Heather J Cordell

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. pmc Multilocus linkage tests based on affected relative pairs
    H J Cordell
    Department of Medical Genetics, Wellcome Trust Centre for the Study of Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge, CB2 2XY, England, United Kingdom
    Am J Hum Genet 66:1273-86. 2000
  2. ncbi request reprint Properties of case/pseudocontrol analysis for genetic association studies: Effects of recombination, ascertainment, and multiple affected offspring
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 26:186-205. 2004
  3. ncbi request reprint Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 26:167-85. 2004
  4. pmc Linkage analysis of a derived glucose phenotype in the Genetic Analysis Workshop 13 simulated data using a variety of Haseman-Elston based regression methods
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Wellcome Trust MRC Building, Addenbrookes Hospital, United Kingdom
    BMC Genet 4:S6. 2003
  5. ncbi request reprint Genetic association studies
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrookes Hospital, UK
    Lancet 366:1121-31. 2005
  6. pmc Bias toward the null hypothesis in model-free linkage analysis is highly dependent on the test statistic used
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 74:1294-302. 2004
  7. ncbi request reprint Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    Hum Mol Genet 11:2463-8. 2002
  8. ncbi request reprint Estimation and testing of genotype and haplotype effects in case-control studies: comparison of weighted regression and multiple imputation procedures
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, UK
    Genet Epidemiol 30:259-75. 2006
  9. ncbi request reprint Sample size requirements to control for stochastic variation in magnitude and location of allele-sharing linkage statistics in affected sibling pairs
    H J Cordell
    Department of Medical Genetics, University of Cambridge, UK
    Ann Hum Genet 65:491-502. 2001
  10. ncbi request reprint Summary of contributions to GAW Group 5: linkage mapping methods, Problem 2
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 29:S35-40. 2005

Detail Information

Publications55

  1. pmc Multilocus linkage tests based on affected relative pairs
    H J Cordell
    Department of Medical Genetics, Wellcome Trust Centre for the Study of Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge, CB2 2XY, England, United Kingdom
    Am J Hum Genet 66:1273-86. 2000
    ..We evaluate the properties of our method by use of simulated data and present an application to real data from families with insulin-dependent diabetes mellitus...
  2. ncbi request reprint Properties of case/pseudocontrol analysis for genetic association studies: Effects of recombination, ascertainment, and multiple affected offspring
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 26:186-205. 2004
    ..These results suggest that care should be taken in both the interpretation and application of parameter estimates obtained from family-based genetic association studies...
  3. ncbi request reprint Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 26:167-85. 2004
    ..Simulations suggest that there is limited power to distinguish between parent-of-origin effects and effects due to interaction between genotypes of mother and child...
  4. pmc Linkage analysis of a derived glucose phenotype in the Genetic Analysis Workshop 13 simulated data using a variety of Haseman-Elston based regression methods
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Wellcome Trust MRC Building, Addenbrookes Hospital, United Kingdom
    BMC Genet 4:S6. 2003
    ..All methods performed well, however, when applied to new simulated data in which the true genetic effects were allowed to explain a greater proportion of the overall variance...
  5. ncbi request reprint Genetic association studies
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrookes Hospital, UK
    Lancet 366:1121-31. 2005
    ..As with other types of genetic epidemiological study, issues of design, statistical analysis, and interpretation are very important...
  6. pmc Bias toward the null hypothesis in model-free linkage analysis is highly dependent on the test statistic used
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 74:1294-302. 2004
    ....
  7. ncbi request reprint Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans
    Heather J Cordell
    University of Cambridge, Department of Medical Genetics, JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    Hum Mol Genet 11:2463-8. 2002
    ..A brief survey of some methods for detecting epistasis in humans is given. We note that the degree to which statistical tests of epistasis can elucidate underlying biological interactions may be more limited than previously assumed...
  8. ncbi request reprint Estimation and testing of genotype and haplotype effects in case-control studies: comparison of weighted regression and multiple imputation procedures
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge, UK
    Genet Epidemiol 30:259-75. 2006
    ..Overall, multiple imputation was easiest approach to implement in standard statistical software and to extend to more complex models such as those that include gene-gene or gene-environment interactions...
  9. ncbi request reprint Sample size requirements to control for stochastic variation in magnitude and location of allele-sharing linkage statistics in affected sibling pairs
    H J Cordell
    Department of Medical Genetics, University of Cambridge, UK
    Ann Hum Genet 65:491-502. 2001
    ..In particular, collection of larger data sets and/or analysis strategies such as conditioning or narrowing the phenotype definition, in order to increase the relative effect size, may be required before embarking on positional cloning...
  10. ncbi request reprint Summary of contributions to GAW Group 5: linkage mapping methods, Problem 2
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 29:S35-40. 2005
    ..The power to detect modifying loci D5 and D6 appeared to be lower. Some gain in power/significance was found from making use of subphenotypes and meta-analytic approaches...
  11. pmc Statistical modeling of interlocus interactions in a complex disease: rejection of the multiplicative model of epistasis in type 1 diabetes
    H J Cordell
    Department of Medical Genetics, University of Cambridge, Wellcome Trust Centre for Molecular Mechanisms in Disease, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2XY, United Kingdom
    Genetics 158:357-67. 2001
    ..The degree to which statistical analyses can elucidate underlying biologic mechanisms may be limited and may require prior knowledge of the underlying etiology...
  12. pmc A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
    Am J Hum Genet 70:124-41. 2002
    ..The methods are illustrated using nuclear-family data to evaluate the contribution of loci in the HLA region to the development of type 1 diabetes...
  13. pmc Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene
    Rebecca C J Twells
    JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 2XY, UK
    Genome Res 13:845-55. 2003
    ..The identification of hot spots in between these LD blocks provides additional evidence that LD blocks are separated by areas of higher recombination...
  14. pmc Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis
    Jimmy Z Liu
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Nat Genet 44:1137-41. 2012
    ..8) with the most associated variant. This study shows how data from dense fine-mapping arrays coupled with functional genomic data can be used to identify candidate causal variants for functional follow-up...
  15. pmc Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans
    Clive J Petry
    Department of Paediatrics, University of Cambridge, Addenbrooke s Hospital Level 8, Box 116, Cambridge CB2 2QQ, UK
    BMC Genet 6:22. 2005
    ....
  16. ncbi request reprint Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants
    William Y S Wang
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 24:36-43. 2003
    ..Under alternative models, provided epistatic effects are minor, larger achievable sample sizes will provide sufficient power to map almost any disease gene that may have initially contributed to linkage...
  17. ncbi request reprint Approaches to the analysis of QTL data in mice, using the nonobese diabetic mouse as an example
    Heather J Cordell
    Department of Medical Genetics, University of Cambridge, UK
    Methods Mol Biol 195:165-98. 2002
  18. pmc Linkage analysis of GAW14 simulated data: comparison of multimarker, multipoint, and conditional approaches
    Mathew J Barber
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research CIMR, Wellcome Trust MRC Building, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    BMC Genet 6:S40. 2005
    ..The effect on power and type I error of different choices of weighting scheme (to account for different numbers of affected siblings) in the multimarker approach was examined...
  19. ncbi request reprint Comparison of population- and family-based methods for genetic association analysis in the presence of interacting loci
    Joanna M M Howson
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Genet Epidemiol 29:51-67. 2005
    ....
  20. ncbi request reprint Remapping the insulin gene/IDDM2 locus in type 1 diabetes
    Bryan J Barratt
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Diabetes 53:1884-9. 2004
    ....
  21. pmc Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis
    Michaela Fakiola
    Cambridge Institute for Medical Research, University of Cambridge School of Clinical Medicine, Addenbrooke s Hospital, Cambridge, UK
    Nat Genet 45:208-13. 2013
    ....
  22. pmc Exploring causality via identification of SNPs or haplotypes responsible for a linkage signal
    Joanna M Biernacka
    Department of Medical Genetics, University of Cambridge, UK
    Genet Epidemiol 31:727-40. 2007
    ..We study properties of the proposed methods by simulation and apply them to type 1 diabetes data for ASPs and their parents at candidate SNP and microsatellite marker loci in the Insulin (INS) gene region...
  23. pmc Quantitative trait association in parent offspring trios: Extension of case/pseudocontrol method and comparison of prospective and retrospective approaches
    Eleanor Wheeler
    The Wellcome Trust Sanger Institute, Cambridge, UK
    Genet Epidemiol 31:813-33. 2007
    ....
  24. ncbi request reprint Gamma regression improves Haseman-Elston and variance components linkage analysis for sib-pairs
    Mathew J Barber
    Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Genet Epidemiol 26:97-107. 2004
    ..68: 1198-1211) and is therefore more powerful than ordinary least squares, but has the added advantage of being robust to deviations from multivariate normality and provides (often overlooked) model-fit diagnostics for linkage analysis...
  25. ncbi request reprint A multimarker regression-based test of linkage for affected sib-pairs at two linked loci
    Mathew J Barber
    Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
    Genet Epidemiol 30:191-208. 2006
    ..03 to 0.002, using different methods) approximately 15 cM centromeric of the original localisation...
  26. pmc Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis
    Sarra E Jamieson
    Cambridge Institute for Medical Research and Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrookes Hospital, Cambridge, United Kingdom
    PLoS ONE 3:e2285. 2008
    ..Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute...
  27. ncbi request reprint Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
    Hironori Ueda
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust MRC Building, Cambridge, CB2 2XY, UK
    Nature 423:506-11. 2003
    ..Genetic mapping of variants conferring a small disease risk can identify pathways in complex disorders, as exemplified by our discovery of inherited, quantitative alterations of CTLA4 contributing to autoimmune tissue destruction...
  28. pmc Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan
    E Nancy Miller
    Cambridge Institute for Medical Research, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom
    PLoS Genet 3:e71. 2007
    ..These chance events in ethnically uniform African populations provide a powerful resource in the search for genes and mechanisms that regulate this complex disease...
  29. ncbi request reprint Perils and pitfalls of permutation tests for distinguishing the effects of neighbouring polymorphisms
    Joanna M Biernacka
    Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Cambridge, UK
    Genet Epidemiol 30:582-9. 2006
    ..2005], which does not rely on haplotyping, and results in correct type 1 errors and potentially high power when assumptions of random mating, Hardy-Weinberg Equilibrium, and multiplicative effects of disease alleles are satisfied...
  30. ncbi request reprint Linkage analysis of Genetic Analysis Workshop 12 simulated data based on affected individuals only
    H J Cordell
    Dept. of Medical Genetics, Wellcome Trust Centre for Molecular Mechanisms in Disease, Cambridge Institute for Medical Research, Addenbrookes Hospital, Cambridge CB2 2XY, UK
    Genet Epidemiol 21:S510-5. 2001
    ..Conditioning on the strongest initial linkage and reanalyzing using a variety of conditional methods did not improve the power for detection or help discriminate between true and false positive signals...
  31. ncbi request reprint Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes
    Rebecca C J Twells
    Department of Medical Genetics, JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust MRC Building, Addenbrooke s Hospital, Cambridge CB2 2XY, UK
    Hum Genet 113:99-105. 2003
    ..The continued search for the variants of the putative IDDM4 locus will greatly benefit from the future development of a haplotype map of the genome...
  32. doi request reprint Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis
    Brijesh Srivastava
    Academic Department of Medical Genetics, University of Cambridge, Cambridge, UK
    Scand J Gastroenterol 47:820-6. 2012
    ..Recent genetic studies in PSC have identified associations at 2q13, 2q35, 3p21, 4q27, 13q31 and suggestive association at 10p15. The aim of this study was to further characterize and refine the genetic architecture of PSC...
  33. ncbi request reprint Maternal-fetal interactions and birth order influence insulin variable number of tandem repeats allele class associations with head size at birth and childhood weight gain
    Ken K Ong
    Department of Pediatrics, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Diabetes 53:1128-33. 2004
    ..Our results indicate that complex prenatal and postnatal gene-maternal/fetal interactions influence size at birth and childhood risk factors for adult disease...
  34. ncbi request reprint Parameters for reliable results in genetic association studies in common disease
    Ingrid Dahlman
    JDRF WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust MRC Building, Hills Road, Cambridge CB2 2XY, UK
    Nat Genet 30:149-50. 2002
    ..These results emphasize the need for large datasets, small P values and independent replication if results are to be reliable...
  35. pmc Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
    George F Mells
    Academic Department of Medical Genetics, Cambridge University, Cambridge, UK Department of Hepatology, Cambridge University Hospitals National Health Service NHS Foundation Trust, Cambridge, UK
    Nat Genet 43:329-32. 2011
    ..New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC...
  36. ncbi request reprint Genome-wide scans for leprosy and tuberculosis susceptibility genes in Brazilians
    E N Miller
    Cambridge Institute for Medical Research, Wellcome Trust MRC Building, University of Cambridge School of Clinical Medicine, Addenbrookes Hospital, Hills Road, Cambridge CB2 2XY, UK
    Genes Immun 5:63-7. 2004
    ..32, 17q22, 20p13) to leprosy (HLA-DQA, 3.23, P=5.8 x 10(-5); D17S1868, 2.38, P=0.0005; D20S889, 1.51, P=0.004). The peak at D20S889 for leprosy is 3.5 Mb distal to that reported at D20S115 for leprosy in India. (151 words)...
  37. pmc Linkage and association analysis of GAW15 simulated data: fine-mapping of chromosome 6 region
    Pimphen Charoen
    University of Cambridge, Diabetes and Inflammation Laboratory, Department of Medical Genetics, CIMR, Addenbrookes Hospital, Cambridge, CB2 2XY, UK
    BMC Proc 1:S23. 2007
    ....
  38. ncbi request reprint Evidence for a cluster of genes on chromosome 17q11-q21 controlling susceptibility to tuberculosis and leprosy in Brazilians
    S E Jamieson
    Cambridge Institute for Medical Research, University of Cambridge School of Clinical Medicine, Addenbrookes Hospital, Cambridge, UK
    Genes Immun 5:46-57. 2004
    ..Stepwise conditional logistic regression analysis using a case/pseudo-control data set showed that the four genes contributed separate main effects, consistent with a cluster of susceptibility genes across 17q11.2...
  39. ncbi request reprint Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases
    T R Merriman
    Wellcome Trust Centre for Molecular Mechanisms in Disease, University of Cambridge, UK
    Diabetes 50:184-94. 2001
    ..Collectively, these data suggest that a locus (or loci) exists on human chromosome 18q12-q21 that influences multiple autoimmune diseases and that this association might be conserved between species...
  40. ncbi request reprint Haplotype tagging for the identification of common disease genes
    G C Johnson
    JDRF/WT Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/Medical Research Council Building, Hills Road, Cambridge, UK
    Nat Genet 29:233-7. 2001
    ..A directed re-sequencing effort of the approximately 10% of the genome in or near genes in the major ethnic groups would aid the systematic evaluation of the common variant model of common disease...
  41. ncbi request reprint Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema
    Sara J Brown
    J Invest Dermatol 128:1591-4. 2008
  42. pmc A genome-wide scan for type 1 diabetes susceptibility genes in nuclear families with multiple affected siblings in Finland
    Qing Qiao
    Department of Public Health, University of Helsinki, Finland
    BMC Genet 8:84. 2007
    ....
  43. ncbi request reprint Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility
    Alison Sutherland
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 92:3338-41. 2007
    ..Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID rs11568821) in the programmed cell death (PDCD1) gene was associated with systemic lupus erythematosus and rheumatoid arthritis...
  44. ncbi request reprint Dealing with missing data in family-based association studies: a multiple imputation approach
    Pascal Croiseau
    Universite Paris Sud, UMR S535, Villejuif, France
    Hum Hered 63:229-38. 2007
    ..Multiple imputation had some advantages over missing data likelihood methods with regards to ease of use and model flexibility. Multiple imputation methods represent promising tools in the search for disease susceptibility variants...
  45. ncbi request reprint Absolute risk of childhood-onset type 1 diabetes defined by human leukocyte antigen class II genotype: a population-based study in the United Kingdom
    A Paul Lambert
    Division of Medicine, University of Bristol, Bristol BS10 5NB, United Kingdom
    J Clin Endocrinol Metab 89:4037-43. 2004
    ..4%), whereas inclusion of 11 genotypes achieved the same sensitivity for diagnosis for ages 10-14 yr. Analysis of genotype-specific risk should form the basis for design of future primary prevention trials in the general population...
  46. pmc The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis
    Andrew E Timms
    Institute of Musculoskeletal Sciences, University of Oxford, Botnar Research Centre, Oxford, United Kingdom
    Am J Hum Genet 75:587-95. 2004
    ..In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS...
  47. ncbi request reprint Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes
    Costantino Motzo
    Dipartimento di Scienze Biomediche e Biotecnologie, Universita di Cagliari, Sardinia, Italy
    Diabetes 53:3286-91. 2004
    ....
  48. ncbi request reprint A conditional-on-exchangeable-parental-genotypes likelihood that remains unbiased at the causal locus under multiple-affected-sibling ascertainment
    Peter Kraft
    Genet Epidemiol 29:87-90. 2005
  49. pmc Affected-sib-pair data can be used to distinguish two-locus heterogeneity from two-locus epistasis
    Heather J Cordell
    Am J Hum Genet 73:1468-71; author reply 1471-3. 2003
  50. pmc Regression mapping of association between the human leukocyte antigen region and Graves disease
    Matthew J Simmonds
    Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, and Birmingham Heartlands Hospital, Birmingham B9 5SS, United Kingdom
    Am J Hum Genet 76:157-63. 2005
    ..However, we cannot yet exclude a primary role for DQA1 or for other polymorphisms that affect DRB1 function or expression...
  51. ncbi request reprint Analysis of the role of DPB1-encoded amino acids in the genetic predisposition to type I diabetes mellitus
    Michelle L Rayner
    Department of Medicine, Division of Medical Sciences, University of Birmingham and Birmingham Heartlands Hospital, United Kingdom
    Hum Immunol 63:413-7. 2002
    ..This contrasts with findings for the DRbeta, DQalpha and DQbeta peptide chains, where the identity of the amino acid at particular sites has been found to correlate with predisposition to type I diabetes...
  52. ncbi request reprint Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Genet Epidemiol 31:42-50. 2007
    ..Our findings suggest that the genes underlying the PPR1 and PPR2 susceptibility loci may have similar functions or act in the same biochemical pathway...
  53. ncbi request reprint Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene
    Helen Imrie
    Institute of Human Genetics, Central Parkway, Newcastle NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 91:5051-6. 2006
    ..However, the relative importance of polymorphisms in CYP11B1 and CYP11B2 in determining these phenotypes is unknown...
  54. ncbi request reprint Introduction to Genetic Analysis Workshop 15 summaries
    John S Witte
    Department of Epidemiology and Biostatistics, Institute for Human Genetics, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    Genet Epidemiol 31:S1-6. 2007
    ..Further details on GAW15 are provided here, and the primary findings from the workshop are highlighted in the following group summary papers...
  55. doi request reprint Filaggrin null mutations and childhood atopic eczema: a population-based case-control study
    Sara J Brown
    Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
    J Allergy Clin Immunol 121:940-46.e3. 2008
    ..Null mutations within the filaggrin gene (FLG) are associated with moderate-to-severe atopic eczema; their role in mild-to-moderate eczema in the general population is unknown...