C Ober

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. ncbi Association studies for asthma and atopic diseases: a comprehensive review of the literature
    Sabine Hoffjan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Respir Res 4:14. 2003
  2. ncbi Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy
    Joseph Donfack
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Respir Res 6:145. 2005
  3. ncbi The genetics of asthma and allergic disease: a 21st century perspective
    Carole Ober
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Immunol Rev 242:10-30. 2011
  4. ncbi CFTR mutations and reproductive outcomes in a population isolate
    Irene Gallego Romero
    Department of Human Genetics, The University of Chicago, 920 East 58th Street, CLSC 507C, Chicago, IL, 60637, USA
    Hum Genet 122:583-8. 2008
  5. ncbi Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function
    Carole Ober
    University of Chicago, Chicago, IL 60637, USA
    N Engl J Med 358:1682-91. 2008
  6. ncbi The genetic dissection of complex traits in a founder population
    C Ober
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 69:1068-79. 2001
  7. ncbi The miscarriage-associated HLA-G -725G allele influences transcription rates in JEG-3 cells
    C Ober
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Hum Reprod 21:1743-8. 2006
  8. ncbi Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q
    Carole Ober
    Department of Human Genetics, University of Chicago, Chicago, IL, USA
    J Lipid Res 50:798-806. 2009
  9. ncbi Variation in the HLA-G promoter region influences miscarriage rates
    Carole Ober
    Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 72:1425-35. 2003
  10. ncbi Susceptibility genes in asthma and allergy
    C Ober
    Department of Human Genetics, University of Chicago, 940 E 58th Street, Chicago, IL 60637, USA
    Curr Allergy Asthma Rep 1:174-9. 2001

Collaborators

Detail Information

Publications100

  1. ncbi Association studies for asthma and atopic diseases: a comprehensive review of the literature
    Sabine Hoffjan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Respir Res 4:14. 2003
    ..These results suggest the potential for a great amount of heterogeneity underlying asthma. However, many of these studies are methodologically limited and their interpretation hampered by small sample sizes...
  2. ncbi Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy
    Joseph Donfack
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Respir Res 6:145. 2005
    ..Evolutionarily conserved sequences likely have biological function...
  3. ncbi The genetics of asthma and allergic disease: a 21st century perspective
    Carole Ober
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Immunol Rev 242:10-30. 2011
    ..Ongoing studies will continue to broaden our understanding of asthma and allergy and unravel the mechanisms for the development of these complex traits...
  4. ncbi CFTR mutations and reproductive outcomes in a population isolate
    Irene Gallego Romero
    Department of Human Genetics, The University of Chicago, 920 East 58th Street, CLSC 507C, Chicago, IL, 60637, USA
    Hum Genet 122:583-8. 2008
    ....
  5. ncbi Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function
    Carole Ober
    University of Chicago, Chicago, IL 60637, USA
    N Engl J Med 358:1682-91. 2008
    ..We hypothesized that single-nucleotide polymorphisms (SNPs) that affect YKL-40 levels also influence asthma status and lung function...
  6. ncbi The genetic dissection of complex traits in a founder population
    C Ober
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 69:1068-79. 2001
    ..However, even in this young founder population that has extensive linkage disequilibrium, map densities <<5 cM may be required to detect all major QTLs...
  7. ncbi The miscarriage-associated HLA-G -725G allele influences transcription rates in JEG-3 cells
    C Ober
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Hum Reprod 21:1743-8. 2006
    ..In this study, the transcription levels of different HLA-G promoter haplotypes were examined to determine whether the miscarriage-associated -725G allele influences transcription...
  8. ncbi Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q
    Carole Ober
    Department of Human Genetics, University of Chicago, Chicago, IL, USA
    J Lipid Res 50:798-806. 2009
    ..3 x 10(-12) and 0.024, respectively), also independent of kringle IV number. This study suggests a complex genetic architecture of Lp(a) levels that may involve multiple loci on chromosome 6q26-q27...
  9. ncbi Variation in the HLA-G promoter region influences miscarriage rates
    Carole Ober
    Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 72:1425-35. 2003
    ....
  10. ncbi Susceptibility genes in asthma and allergy
    C Ober
    Department of Human Genetics, University of Chicago, 940 E 58th Street, Chicago, IL 60637, USA
    Curr Allergy Asthma Rep 1:174-9. 2001
    ..Ongoing studies are aimed at identifying the specific gene or genes in these regions that confer susceptibility to asthma or atopy...
  11. ncbi The chitinase and chitinase-like proteins: a review of genetic and functional studies in asthma and immune-mediated diseases
    Carole Ober
    Department of Human Genetics, The University of Chicago, Illinois 60636, USA
    Curr Opin Allergy Clin Immunol 9:401-8. 2009
    ....
  12. ncbi Rethinking genetic models of asthma: the role of environmental modifiers
    Carole Ober
    Department of Human Genetics, 920 East 58 th Street, The University of Chicago, Chicago, Illinois 60637, USA
    Curr Opin Immunol 17:670-8. 2005
    ..We define 'environment' broadly to include the in utero environment, maternal affection status and sex, and propose that epigenetic mechanisms are the link between our genes and our environment...
  13. ncbi Perspectives on the past decade of asthma genetics
    Carole Ober
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637 1463, USA
    J Allergy Clin Immunol 116:274-8. 2005
    ..As a result, many important associations might have been missed. Recent studies demonstrate not only that such interactions exist but also that the relationship between genotype and phenotype is more complex than previously thought...
  14. ncbi Sex-specific genetic architecture of asthma-associated quantitative trait loci in a founder population
    Carole Ober
    Department of Human Genetics, The University of Chicago, 920 E 58th Street, Chicago, IL 60637, USA
    Curr Allergy Asthma Rep 6:241-6. 2006
    ....
  15. ncbi Asthma genetics 2006: the long and winding road to gene discovery
    C Ober
    Department of Human Genetics, The University of Chicago, Chicago, IL 60615, USA
    Genes Immun 7:95-100. 2006
    ..Here, we discuss the methods that have been used to identify susceptibility genes for common diseases and overview the status of asthma genetic research. Finally, current challenges and future directions are discussed...
  16. ncbi Gene-environment interactions in human disease: nuisance or opportunity?
    Carole Ober
    Department of Human Genetics, 920 E 58th Street, The University of Chicago, Chicago, IL 60637, USA
    Trends Genet 27:107-15. 2011
    ..Lastly, we propose avenues for future studies to find gene-environment interactions...
  17. ncbi Sex-specific genetic architecture of human disease
    Carole Ober
    Department of Human Genetics, 920 East 58th Street, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Rev Genet 9:911-22. 2008
    ..Genetic studies that ignore sex-specific effects in their design and interpretation could fail to identify a significant proportion of the genes that contribute to risk for complex diseases...
  18. ncbi HLA-G: an asthma gene on chromosome 6p
    Carole Ober
    Department of Human Genetics and Obstetrics and Gynecology, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA
    Immunol Allergy Clin North Am 25:669-79. 2005
    ..Studies are underway to understand the mechanism for this interaction and the role of this gene in the pathogenesis of asthma...
  19. ncbi Estimation of variance components of quantitative traits in inbred populations
    M Abney
    Department of Human Genetics, University of Chicago, 924 East 57th Street, R 102, Chicago, IL 60637, USA
    Am J Hum Genet 66:629-50. 2000
    ..We discuss the implications for mapping and heritability estimation by use of variance components in inbred populations...
  20. ncbi Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma
    C Ober
    Department of Human Genetics, University of Chicago, 924 East 57th Street, Chicago, IL 60637, USA
    Hum Mol Genet 7:1393-8. 1998
    ....
  21. ncbi A second-generation genomewide screen for asthma-susceptibility alleles in a founder population
    C Ober
    Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 67:1154-62. 2000
    ....
  22. ncbi Population genetic studies of HLA-E: evidence for selection
    C Grimsley
    Committee on Evolutionary Biology, University of Chicago, IL 60637, USA
    Hum Immunol 52:33-40. 1997
    ..513, p = 0.063 and F = 0.508, p = 0.053). These data suggest that this polymorphism arose before the expansion of Homo sapiens and has been maintained in diverse populations by stabilizing selection...
  23. ncbi Multilocus linkage disequilibrium mapping by the decay of haplotype sharing with samples of related individuals
    Jian Zhang
    Department of Statistics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Epidemiol 29:128-40. 2005
    ..We apply the method to fine-mapping of a susceptibility locus for bronchial hyperresponsiveness (BHR) in the Hutterites. The results confirm the importance of taking into account the relatedness of individuals in LD mapping...
  24. ncbi Broad and narrow heritabilities of quantitative traits in a founder population
    M Abney
    Departments of Human Genetics and Statistics, University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 68:1302-7. 2001
    ..To our knowledge, this is the first study to report an estimate of heritability for serotonin and to detect a dominance variance for LDL, FFM, and SBP...
  25. ncbi HLA-G1 protein expression is not essential for fetal survival
    C Ober
    Center for Medical Genetics, Department of Obstetrics and Gynecology, The University of Chicago, IL 60637, USA
    Placenta 19:127-32. 1998
    ..These data indicate that expression of HLA-G1 protein is not essential for fetal survival...
  26. ncbi HLA-H: a pseudogene with increased variation due to balancing selection at neighboring loci
    C Grimsley
    Department of Human Genetics, University of Chicago, USA
    Mol Biol Evol 15:1581-8. 1998
    ..Instead, these data suggest that HLA-H has increased variation as a result of balancing selection acting on nearby loci such as HLA-A...
  27. ncbi Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations
    C Ober
    Department of Human Genetics, University of Chicago, Chicago, IL 60636, USA
    Am J Hum Genet 66:517-26. 2000
    ..Overall, these data suggest that the IL4RA gene is an atopy- and asthma-susceptibility locus but that variation outside the coding region of the gene influences susceptibility...
  28. ncbi Variation in the type I interferon gene cluster on 9p21 influences susceptibility to asthma and atopy
    A Chan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60636, USA
    Genes Immun 7:169-78. 2006
    ..These results suggest that variation in multiple genes in the type I IFN cluster on 9p22 contribute to asthma and atopy susceptibility, and that not all genes contribute equally to all phenotypes...
  29. ncbi HLA-G polymorphisms: neutral evolution or novel function?
    C Ober
    Department of Obstetrics and Gynecology, University of Chicago, IL 60637, USA
    J Reprod Immunol 36:1-21. 1997
    ..In this paper we review some of the novel features of HLA-G, with particular reference to polymorphic variants in the gene, and discuss the implications of these features for the potential function and evolutionary history of HLA-G...
  30. ncbi Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL, USA
    Eur J Hum Genet 14:923-31. 2006
    ..010 and 0.015). Lastly, we show that a coding variant of ITGB3 is associated with autism susceptibility in a large multiplex sample (P = 0.00082), and that this variation has different effects in males and females (P = 0.0018)...
  31. ncbi Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Hum Genet 117:81-7. 2005
    ..Our results suggest that variation in ITGB3 in addition to Leu33Pro could contribute to susceptibility to CVD and serotonin in a sex-specific manner...
  32. ncbi A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene
    X Wu
    Department of Human Genetics, and Department of Statistics, The University of Chicago, Chicago, IL, USA
    Genes Immun 2:128-34. 2001
    ..We propose a model in which past selection by pathogens contributed to the increasing prevalence of atopic disorders in Western societies...
  33. ncbi Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations
    Lauren A Weiss
    Department of Human Genetics, University of Chicago, 920 East 58th Street, CSLC 507C, Chicago, IL 60637, USA
    Am J Respir Crit Care Med 172:67-73. 2005
    ..We therefore evaluated the integrin-beta3 gene (ITGB3), an integrin gene within an asthma linkage peak on chromosome 17, as a candidate for susceptibility to asthma- and atopy-related phenotypes...
  34. ncbi Are common disease susceptibility alleles the same in outbred and founder populations?
    Dina L Newman
    Department of Human Genetics, University of Chicago, Chicago, IL, USA
    Eur J Hum Genet 12:584-90. 2004
    ..05), with five loci remaining significant after adjusting for multiple comparisons. These data indicate that this founder population is informative and offers considerable advantages for genetic studies of common complex diseases...
  35. ncbi Functional variants of the sphingosine-1-phosphate receptor 1 gene associate with asthma susceptibility
    Xiaoguang Sun
    Section of Pulmonary and Critical Care Medicine, Department of Medicine, University of Chicago, Chicago, Ill, USA
    J Allergy Clin Immunol 126:241-9, 249.e1-3. 2010
    ..Increased permeability of the microvasculature is a feature of asthma, and the sphingosine-1-phosphate receptor (S1PR1) is an essential participant regulating lung vascular integrity and responses to lung inflammation...
  36. ncbi Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21
    Dan Nicolae
    Department of Statistics, The University of Chicago, Chicago, IL, USA
    Am J Hum Genet 76:349-57. 2005
    ....
  37. ncbi Population genetic studies of HLA-G: allele frequencies and linkage disequilibrium with HLA-A1
    C Ober
    University of Chicago, Department of Obstetrics and Gynecology, IL 60637, USA
    J Reprod Immunol 32:111-23. 1996
    ..The levels and sites of polymorphism in HLA-G suggest that this gene had a unique evolutionary history and may perform nonclassical functions at the maternal-fetal interface...
  38. ncbi HLA and mate choice in humans
    C Ober
    Center for Medical Genetics, Department of Obstetrics and Gynecology, The University of Chicago, IL 60637, USA
    Am J Hum Genet 61:497-504. 1997
    ..018). These results are consistent with the conclusion that Hutterite mate choice is influenced by HLA haplotypes, with an avoidance of spouses with haplotypes that are the same as one's own...
  39. ncbi HLA-G genotypes and pregnancy outcome in couples with unexplained recurrent miscarriage
    C L Aldrich
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Mol Hum Reprod 7:1167-72. 2001
    ..The significant genotype-specific risk in this population suggests that allelic variation in the alpha-2 domain of the HLA-G1 isoforms contributes to recurrent miscarriage...
  40. ncbi Polymorphisms in the HLA-linked olfactory receptor genes in the Hutterites
    A C Eklund
    Department of Human Genetics, University of Chicago, IL 60637, USA
    Hum Immunol 61:711-7. 2000
    ..This level of variation in the FAT11 gene alone may not be sufficient to contribute to the observed patterns of mate choice in the Hutterites and to individual variation in odor preferences...
  41. ncbi ITGB3 shows genetic and expression interaction with SLC6A4
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Genet 120:93-100. 2006
    ..012) and SLC6A4 (P=0.008) in unrelated CEPH individuals. We also show preliminary evidence that genotypes at the ITGB3 and SLC6A4 loci may interact to affect autism susceptibility (P=0.033)...
  42. ncbi A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans
    Carlos Flores
    Department of Medicine, University of Chicago, Chicago, IL, USA
    Genet Epidemiol 31:296-305. 2007
    ..This finding also offers a possible genetic explanation for some of the more severe asthma phenotype observed in African American asthmatics...
  43. ncbi A common cortactin gene variation confers differential susceptibility to severe asthma
    Shwu Fan Ma
    Department of Medicine, University of Chicago, Chicago, Illinois, USA
    Genet Epidemiol 32:757-66. 2008
    ....
  44. ncbi Linkage disequilibrium and age estimates of a deletion polymorphism (1597DeltaC) in HLA-G suggest non-neutral evolution
    Carrie Aldrich
    Department of Human Genetics, The University of Chicago, IL, USA
    Hum Immunol 63:405-12. 2002
    ..These data suggest that these two polymorphisms in the HLA-G gene have had different evolutionary histories. We propose that natural selection has acted on the 1597DeltaC allele...
  45. ncbi Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility
    Gabe Haller
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    J Allergy Clin Immunol 124:1204-9.e9. 2009
    ..Common genetic variations in the IL4 gene have been associated with asthma and atopy in European and Asian populations, but not in African Americans...
  46. ncbi Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13
    D K Nolan
    Committee on Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 146:1414-22. 2008
    ..However, no mutations in the coding region of this gene are present in the family we describe. These results suggest that another gene causing autosomal recessive nonsyndromic MR (ARNSMR) is located within this genomic region...
  47. ncbi Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy
    Sabine Hoffjan
    Department of Human Genetics, University of Chicago, IL 60637, USA
    J Allergy Clin Immunol 113:511-8. 2004
    ..Although candidate gene studies have identified many potential asthma susceptibility genes in adult populations, few have studied associations with immune phenotypes in the first year that might be early clinical markers of asthma...
  48. ncbi Sequence variation in the promoter region of the cholinergic receptor muscarinic 3 gene and asthma and atopy
    Joseph Donfack
    Department of Human Genetics, The University of Chicago, Chicago, Ill 60637, USA
    J Allergy Clin Immunol 111:527-32. 2003
    ..They are important in the development of airway hyperresponsiveness. In the lung the M3 receptor, encoded by the cholinergic receptor muscarinic 3 gene, is present in airway smooth muscle and mediates smooth muscle contraction...
  49. ncbi Cutting edge: polymorphisms in the ICOS promoter region are associated with allergic sensitization and Th2 cytokine production
    Rebecca A Shilling
    Section of Pulmonary and Critical Care Medicine, Department of Medicine, The University of Chicago, IL 60637, USA
    J Immunol 175:2061-5. 2005
    ..Overall, these data demonstrate that ICOS is a susceptibility gene for allergic sensitization, perhaps through the promotion of Th2 differentiation...
  50. ncbi Heritability estimation of sex-specific effects on human quantitative traits
    Lin Pan
    Department of Human Genetics, The University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA
    Genet Epidemiol 31:338-47. 2007
    ..Our analyses demonstrate that sex-specific genetic effects may not only be common in human quantitative traits, but also that the X chromosome both plays a large role in these effects and has a variable influence between the sexes...
  51. ncbi Ethnic differences in asthma and associated phenotypes: collaborative study on the genetics of asthma
    L A Lester
    University of Chicago, Ill, USA
    J Allergy Clin Immunol 108:357-62. 2001
    ....
  52. ncbi A genomewide screen for chronic rhinosinusitis genes identifies a locus on chromosome 7q
    Jayant M Pinto
    Section of Otolaryngology Head and Neck Surgery, Department of Surgery, The University of Chicago, Chicago, Illinois 60637, USA
    Laryngoscope 118:2067-72. 2008
    ..Chronic rhinosinusitis (CRS) is an important public health problem with substantial impact on patient quality of life and health care costs. We hypothesized that genetic variation may be one factor that affects this disease...
  53. ncbi Integrin beta 3 genotype influences asthma and allergy phenotypes in the first 6 years of life
    Emma E Thompson
    Department of Human Genetics, University of Chicago, Chicago, Ill, USA
    J Allergy Clin Immunol 119:1423-9. 2007
    ..Previous work from our laboratory reported associations between single nucleotide polymorphisms (SNPs) in ITGB3 and asthma and allergic sensitization in 4 populations...
  54. ncbi Sequence variations at the human leukocyte antigen-linked olfactory receptor cluster do not influence female preferences for male odors
    Emma E Thompson
    Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA
    Hum Immunol 71:100-3. 2010
    ..Our results indicate that OR alleles in the genes surveyed are not in linkage disequilibrium with HLA variation and do not explain the previous findings of HLA-associated odor preference...
  55. ncbi High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans
    Graham Coop
    Department of Human Genetics, University of Chicago, 920 East 58th Street, Cummings Life Science Center, Chicago, IL 60637, USA
    Science 319:1395-8. 2008
    ..Notably, however, we found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots...
  56. ncbi Shades of gray: a comparison of linkage disequilibrium between Hutterites and Europeans
    Emma E Thompson
    Department of Human Genetics, The University of Chicago, Illinois, USA
    Genet Epidemiol 34:133-9. 2010
    ....
  57. ncbi The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate
    Gülüm Kosova
    University of Chicago, Illinois, United States of America
    PLoS Genet 6:e1000974. 2010
    ..003, consistent with a selective sweep outside of Africa. The fertility advantage conferred by Val470 relative to Met470 may provide a selective mechanism for these population genetic observations...
  58. ncbi Allele-specific targeting of microRNAs to HLA-G and risk of asthma
    Zheng Tan
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 81:829-34. 2007
    ....
  59. ncbi A genome-wide screen for hyposmia susceptibility Loci
    Jayant M Pinto
    Section of Otolaryngology Head and Neck Surgery, The University of Chicago, 5841 S Maryland Avenue, MC 1035, Chicago, IL 60637, USA
    Chem Senses 33:319-29. 2008
    ..0013). Although this signal meets the criteria for suggestive linkage only and will require replication, these results offer the strongest data to date on the effects of genetic variation on olfactory dysfunction...
  60. ncbi Inverted duplications on acentric markers: mechanism of formation
    Andrea E Murmann
    Department of Human Genetics, The University of Chicago, 5841 S Maryland Avenue, Room L 155, MC0077, Chicago, IL 60637, USA
    Hum Mol Genet 18:2241-56. 2009
    ..Likely coinciding with the neocentromere formation, this stabilized fragment is duplicated during an early mitotic event, insuring the marker's survival during cell division and its presence in all cells...
  61. ncbi Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci
    Thorsten Kurz
    Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA
    J Allergy Clin Immunol 118:396-402. 2006
    ..CLINICAL IMPLICATIONS: Identifying asthma or BHR genes could lead to novel therapeutic approaches...
  62. ncbi Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
    Minal Caliskan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 20:1285-9. 2011
    ..Our results reveal the value of massively parallel sequencing for identification of novel disease genes that could not be found using traditional approaches and identifies only the seventh causal mutation for autosomal recessive NSMR...
  63. ncbi Best linear unbiased allele-frequency estimation in complex pedigrees
    Mary Sara McPeek
    Department of Statistics, University of Chicago, 5734 S University Avenue, Chicago, Illinois 60637, USA
    Biometrics 60:359-67. 2004
    ..We apply our method to allele-frequency estimation in a Hutterite data set...
  64. ncbi The sex-specific genetic architecture of quantitative traits in humans
    Lauren A Weiss
    1] Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Genet 38:218-22. 2006
    ..In this study, we evaluated sex-specific heritability and genome-wide linkages for 17 quantitative traits in the Hutterites. The results of this study could have important implications for mapping complex trait genes...
  65. ncbi Evidence for extensive transmission distortion in the human genome
    Sebastian Zollner
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 74:62-72. 2004
    ..Finally, our results also have implications for mapping disease genes and for the genetics of fertility...
  66. ncbi Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus
    Catherine Bourgain
    Department of Human Genetics, University of Chicago, Chicago, IL, USA
    Am J Hum Genet 73:612-26. 2003
    ..10-6) between atopy and an amino acid polymorphism in the P-selectin gene, detected with the QLS test and also, but less significantly (P=.0014), with the transmission/disequilibrium test...
  67. ncbi Gene-environment interaction effects on the development of immune responses in the 1st year of life
    Sabine Hoffjan
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 76:696-704. 2005
    ....
  68. ncbi Inheritance of most X-linked traits is not dominant or recessive, just X-linked
    William B Dobyns
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet A 129:136-43. 2004
    ..We recommend that use of the terms X-linked recessive and dominant be discontinued, and that all such disorders be simply described as following "X-linked" inheritance...
  69. ncbi Human body scents: conscious perceptions and biological effects
    Martha K McClintock
    Department of Psychology, University of Chicago, 5730 Woodlawn Ave, Chicago, IL 60637, USA
    Chem Senses 30:i135-7. 2005
  70. ncbi Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree
    Dina L Newman
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 12:137-44. 2003
    ..005) and at IFNA on chromosome 9p21 (locus P=4.3 x 10(-5), genome-wide P=0.024). In each case, homozygosity at the locus is associated with low TG levels, suggesting that alleles at nearby loci may protect against high TG levels...
  71. ncbi Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites
    Mark Abney
    Department of Human Genetics, University of Chicago, 920 East 85th Street, Chicago, IL 60637, USA
    Am J Hum Genet 70:920-34. 2002
    ..We apply our methods to a genome screen for fasting insulin level in the Hutterites. We detect significant genomewide linkage on chromosome 19 and suggestive evidence of QTLs on chromosomes 1 and 16...
  72. ncbi Sex differences in the genetic basis of morning serum cortisol levels: genome-wide screen identifies two novel loci specific to women
    Lianne M Kurina
    Department of Health Studies, The University of Chicago, 5841 South Maryland Avenue, MC2007, Chicago, Illinois 60637, USA
    J Clin Endocrinol Metab 90:4747-52. 2005
    ..Relatively little is known about the influence of specific genes on cortisol levels, particularly morning cortisol levels...
  73. ncbi Evidence of balancing selection at the HLA-G promoter region
    Zheng Tan
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Hum Mol Genet 14:3619-28. 2005
    ..We suggest that the mechanism for this selection is related to the highly regulated expression pattern of HLA-G and that high- and low-expressing promoters may be favored under temporally and/or spatially varying selective pressures...
  74. ncbi Three polymorphisms in the 3' UTR of the TRAIL (TNF-related apoptosis-inducing ligand) gene
    H L Gray
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Genes Immun 2:469-70. 2001
    ..Over 50 individuals from each of two populations, Caucasian and African Americans, were genotyped for these three polymorphisms and allele frequencies were determined...
  75. ncbi Inbreeding effects on fertility in humans: evidence for reproductive compensation
    C Ober
    Departments of Human Genetics and Obstetrics and Gynecology, The University of Chicago, IL 60637, USA
    Am J Hum Genet 64:225-31. 1999
    ..This recent reproductive strategy would facilitate the maintenance of recessive alleles and contribute to an overall decline in fertility in the population...
  76. ncbi Contributing factors to the pathobiology. The genetics of asthma
    C Ober
    Department of Human Genetics, University of Chicago, Illinois, USA
    Clin Chest Med 21:245-61. 2000
    ....
  77. ncbi Sex-specific genetic architecture of whole blood serotonin levels
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, 920 East 58th Street, Chicago, IL 60637, USA
    Am J Hum Genet 76:33-41. 2005
    ..This analysis is consistent with heritable sexual dimorphism in whole blood serotonin levels resulting from the effects of a combination of sex-specific and sex-independent loci...
  78. ncbi Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin
    Lauren A Weiss
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Eur J Hum Genet 12:949-54. 2004
    ..8 x 10(-5)). This variant explained the evidence for linkage in this region when included as a covariate in the linkage analysis (change in LOD from 1.87 to 0.16), indicating that ITGB3 may be an important serotonin QTL...
  79. ncbi Expression and cytogenetic localization of the human SM22 gene (TAGLN)
    B Camoretti-Mercado
    Department of Medicine, University of Chicago, Illinois 60637, USA
    Genomics 49:452-7. 1998
    ..In addition, human SM22 promoter activity increased by two- to threefold upon serum stimulation of nonmuscle cells...
  80. ncbi Genetic studies of stuttering in a founder population
    Jacqueline K Wittke Thompson
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, United States
    J Fluency Disord 32:33-50. 2007
    ....
  81. ncbi Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness
    Anna Pluzhnikov
    Department of Medicine, University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 81:165-9. 2007
    ..23 between couples and their daughters; empirical P<1x10-6 and P=.00059, respectively). We interpret these results as indicating a significant genetic component to reproductive fitness in the Hutterites...
  82. ncbi Paternally inherited HLA alleles are associated with women's choice of male odor
    Suma Jacob
    Institute for Mind and Biology and Department of Psychology, 5730 South Woodlawn Avenue, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Genet 30:175-9. 2002
    ..Our data indicate that paternally inherited HLA-associated odors influence odor preference and may serve as social cues...
  83. ncbi Exome sequencing and the genetics of intellectual disability
    S Topper
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Clin Genet 80:117-26. 2011
    ....
  84. ncbi Broad-scale recombination patterns underlying proper disjunction in humans
    Adi Fledel-Alon
    Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America
    PLoS Genet 5:e1000658. 2009
    ..These findings point to multiple mechanisms that shape the distribution of crossovers, influencing proper disjunction in humans...
  85. ncbi Colloquium papers: Heritability of reproductive fitness traits in a human population
    Gülüm Kosova
    Department of Human Genetics and Obstetrics, University of Chicago, Chicago, IL 60637, USA
    Proc Natl Acad Sci U S A 107:1772-8. 2010
    ..We therefore propose that reproductive traits should be amenable to genetic mapping studies, and the results we present here will facilitate the search for the novel genes influencing natural fertility in humans...
  86. ncbi The role of environmental tobacco smoke in genetic susceptibility to asthma
    Thorsten Kurz
    Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA
    Curr Opin Allergy Clin Immunol 4:335-9. 2004
    ..By stratifying samples by environmental tobacco smoke exposure, associations or linkages with specific polymorphisms or chromosomal region may be revealed, as illustrated in the studies discussed in this review...
  87. ncbi Getting from genes to function in lung disease: a National Heart, Lung, and Blood Institute workshop report
    Carole Ober
    Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA
    Am J Respir Crit Care Med 182:732-7. 2010
    ..Last, it was agreed that future research on lung diseases should integrate approaches across "-omic" technologies and to include ethnically/racially diverse populations in human studies of lung disease whenever possible...
  88. ncbi Present status on the genetic studies of asthma
    Sabine Hoffjan
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Curr Opin Immunol 14:709-17. 2002
    ..In addition, many candidate genes have been associated with asthma phenotypes, such as the genes in the IL-4/IL-13 pathway...
  89. ncbi Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure
    Susan Colilla
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    J Allergy Clin Immunol 111:840-6. 2003
    ..Asthma, a common and chronic disease of the airways, has a multifactorial cause involving both genetic and environmental factors. As a result, mapping genes that influence asthma susceptibility has been challenging...
  90. ncbi HLA-G and immune tolerance in pregnancy
    Joan S Hunt
    Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas 66160 7400, USA
    FASEB J 19:681-93. 2005
    ....
  91. ncbi A genome-wide search for quantitative trait loci contributing to variation in seasonal pollen reactivity
    Malcolm N Blumenthal
    Department of Medicine, University of Minnesota, Minneapolis, MN, USA
    J Allergy Clin Immunol 117:79-85. 2006
    ..CONCLUSION: These results suggest both substantial genetic overlap and extensive heterogeneity in the genetic basis for the allergic response to seasonal allergens...
  92. ncbi A common variant associated with prostate cancer in European and African populations
    Laufey T Amundadottir
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 38:652-8. 2006
    ..This leads to a greater estimated PAR (16%) that may contribute to higher incidence of prostate cancer in African American men than in men of European ancestry...
  93. ncbi Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
    Julius Gudmundsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nat Genet 40:281-3. 2008
    ..23 and 1.15; P = 3.9 x 10(-13) and 7.7 x 10(-9), respectively). The 2p15 variant shows a significantly stronger association with more aggressive, rather than less aggressive, forms of the disease...
  94. ncbi Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
    Julius Gudmundsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:631-7. 2007
    ..The newly identified variant shows a stronger association with affected individuals who have an earlier age at diagnosis...
  95. ncbi A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma
    Malcolm N Blumenthal
    Department of Medicine, University of Minnesota, MMC 434 Mayo, 420 Delaware SE, Minneapolis, MN 55455, USA
    Hum Genet 114:157-64. 2004
    ..65), 8p (D8S1113, lod=1.60), 12p (D12S372, lod=1.54) and 14q (D14S749, lod=1.70). These results suggest that several regions may harbor genes contributing to the risk for atopy and these may interact with one another in a complex manner...
  96. ncbi Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
    Julius Gudmundsson
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 39:977-83. 2007
    ..Results from eight case-control groups, including one West African and one Chinese, demonstrate that this variant confers protection against type 2 diabetes...
  97. ncbi Effects of dog ownership and genotype on immune development and atopy in infancy
    James E Gern
    Department of Pediatrics, University of Wisconsin-Madison, Madison, Wis, USA
    J Allergy Clin Immunol 113:307-14. 2004
    ..These findings suggest that postnatal exposure to dogs can influence immune development in a genotype-specific fashion and thereby attenuate the development of atopy in at-risk children...
  98. ncbi Does HLA-dependent chimerism underlie the pathogenesis of juvenile dermatomyositis?
    Ann M Reed
    Division of Rheumatology, Department of Medicine, Mayo Clinic and Medical School, Rochester, MN 55905, USA
    J Immunol 172:5041-6. 2004
    ..These combined data indicate that chimeric cells play a direct role in the JDM disease process and that the mother's HLA genotype facilitates the transfer and/or persistence of maternal cells in the fetal circulation...
  99. ncbi Pregnancy outcome in recurrent miscarriage patients with skewed X chromosome inactivation
    Amy E Sullivan
    Department of Obstetrics and Gynecology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Obstet Gynecol 101:1236-42. 2003
    ..To analyze X inactivation in women with recurrent miscarriage to estimate whether skewed X inactivation is associated with recurrent miscarriage and whether it predicts next pregnancy outcomes...
  100. ncbi Testing for Hardy-Weinberg equilibrium in samples with related individuals
    Catherine Bourgain
    INSERM U535, 94817 Villejuif Cedex, France
    Genetics 168:2349-61. 2004
    ..Finally, the method is used to test a set of 143 biallelic markers spanning 82 genes in this latter population...