J Ott

Summary

Affiliation: The Rockefeller University
Country: USA

Publications

  1. pmc Systematic removal of outliers to reduce heterogeneity in case-control association studies
    Yuanyuan Shen
    Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
    Hum Hered 70:227-31. 2010
  2. pmc Adjusting for HLA-DRbeta1 in a genome-wide association analysis of rheumatoid arthritis and related biomarkers
    Abigail G Matthews
    Laboratory of Statistical Genetics, Rockefeller University, Box 192, 1230 York Avenue, New York, NY 10065, USA
    BMC Proc 3:S12. 2009
  3. pmc Genetic predisposition for femoral neck stress fractures in military conscripts
    Johanna Korvala
    Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    BMC Genet 11:95. 2010
  4. pmc Combining identity by descent and association in genetic case-control studies
    Qingrun Zhang
    Beijing Institute of Genomics, Chinese Academy of Sciences, No 7 Bei Tu Cheng West Road, Beijing 100029, PR China
    BMC Genet 9:42. 2008
  5. pmc Multilocus association mapping using generalized ridge logistic regression
    Zhe Liu
    Department of Statistics, University of Chicago, IL 60637, USA
    BMC Bioinformatics 12:384. 2011
  6. pmc SNP haplotype tagging from DNA pools of two individuals
    Josephine Hoh
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA
    BMC Bioinformatics 4:14. 2003
  7. ncbi request reprint Issues in association analysis: error control in case-control association studies for disease gene discovery
    Jurg Ott
    Rockefeller University, New York, NY 10021 6399, USA
    Hum Hered 58:171-4. 2004
  8. ncbi request reprint Statistical multilocus methods for disequilibrium analysis in complex traits
    J Ott
    Rockefeller University, New York, New York, USA
    Hum Mutat 17:285-8. 2001
  9. ncbi request reprint Set association analysis of SNP case-control and microarray data
    Jurg Ott
    Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    J Comput Biol 10:569-74. 2003
  10. ncbi request reprint Linkage analysis in heterogeneous and complex traits
    J Ott
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA
    Eur Child Adolesc Psychiatry 8:43-6. 1999

Research Grants

Collaborators

Detail Information

Publications91

  1. pmc Systematic removal of outliers to reduce heterogeneity in case-control association studies
    Yuanyuan Shen
    Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China
    Hum Hered 70:227-31. 2010
    ..In human case-control association studies, population heterogeneity is often present and can lead to increased false-positive results. Various methods have been proposed and are in current use to remedy this situation...
  2. pmc Adjusting for HLA-DRbeta1 in a genome-wide association analysis of rheumatoid arthritis and related biomarkers
    Abigail G Matthews
    Laboratory of Statistical Genetics, Rockefeller University, Box 192, 1230 York Avenue, New York, NY 10065, USA
    BMC Proc 3:S12. 2009
    ..Other autoantibodies are also associated with RA, specifically rheumatoid factor IgM (RFUW) and anti-cyclic citrullinated peptide (anti-CCP)...
  3. pmc Genetic predisposition for femoral neck stress fractures in military conscripts
    Johanna Korvala
    Oulu Center for Cell Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
    BMC Genet 11:95. 2010
    ..Genetic factors may increase the risk, but no major susceptibility genes have been identified. The purpose of this study was to search for possible genetic factors predisposing military conscripts to femoral neck stress fractures...
  4. pmc Combining identity by descent and association in genetic case-control studies
    Qingrun Zhang
    Beijing Institute of Genomics, Chinese Academy of Sciences, No 7 Bei Tu Cheng West Road, Beijing 100029, PR China
    BMC Genet 9:42. 2008
    ....
  5. pmc Multilocus association mapping using generalized ridge logistic regression
    Zhe Liu
    Department of Statistics, University of Chicago, IL 60637, USA
    BMC Bioinformatics 12:384. 2011
    ..In this study, inspired by the idea of scan statistics, we propose a novel sliding window-based method for identifying a parsimonious subset of contiguous SNPs that best predict disease status...
  6. pmc SNP haplotype tagging from DNA pools of two individuals
    Josephine Hoh
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA
    BMC Bioinformatics 4:14. 2003
    ..DNA pooling is a technique to reduce genotyping effort while incurring only minor losses in accuracy of allele frequency estimates for single nucleotide polymorphism (SNP) markers...
  7. ncbi request reprint Issues in association analysis: error control in case-control association studies for disease gene discovery
    Jurg Ott
    Rockefeller University, New York, NY 10021 6399, USA
    Hum Hered 58:171-4. 2004
    ..Stratification of data into more homogeneous subgroups is advocated as a simple solution to allowing for non-genetic risk factors such as socio-economic status and food preferences...
  8. ncbi request reprint Statistical multilocus methods for disequilibrium analysis in complex traits
    J Ott
    Rockefeller University, New York, New York, USA
    Hum Mutat 17:285-8. 2001
    ..Examples of two procedures for marker selection are given with subsequent modeling of main and interaction effects. The approaches are applied to a data set with 89 SNPs in lieu of a genome screen with many more markers...
  9. ncbi request reprint Set association analysis of SNP case-control and microarray data
    Jurg Ott
    Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    J Comput Biol 10:569-74. 2003
    ..We extended our method to microarray expression data, where expression levels for large numbers of genes should be compared between two tissue types. In applications to such data, our approach turned out to be highly efficient...
  10. ncbi request reprint Linkage analysis in heterogeneous and complex traits
    J Ott
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA
    Eur Child Adolesc Psychiatry 8:43-6. 1999
    ..Methods for ascertainment corrections are recommended. A generalized version of heterogeneity analysis is introduced and are shown to provide an effective single-locus analysis for complex traits...
  11. pmc Genetic susceptibility to heroin addiction: a candidate gene association study
    O Levran
    The Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY, USA
    Genes Brain Behav 7:720-9. 2008
    ..0005). None of these associations remained significant after adjustment for multiple testing. This study suggests the involvement of several genes and variants in heroin addiction, which is worthy of future study...
  12. pmc The Ising model in physics and statistical genetics
    J Majewski
    Laboratory of Statistical Genetics, The Rockefeller University, New York, NY, 10021, USA
    Am J Hum Genet 69:853-62. 2001
    ..A reanalysis of data on type 1 diabetes detects several susceptibility loci not previously found by other methods of analysis...
  13. pmc Complement factor H polymorphism in age-related macular degeneration
    Robert J Klein
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 308:385-9. 2005
    ..This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies...
  14. pmc A transmission/disequilibrium test that allows for genotyping errors in the analysis of single-nucleotide polymorphism data
    D Gordon
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY, 10021, USA
    Am J Hum Genet 69:371-80. 2001
    ..Finally, the power of TDT(std) is at least that of TDT(ae) for simulations with errorless data. Because data are rarely error free, we recommend that researchers use methods, such as the TDT(ae), that allow for errors in genotype data...
  15. pmc Association of polymorphisms of the cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) genes with heroin addiction: impact of long repeats of CNR1
    D Proudnikov
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Pharmacogenomics J 10:232-42. 2010
    ..Also in Caucasians, the genotype pattern, 1359G>A and -6274A>T, was significantly associated with heroin addiction experiment wise (P=0.0244). No association of FAAH 385C>A with heroin addiction was found in any group studied...
  16. pmc Effects of stratification in the analysis of affected-sib-pair data: benefits and costs
    S M Leal
    The Rockefeller University, 1230 York Avenue, Box 192, New York, NY 10021 6399, USA
    Am J Hum Genet 66:567-75. 2000
    ..Even for values of the relative risk that diverge sufficiently from 1, with adequate sample sizes and IBD allele sharing, the benefits of stratifying ASP data are minimal...
  17. ncbi request reprint Two approaches for consolidating results from genome scans of complex traits: selection methods and scan statistics
    D Gordon
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, Box 192, New York City, NY 10021, USA
    Genet Epidemiol 21:S396-402. 2001
    ..4 and 0.5. For purpose (ii), the scan statistic proved equally or more powerful than the single-locus statistic for two of the seven susceptibility genes while the remaining five genes were not detected...
  18. pmc Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women
    Bronson E Oosterhuis
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, New York 10021, USA
    Am J Med Genet B Neuropsychiatr Genet 147:793-8. 2008
    ..05) after correction for multiple testing. No significant association was found with haplotypes of the three most common SNPs. Linkage disequilibrium patterns were similar for the three ethnic/cultural groups...
  19. pmc Trimming, weighting, and grouping SNPs in human case-control association studies
    J Hoh
    Laboratory of Statistical Genetics, Rockefeller University, New York, New York 10021, USA
    Genome Res 11:2115-9. 2001
    ..In contrast to other available methods, our method to detect association to sets of SNP markers in different genes in a real data application has shown remarkable success...
  20. ncbi request reprint Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners
    D Gordon
    Laboratory of Statistical Genetics, Rockefeller University, New York, New York 10021, USA
    Genomics 66:87-92. 2000
    ..Our findings indicate that Afrikaans-speaking Afrikaners represent one of those special populations deemed particularly suitable for disequilibrium mapping...
  21. pmc Heroin addiction in African Americans: a hypothesis-driven association study
    O Levran
    The Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Genes Brain Behav 8:531-40. 2009
    ..Further studies will be necessary to replicate these associations and to elucidate the roles of these variants in drug addiction vulnerability...
  22. pmc A genomewide screen for autism susceptibility loci
    J Liu
    Columbia Genome Center and Department of Psychiatry, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 69:327-40. 2001
    ..05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19...
  23. ncbi request reprint Association of angiotensinogen gene polymorphisms with essential hypertension in African-Americans and Caucasians
    Daniela Markovic
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, NY 10021, USA
    Hum Hered 60:89-96. 2005
    ..We employed a case-control study to determine whether single nucleotide polymorphisms (SNPs) in the promoter region of AGT were associated with hypertension in African-Americans and Caucasians...
  24. pmc Ethnic diversity of DNA methylation in the OPRM1 promoter region in lymphocytes of heroin addicts
    David A Nielsen
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, Box 171, 1230 York Avenue, New York 10065, USA
    Hum Genet 127:639-49. 2010
    ..These changes in methylation of the OPRM1 promoter region may lead to altered expression of the mu-opioid receptor gene in the lymphocytes of former heroin addicts who are stabilized in methadone maintenance treatment...
  25. ncbi request reprint Neural networks and disease association studies
    J Ott
    Rockefeller University, New York, New York 10021 6399, USA
    Am J Med Genet 105:60-1. 2001
    ..After a brief introduction to neural networks, specific applications are proposed for the analysis of association between single nucleotide polymorphisms and putative disease genes in case-control studies...
  26. ncbi request reprint A train of thoughts on gene mapping
    J Hoh
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, New York 10021, USA
    Theor Popul Biol 60:149-53. 2001
    ..Here we introduce alternative approaches to marker selection and discuss issues regarding analytical tools for disease gene mapping, marker selection, and statistical modeling...
  27. pmc The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases
    H C Tsou
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY, USA
    Am J Hum Genet 61:1036-43. 1997
    ..Finally, we did not detect MMAC1 mutations in a subpopulation of individuals with early-onset breast cancer, suggesting that germ-line mutations in this gene do not appear to be common in this group...
  28. ncbi request reprint Alopecia universalis associated with a mutation in the human hairless gene
    W Ahmad
    Department of Dermatology, Columbia University, 630 West 168 Street, VC 15 526, New York, NY 10032, USA
    Science 279:720-4. 1998
    ..Human hairless encodes a putative single zinc finger transcription factor protein with restricted expression in the brain and skin...
  29. ncbi request reprint Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia
    Zhihua Han
    Starr Center Human Genetics, Rockefeller University, New York, New York 10021, USA
    Am J Med Genet 110:234-42. 2002
    ..We further confirmed the connection between the apo AII gene and Tg level by a nonparametric linkage analysis. We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease...
  30. ncbi request reprint Mathematical multi-locus approaches to localizing complex human trait genes
    Josephine Hoh
    Laboratory of Statistical Genetics, Rockefeller University, New York 10021, USA
    Nat Rev Genet 4:701-9. 2003
    ..We aim to show that the work of statisticians goes far beyond the running of computer programs...
  31. pmc Genotype patterns that contribute to increased risk for or protection from developing heroin addiction
    D A Nielsen
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Mol Psychiatry 13:417-28. 2008
    ..This approach has identified several new genes potentially associated with heroin addiction and has confirmed the role of OPRM1 in this disease...
  32. pmc MHC fine mapping of human type 1 diabetes using the T1DGC data
    C He
    Laboratory of Statistical Genetics, The Rockefeller University, New York, NY, USA
    Diabetes Obes Metab 11:53-9. 2009
    ..To fine map the disease locus in this region, we carried out both linkage and association analyses using the Type 1 Diabetes Genetics Consortium data...
  33. pmc A functional haplotype implicated in vulnerability to develop cocaine dependence is associated with reduced PDYN expression in human brain
    Vadim Yuferov
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Neuropsychopharmacology 34:1185-97. 2009
    ....
  34. ncbi request reprint Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden
    Gavin Bart
    The Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10021, USA
    Neuropsychopharmacology 30:417-22. 2005
    ..1%. There was no difference in A118G genotype between type 1 and type 2 alcoholics. In central Sweden, the functional variant 118G allele in exon 1 of OPRM1 is associated with an increased attributable risk for alcohol dependence...
  35. ncbi request reprint Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction
    Vadim Yuferov
    aLaboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10021, USA
    Pharmacogenetics 14:793-804. 2004
    ..0742, 0.1015 and 0.0041. Combining ethnicities by Fisher's method yields an empirical significance level of P = 0.0020...
  36. ncbi request reprint Sum statistics for the joint detection of multiple disease loci in case-control association studies with SNP markers
    Anja Wille
    Laboratory of Statistical Genetics, Rockefeller University, New York, New York 10021, USA
    Genet Epidemiol 25:350-9. 2003
    ..A method is presented that takes the correlation structure among marker loci into account when marker statistics are combined...
  37. pmc Association of polymorphisms in the melanocortin receptor type 2 (MC2R, ACTH receptor) gene with heroin addiction
    Dmitri Proudnikov
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, 1230 York Avenue, New York, NY 10065, USA
    Neurosci Lett 435:234-9. 2008
    ..0014, experiment-wise p=0.0168), whereas another haplotype, AACT, consisting of the same variants, was associated with a protective effect from heroin addiction (p=0.0039, experiment-wise p=0.0468)...
  38. doi request reprint TPH2 and TPH1: association of variants and interactions with heroin addiction
    David A Nielsen
    Laboratory of Biology of the Addictive Diseases, The Rockefeller University, Box 171, 1230 York Avenue, New York, NY 10065, USA
    Behav Genet 38:133-50. 2008
    ..022), and with the TPH2 rs4290270 variant and heroin addiction (P=0.011). In the African-American group, a significant association of a specific TPH2 haplotype with heroin addiction also was found (SNPHAP, P=0.004; PHASE P=0.036)...
  39. pmc ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence
    Orna Levran
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Hum Mol Genet 17:2219-27. 2008
    ..026). These data suggest that specific ABCB1 variants may have clinical relevance by influencing the methadone dose required to prevent withdrawal symptoms and relapse in this population...
  40. ncbi request reprint Association analysis of polymorphisms in serotonin 1B receptor (HTR1B) gene with heroin addiction: a comparison of molecular and statistically estimated haplotypes
    Dmitri Proudnikov
    Laboratory of the Biology of Addictive Diseases, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Pharmacogenet Genomics 16:25-36. 2006
    ....
  41. pmc Distribution and characterization of regulatory elements in the human genome
    Jacek Majewski
    Rockefeller University, New York, New York 10021, USA
    Genome Res 12:1827-36. 2002
    ..We also study the distribution of two known regulatory motifs, the GGG trinucleotide and the CpG dinucleotide, and deduce their respective importance to splicing and transcription regulation...
  42. pmc Genome-wide autozygosity mapping in human populations
    Shuang Wang
    Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York 10032, USA
    Genet Epidemiol 33:172-80. 2009
    ..We illustrate the advantage of the algorithm with its application to a genome-wide association study on Parkinson's disease...
  43. pmc Efficiency of single-nucleotide polymorphism haplotype estimation from pooled DNA
    Yaning Yang
    Laboratory of Statistical Genetics, The Rockefeller University, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 100:7225-30. 2003
    ..Completely or partially missing genotyping information is allowed for in our analysis. Finally, our methods are applied to single-nucleotide polymorphisms in the angiotensinogen gene...
  44. ncbi request reprint Statistical methods for analyzing microarray feature data with replications
    Yaning Yang
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA
    J Comput Biol 10:157-69. 2003
    ..To detect a set of differentially expressed genes (multiple testing problem), we applied the method of controlling the false discovery rate (FDR), which successfully identified 207 genes with significantly different expression levels...
  45. pmc Collapsing SNP genotypes in case-control genome-wide association studies increases the type I error rate and power
    Abigail G Matthews
    Rockefeller University, USA
    Stat Appl Genet Mol Biol 7:Article23. 2008
    ..e., the rate of false positives). However, one of these methods does lead to an increase in power compared with the usual genotype- and allele-based tests for most genetic models...
  46. pmc Increased OPRM1 DNA methylation in lymphocytes of methadone-maintained former heroin addicts
    David A Nielsen
    Laboratory of the Biology of the Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Neuropsychopharmacology 34:867-73. 2009
    ..080). Both the -18 and the +84 CpG sites are located in potential Sp1 transcription factor-binding sites. Methylation of these CpG sites may lead to reduced OPRM1 expression in the lymphocytes of these former heroin addicts...
  47. ncbi request reprint Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms
    Jacek Majewski
    Laboratory of Statistical Genetics, Box 192, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Gene 305:167-73. 2003
    ..We also estimate that less than 51% of amino acid substitutions occurring in the human genome are evolutionarily neutral...
  48. ncbi request reprint Establishing appropriate genome-wide significance levels for canine linkage analyses
    D Gordon
    Laboratory of Statistical Genetics, Rockefeller University, 1230 York Ave, New York, NY 10021, USA
    J Hered 94:1-7. 2003
    ..2 be used for canine linkage studies when fine mapping is performed, and that researchers perform their own simulation studies to assess genome-wide empirical significance levels when no fine mapping is performed...
  49. ncbi request reprint Ascertainment and anticipation in family studies
    J Hoh
    Division of Biostatistics, Columbia University, New York, NY, USA
    Hum Hered 51:23-6. 2001
    ..We further demonstrate that such anticipation is reduced when comparing affected children to the parents' affected siblings...
  50. pmc GT repeats are associated with recombination on human chromosome 22
    J Majewski
    Laboratory of Statistical Genetics, Rockefeller University, New York, New York 10021, USA
    Genome Res 10:1108-14. 2000
    ..We show significant correlation between long tandem GT repeats, which are known to form Z-DNA and interact with several components of the recombination machinery, and recombination hot spots on human chromosome 22...
  51. pmc CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer
    Yu Wei Cheng
    Department of Microbiology and Immunology, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA
    Clin Cancer Res 14:6005-13. 2008
    ..Nevertheless, the relative importance of CIMP and chromosomal instability (CIN) for tumorigenesis has yet to be thoroughly investigated in sporadic colorectal cancers...
  52. pmc Self administration of oxycodone by adolescent and adult mice affects striatal neurotransmitter receptor gene expression
    B Mayer-Blackwell
    The Laboratory of the Biology of Addictive Diseases, The Rockefeller University, New York, NY 10065, USA
    Neuroscience 258:280-91. 2014
    ..Overall, this study demonstrates that repeated oxycodone self administration alters neurotransmitter receptors gene expression in the dorsal striatum of adolescent and adult mice...
  53. pmc Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory
    S Barral
    Gertrude H Sergievsky Center, The Taub Institute for Research on Alzheimer s Disease and the Aging Brain and the Department ofNeurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Neurology 78:1464-71. 2012
    ..An alternative approach is the use of multilocus genotype patterns (MLGPs) that combine SNPs at different susceptibility genes...
  54. pmc Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder
    M Karayiorgou
    The Rockefeller University, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 94:4572-5. 1997
    ..The mechanism underlying this sex-selective association remains to be defined and may include a sexual dimorphism in COMT activity, although close linkage with a nearby disease susceptibility locus cannot be excluded at this point...
  55. pmc Nucleotide frequency variation across human genes
    Elizabeth Louie
    The Rockefeller University, New York, New York 10021, USA
    Genome Res 13:2594-601. 2003
    ....
  56. ncbi request reprint Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (syndrome X) on the Island of Kosrae, Federated States of Micronesia
    D Shmulewitz
    Laboratory of Molecular Genetics, Rockefeller University, New York, NY 10021, USA
    Hum Hered 51:8-19. 2001
    ..To further understand the pathogenesis of syndrome X, a comprehensive epidemiological study was undertaken on the Pacific Island of Kosrae, Federated States of Micronesia (FSM)...
  57. ncbi request reprint Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12
    J Liu
    Columbia Genome Center and Department o fPsychiatry, Columbia University, New York, NY 10032, USA
    Mol Psychiatry 8:333-42. 2003
    ..Two of the regions implicated in our study, 2p13-14 and 13q32, have also been linked to schizophrenia, suggesting that the two disorders may have susceptibility genes in common...
  58. ncbi request reprint Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3
    P Banerjee
    Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    Genomics 48:171-7. 1998
    ..With a STS density of approximately 1 every 20 kilobases, this contig significantly enhances available maps of the region...
  59. pmc The p53MH algorithm and its application in detecting p53-responsive genes
    J Hoh
    Laboratories of Statistical Genetics and Cancer Biology of The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 99:8467-72. 2002
    ..Ten (approximately 63%) of these genes responded to the presence of p53...
  60. ncbi request reprint Expanded genome scan in extended families with age-related macular degeneration
    Sandra Barral
    Laboratory of Statistical Genetics, Rockefeller University, New York, New York, USA
    Invest Ophthalmol Vis Sci 47:5453-9. 2006
    ..To investigate further the genetic contribution to age-related macular degeneration (AMD), increasing the power of a previous analysis and reproducing the original findings...
  61. ncbi request reprint Survival analysis of microarray expression data by transformation models
    Jinfeng Xu
    Department of Statistics, Columbia University, New York, NY 10027, USA
    Comput Biol Chem 29:91-4. 2005
    ..Hanash, S., 2002. Gene-expression profiles predict survival of patients with lung adenocarcinoma. Nat. Med. 8 (8), 816-824] and show that the transformation model provides higher prediction precision than the proportional hazards model...
  62. ncbi request reprint Insights into gene modulation by therapeutic TNF and IFNgamma antibodies: TNF regulates IFNgamma production by T cells and TNF-regulated genes linked to psoriasis transcriptome
    Asifa S Haider
    Department of Investigative Dermatology, Laboratory of Investigative Dermatology, The Rockefeller University, New York, New York 10021, USA
    J Invest Dermatol 128:655-66. 2008
    ..These data suggest that TNF blockade with infliximab can suppress a major pathway of the adaptive immune response and this observation provides a key rationale for targeting TNF in "Type-1" T-cell-mediated autoimmune diseases...
  63. ncbi request reprint Genetic linkage studies in alopecia areata
    Amalia Martinez-Mir
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
    J Investig Dermatol Symp Proc 8:199-203. 2003
    ....
  64. pmc Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata
    Amalia Martinez-Mir
    Department of Dermatology, Columbia University, New York, NY 10032, USA
    Am J Hum Genet 80:316-28. 2007
    ..Interestingly, the major loci on chromosomes 16 and 18 coincide with loci for psoriasis reported elsewhere. These results suggest that these regions may harbor gene(s) involved in a number of different skin and hair disorders...
  65. ncbi request reprint Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris
    Ana Kljuic
    Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Cell 113:249-60. 2003
    ..We provide evidence that desmoglein 4 is a key mediator of keratinocyte cell adhesion in the hair follicle, where it coordinates the transition from proliferation to differentiation...
  66. ncbi request reprint The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
    Orna Levran
    Laboratory for Human Genetics and Hematology, The Rockefeller University, New York, New York, USA
    Nat Genet 37:931-3. 2005
    ..Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1...
  67. pmc KRAS mutation and microsatellite instability: two genetic markers of early tumor development that influence the prognosis of colorectal cancer
    Garrett M Nash
    Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, USA
    Ann Surg Oncol 17:416-24. 2010
    ....
  68. ncbi request reprint Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43
    Amalia Martinez-Mir
    Department of Dermatology, Columbia University, New York, New York, USA
    J Invest Dermatol 118:876-80. 2002
    ....
  69. ncbi request reprint Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia
    Asifa S Haider
    Laboratory of Investigative Dermatology, Rockefeller University, New York, New York, USA
    J Invest Dermatol 126:869-81. 2006
    ..The current study defines a unique gene expression signature for cutaneous SCC in humans and suggests potential roles for WNT, FZD, and PTN in the pathogenesis of SCC...
  70. pmc The signatures of autozygosity among patients with colorectal cancer
    Manny D Bacolod
    Department of Microbiology, Weill Medical College of Cornell University, New York, NY 10021, USA
    Cancer Res 68:2610-21. 2008
    ....
  71. ncbi request reprint Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans
    Sudhir Jain
    Department of Pathology, New York Medical College, Valhalla, New York 10595, USA
    J Biol Chem 277:36889-96. 2002
    ....
  72. ncbi request reprint Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration
    Dennis W Schultz
    Casey Eye Institute, Oregon Health and Science University, Portland, 97239, USA
    Arch Ophthalmol 121:679-83. 2003
    ..In addition, the epsilon 2 allele of APOE was reported to be possibly associated with an increased risk of AMD...
  73. pmc Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration
    Ivana K Kim
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Mol Vis 14:1487-95. 2008
    ..Additionally we examined the degree to which CRP common variation was in linkage disequilibrium (LD) within our cohort...
  74. ncbi request reprint A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis
    Cynthia Helms
    Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 35:349-56. 2003
    ..This is the second example of loss of a RUNX1 binding site associated with susceptibility to an autoimmune disease. It also suggests defective regulation of SLC9A3R1 or NAT9 by RUNX1 as a susceptibility factor for psoriasis...
  75. ncbi request reprint Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR
    Cynthia Helms
    Department of Genetics, Washington University School of Medicine, Box 8232, 4566 Scott Avenue, St Louis, Missouri, 63110, USA
    Hum Genet 118:466-76. 2005
    ..The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1...
  76. pmc Schizophrenia and oxidative stress: glutamate cysteine ligase modifier as a susceptibility gene
    Mirjana Tosic
    Center for Psychiatric Neuroscience, Lausanne University Hospital, Lausanne, Switzerland
    Am J Hum Genet 79:586-92. 2006
    ..GCLM gene expression is decreased in patients' fibroblasts. Thus, GSH metabolism dysfunction is proposed as one of the vulnerability factors for schizophrenia...
  77. ncbi request reprint Brain-derived neurotrophic factor gene C-270T and Val66Met functional polymorphisms and risk of schizophrenia: a moderate-scale population-based study and meta-analysis
    Ming Qing Xu
    Bio X Centre, Shanghai Jiao Tong University, Shanghai 200030, PR China
    Schizophr Res 91:6-13. 2007
    ..Schizophr. Res. 62, 281-283.] and pls expand this too: Hong et al. (2003) to be significantly associated with schizophrenia. However, subsequently several studies obtained conflicting results...
  78. ncbi request reprint The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration
    Peter J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR 97239, USA
    Hum Hered 63:212-8. 2007
    ....
  79. ncbi request reprint Prodynorphin gene promoter repeat associated with cocaine/alcohol codependence
    Tanya J Williams
    The Laboratories of the Biology of Addictive Diseases and Statistical Genetics, The Rockefeller University, USA
    Addict Biol 12:496-502. 2007
    ....
  80. pmc Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration
    Peter J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States of America
    PLoS ONE 2:e1197. 2007
    ..We aimed to better understand the functional role of this gene in the AMD disease process and assess whether it is associated with earlier forms of the disease...
  81. pmc Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration
    Margaret M DeAngelis
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Ophthalmology 115:1209-1215.e7. 2008
    ....
  82. pmc Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
    Sepideh Zareparsi
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
    Am J Hum Genet 77:149-53. 2005
    ..39 (95% confidence interval 0.36-0.42) and the genotype relative risk to be 2.44 (95% confidence interval 2.08-2.83) for TC heterozygotes and 5.93 (95% confidence interval 4.33-8.02) for CC homozygotes...
  83. ncbi request reprint Association of genetic loci: replication or not, that is the question
    Jurg Ott
    Neurology 63:955-8. 2004
  84. ncbi request reprint Genetic dissection of diseases: design and methods
    Josephine Hoh
    Yale University, Department of Epidemiology and Public Health, 300 George Street, Suite 505, New Haven, CT 06510, USA
    Curr Opin Genet Dev 14:229-32. 2004
    ..Thus, what are most needed in future research are statistical methods for discovering sets of susceptibility genes and environmental factors, as well as systematic verifications of the gene-environment-disease network...
  85. ncbi request reprint Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes
    Blanka Stiburkova
    Center for Integrated Genomics, Institute for Inherited Metabolic Disorders, Charles University 1st School of Medicine and General Faculty Hospital Prague, Czech Republic
    Eur J Hum Genet 11:145-54. 2003
    ....
  86. ncbi request reprint Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in a Chinese population
    Kenneth M C Cheung
    Department of Orthopaedics and Traumatology, University of Hong Kong, Hong Kong, China
    Spine (Phila Pa 1976) 31:1143-8. 2006
    ..Large scale, case-control study...
  87. ncbi request reprint Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration
    Margaret M DeAngelis
    Department of Ophthalmology, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, USA
    Arch Ophthalmol 125:49-54. 2007
    ....
  88. ncbi request reprint Asthma, allergy, and airway hyperresponsiveness are not linked to the beta(2)-adrenoceptor gene
    Charles W Emala
    Department of Anesthesiology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
    Chest 121:722-31. 2002
    ..To exclude genetic linkage between the beta(2)-adrenoceptor gene and asthma, allergy, and methacholine airway hyperresponsiveness...
  89. ncbi request reprint Estimating rates of alternative splicing in mammals and invertebrates
    Heebal Kim
    Nat Genet 36:915-6; author reply 916-7. 2004
  90. doi request reprint CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration
    Michael L Klein
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA
    Ophthalmology 115:1019-25. 2008
    ..To determine if CFH and LOC387715/ARMS2 genotypes influence treatment response to AREDS-type nutritional supplementation with antioxidants and zinc...
  91. pmc Rhesus monkeys and humans share common susceptibility genes for age-related macular disease
    Peter J Francis
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97239, USA
    Hum Mol Genet 17:2673-80. 2008
    ..This is the first evidence that humans and macaques share the same genetic susceptibility factors for a common complex disease...

Research Grants3

  1. QUANTITATIVE METHODS TO MAP GENES FOR COMPLEX TRAITS
    Jurg Ott; Fiscal Year: 2002
    ..abstract_text> ..
  2. LINKAGE ANALYSIS METHODS FOR HUMAN GENE MAPPING
    Jurg Ott; Fiscal Year: 2004
    ..Log linear modeling may be applied to multiple linked or unlinked markers and is expected to be a useful tool for modeling interactions between loci. Finally, users will continue to receive rapid and reliable support. ..
  3. LINKAGE ANALYSIS METHODS IN SCHIZOPHRENIA
    Jurg Ott; Fiscal Year: 2008
    ..Computer programs and methods obtained through this work will be made available to researchers. ..