
  60. pmc Fine-mapping using the weighted average method for a case-control study
    Kijoung Song
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    BMC Genet 6:S67. 2005
    ..However, the strength of the signal depends on both the strength of the linkage disequilibrium and the heterozygosity of the linked marker...
  61. ncbi request reprint The genetic basis of complex traits: rare variants or "common gene, common disease"?
    Sudha K Iyengar
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    Methods Mol Biol 376:71-84. 2007
    ..The allelic spectrum of variation in a particular gene may be better explained by one of the two hypotheses but, for a multifactorial trait, a composite encompassing all influential genes needs to be constructed...
  62. pmc Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes
    Qing Lu
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Am J Hum Genet 82:641-51. 2008
    ..The area under the receiver operating characteristic (ROC) curve (AUC) of the proposed test is estimated to be higher (AUC = 0.671) than for the existing test (AUC = 0.580)...
  63. pmc Genetic association tests: a method for the joint analysis of family and case-control data
    Courtney Gray-McGuire
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
    Hum Genomics 4:2-20. 2009
    ..Finally, we present the power of this binary extension for both family-only and joint family and case-control data, and demonstrate the accuracy of the association parameter and variance components in an ascertained family sample...
  64. pmc In silico gene prioritization by integrating multiple data sources
    Yixuan Chen
    Department of Electrical Engineering and Computer Science, Case Western Reserve University, Cleveland, Ohio, United States of America
    PLoS ONE 6:e21137. 2011
    ..In particular, a very recent study has observed a deletion of TH in a patient with PD, which supports the importance of the TH gene in PD pathogenesis. A web tool has been implemented to assist scientists in their genetic studies...
  65. pmc Testing gene-environment interactions in gene-based association studies
    Xuefeng Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland, OH 44106 7281, USA
    BMC Proc 5:S26. 2011
    ..We demonstrate through a genome scan of the quantitative phenotype Q1 that the simulated gene-environment interaction effect in the data can be detected with reasonable power by using the least-squares kernel machine method...
  66. ncbi request reprint A modified revisited Haseman-Elston method to further improve power
    Tao Wang
    Department of Epidemiology and Biostatistics, Wolstein Research Building, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 7281, USA
    Hum Hered 57:109-16. 2004
    ....
  67. ncbi request reprint Apolipoprotein E and obstructive sleep apnea: evaluating whether a candidate gene explains a linkage peak
    Emma K Larkin
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 11400 Euclid Avenue, Ste 260, Cleveland, OH 44106 6083, USA
    Genet Epidemiol 30:101-10. 2006
    ..Overall, the evidence suggests that there is a disease susceptibility locus for obstructive sleep apnea in the region of ApoE, but ApoE itself is unlikely to be the causative locus...
  68. ncbi request reprint A meta-analysis of the association of N-acetyltransferase 2 gene (NAT2) variants with breast cancer
    Heather M Ochs-Balcom
    Department of Epidemiology and Biostatistics, Case Western Reserve University, and Ireland Comprehensive Cancer Center at University Hospitals of Cleveland, OH 44106 7281, USA
    Am J Epidemiol 166:246-54. 2007
    ..95, 1.08). These results suggest that there is no overall association between the NAT2 slow- or rapid-acetylation phenotype and breast cancer risk. However, some evidence suggests that smoking may modify this association...
  69. ncbi request reprint Genetics of the apnea hypopnea index in Caucasians and African Americans: I. Segregation analysis
    Sarah G Buxbaum
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44109 1998, USA
    Genet Epidemiol 22:243-53. 2002
    ..14, accounting for 35% of the total variance. These results provide support for an underlying genetic basis for OSA that in African Americans is independent of the contribution of BMI...
  70. ncbi request reprint Optimal two-stage genotyping in population-based association studies
    Jaya M Satagopan
    Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA
    Genet Epidemiol 25:149-57. 2003
    ..The results show that, compared to a one-stage approach, a two-stage procedure typically halves the cost of the study...
  71. pmc Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study
    Hulya Bukulmez
    William S, Rowe Division of Pediatric Rheumatology, Cincinnati Children s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
    Arthritis Res Ther 7:R285-90. 2005
    ..These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6...
  72. pmc Two-stage analysis strategy for identifying the IgM quantitative trait locus
    Tao Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland, Ohio 44106, USA
    BMC Proc 1:S139. 2007
    ....
  73. pmc A method to correct for population structure using a segregation model
    Qingfu Feng
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106 USA
    BMC Proc 3:S104. 2009
    ....
  74. pmc Comparison of a unified analysis approach for family and unrelated samples with the transmission-disequilibrium test to study associations of hypertension in the Framingham Heart Study
    Xiangqing Sun
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    BMC Proc 3:S22. 2009
    ..We discuss the reasons for this inconsistency. After correcting for multiple tests, we did not detect any significant single-nucleotide polymorphisms by either FamCC or the TDT...
  75. pmc A framework for structural equation models in general pedigrees
    Nathan J Morris
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA
    Hum Hered 70:278-86. 2010
    ..In this paper, a framework for implementing structural equation models (SEMs) in family data is proposed...
  76. pmc A logistic mixture model for a family-based association study
    Guan Xing
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    BMC Proc 1:S44. 2007
    ..The simplest version of the model only takes monogenic inheritance into account, but analysis of the GAW simulation data shows that even this simple model can be powerful for complex traits...
  77. pmc A subset of familial colorectal neoplasia kindreds linked to chromosome 9q22.2-31.2
    Georgia L Wiesner
    Department of Genetics, Center for Human Genetics, Ireland Comprehensive Cancer Center, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Proc Natl Acad Sci U S A 100:12961-5. 2003
    ..2-31.2 in a pattern consistent with autosomal dominant disease alleles. These data suggest that a single locus can contribute to disease susceptibility in a subset of patients with nonsyndromic forms of familial colorectal neoplasia...
  78. ncbi request reprint Two-level Haseman-Elston regression for general pedigree data analysis
    Tao Wang
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Genet Epidemiol 29:12-22. 2005
    ..Complex genetic mechanisms, including gene-gene interaction, gene-environmental interaction, and imprinting, can be directly modeled in this version of HE regression...
  79. ncbi request reprint Familial correlations and heritability of maxillary midline diastema
    Jedidiah R Gass
    Department of Orthodontics, Case Western Reserve University, Cleveland, Ohio 44106 4905, USA
    Am J Orthod Dentofacial Orthop 123:35-9. 2003
    ..04 +/- 0.16 in the black sample. The preliminary results suggest a possible genetic basis for maxillary midline diastema and a greater role of environmental factors in the black sample than in the white sample...
  80. pmc Heritability analysis of cytokines as intermediate phenotypes of tuberculosis
    Catherine M Stein
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    J Infect Dis 187:1679-85. 2003
    ..This analysis illustrates the value of such intermediate phenotypes in mapping susceptibility loci for TB and demonstrates that this area deserves further research...
  81. ncbi request reprint Tests for a disease-susceptibility locus allowing for an inbreeding coefficient (F)
    Kijoung Song
    Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, MetroHealth Campus, Case Western Reserve University, Cleveland, OH 44109, USA
    Genetica 119:269-81. 2003
    ..However, in the multiplicative model, the HWD test has virtually no power even when allowing for non-zero F...
  82. pmc A review of the 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package
    Robert C Elston
    Department of Biostatistics and Epidemiology, Case Western Reserve University, Cleveland, OH 44106 7281, USA
    Hum Genomics 1:456-9. 2004
    ..S.A.G.E. is continually being extended and upgraded, however, with automatic downloading of the latest version always available to users...
  83. ncbi request reprint Heritability of renal function in hypertensive families of African descent in the Seychelles (Indian Ocean)
    Murielle Bochud
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Kidney Int 67:61-9. 2005
    ..We estimated the heritability of three measures of glomerular filtration rate (GFR) in hypertensive families of African descent in the Seychelles (Indian Ocean)...
  84. ncbi request reprint Increase in power of transmission-disequilibrium tests for quantitative traits
    Ida Malkin
    Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Genet Epidemiol 23:234-44. 2002
    ....
  85. ncbi request reprint The distribution of long range admixture linkage disequilibrium in an African-American population
    Benjamin A Rybicki
    Department of Biostatistics and Research Epidemiology, Henry Ford Health System, Detroit, Mich 48202, USA
    Hum Hered 53:187-96. 2002
    ..To better understand the effect of admixture on long range linkage disequilibrium (LD), we characterized extended LD in gene-rich regions of an African-American population...
  86. pmc A whole-genome scan for obstructive sleep apnea and obesity
    Lyle J Palmer
    Channing Laboratory, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 72:340-50. 2003
    ....
  87. pmc The structure of linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma dopamine beta-hydroxylase activity
    Cyrus P Zabetian
    Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA
    Am J Hum Genet 72:1389-400. 2003
    ..These results provide a direct example of the potential value of constructing a haplotype map of the human genome prior to embarking on large-scale association studies...
  88. pmc Nonparametric disequilibrium mapping of functional sites using haplotypes of multiple tightly linked single-nucleotide polymorphism markers
    Rong Cheng
    Department of Psychiatry, The University of Texas Health Science Center, San Antonio, Texas 78229, USA
    Genetics 164:1175-87. 2003
    ..The sensitivity of the proposed procedure was examined on the simulated data set from the Genetic Analysis Workshop (GAW) 12. Compared with the conventional and generalized TDT methods, our procedure is more flexible and powerful...
  89. ncbi request reprint X-linked extension of the revised Haseman-Elston algorithm for linkage analysis in sib pairs
    Howard Wiener
    Department of Epidemiology, University of Alabama at Birmingham, Birmingham, Ala 35294 0022, USA
    Hum Hered 55:97-107. 2003
    ..Simulation results are presented to describe the power of this technique for a theoretical best case scenario...
  90. pmc Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis
    Qing Wang
    Center for Cardiovascular Genetics, Department of Cardiovascular Medicine, Lerner Research Institute, The Cleveland Clinic Foundation, OH 44195, USA
    Am J Hum Genet 74:262-71. 2004
    ..The present study thus identifies a novel genetic-susceptibility locus for MI and provides a framework for the ultimate cloning of a gene for the complex disease MI...
  91. pmc A genome-wide scan to identify loci for smoking rate in the Framingham Heart Study population
    Ming D Li
    Department of Psychiatry, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    BMC Genet 4:S103. 2003
    ..To identify susceptibility loci for nicotine dependence, 313 extended pedigrees selected from the Framingham Heart Study population were analyzed by both the GENEHUNTER and S.A.G.E. programs...
  92. pmc Mapping susceptibility loci for alcohol consumption using number of grams of alcohol consumed per day as a phenotype measure
    Jennie Z Ma
    Department of Psychiatry, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    BMC Genet 4:S104. 2003
    ....
  93. ncbi request reprint Whole genome scan for obstructive sleep apnea and obesity in African-American families
    Lyle J Palmer
    Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Perth, Australia
    Am J Respir Crit Care Med 169:1314-21. 2004
    ..Our results suggest that there are both shared and unshared genetic factors underlying susceptibility to OSA and obesity, and that the genetic determinants of obesity in this population may be modulated by apnea severity...
  94. pmc Linkage analysis of a complex disease through use of admixed populations
    Xiaofeng Zhu
    Department of Preventive Medicine and Epidemiology, Loyola University Medical Center, Maywood, IL 60153, USA
    Am J Hum Genet 74:1136-53. 2004
    ..Our results show that the sample size required to obtain 90% power to detect a putative mutant allele at a genomewide significance level of 5% can usually be achieved in practice if informative markers are available at a density of 2 cM...
  95. ncbi request reprint Sampling correction in linkage analysis
    Emil Ginsburg
    Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Genet Epidemiol 27:87-96. 2004
    ..In either case, the pedigree proband sampling frame must be identified...
  96. ncbi request reprint Fine mapping functional sites or regions from case-control data using haplotypes of multiple linked SNPs
    Rong Cheng
    Program in Genomics and Bioinformatics on Drug Addiction, Department of Psychiatry, The University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA
    Ann Hum Genet 69:102-12. 2005
    ..Moreover, the program is very flexible and can be used in either regional or genome-wide scanning for association analysis with SNP markers...
  97. ncbi request reprint Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT
    Garry P Larson
    Division of Molecular Medicine, Beckman Research Institute, City of Hope National Medical Center, 1500 East Duarte Road, Duarte, CA 91010 3000, USA
    Cancer Res 65:805-14. 2005
    ..54, df = 1, P = 0.0035). Our results strongly suggest involvement of germline variations of FHIT in prostate cancer risk...
  98. pmc Single- and multilocus allelic variants within the GABA(B) receptor subunit 2 (GABAB2) gene are significantly associated with nicotine dependence
    Joke Beuten
    Department of Psychiatry, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA
    Am J Hum Genet 76:859-64. 2005
    ..In summary, our findings provide evidence of a significant association of GABAB2 variants with ND, implying that this gene plays an important role in the etiology of this drug addiction...
  99. ncbi request reprint Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence
    Ming D Li
    Hum Mol Genet 14:1211-9. 2005
    ..In summary, our findings provide convincing evidence for the involvement of the nAChR alpha4 subunit, but not of the nAChR beta2 subunit, in nicotine addiction...
  100. ncbi request reprint Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence
    Jennie Z Ma
    Program in Genomics and Bioinformatics on Drug Addiction, Department of Psychiatry, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA
    Hum Mol Genet 14:1691-8. 2005
    ..73, P=0.005 for FTND). In summary, our findings provide the first evidence for the involvement of DDC in the susceptibility to ND and, further, reveal the racial specificity of its impact...
  101. ncbi request reprint A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26
    Ram S Puranam
    Department of Medicine Neurology, Duke University, Durham, NC 27710, USA
    Ann Neurol 58:449-58. 2005
    ..000065). Fine mapping of the locus defined an interval of 4.45Mb. These findings identify a novel locus for GTCS on 10q25-q26 and support the idea that distinct loci underlie distinct seizure types within an epilepsy syndrome such as JME...