Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

Diabetes

Volumn 61, Issue 11, 2012, Pages 3012-3017

  Howson, Joanna M M ^a   Cooper, Jason D ^a   Smyth, Deborah J ^a   Walker, Neil M ^a   Stevens, Helen ^a   She, Jin Xiong ^b   Eisenbarth, George S ^c   Rewers, Marian ^c   Todd, John A ^a   Akolkar, Beena ^d   Concannon, Patrick ^e   Erlich, Henry A ^f   Julier, Cécile ^g   Morahan, Grant ^h   Nerup, Jørn ⁱ   Nierras, Concepcion ^j   Pociot, Flemming ^k   Rich, Stephen S ^e,l  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c UNIVERSITY OF COLORADO DENVER   (United States)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^e UNIVERSITY OF VIRGINIA   (United States)

^f ROCHE MOLECULAR SYSTEMS   (United States)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

ⁱ STENO DIABETES CENTER   (Denmark)

^j Juvenile Diabetes Research Foundation International   (United States)

^k GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^l UNIVERSITY OF VIRGINIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING); CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA ANTIGEN CLASS 2; INTERLEUKIN 2; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; RENALASE; UNCLASSIFIED DRUG;

ADULT; AGE AT DIAGNOSIS; AGE DISTRIBUTION; ALLELE; ARTICLE; CHILD; CHROMOSOME 4Q; DISEASE COURSE; FEMALE; GENDER; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AGE OF ONSET; ALLELES; CASE-CONTROL STUDIES; COHORT STUDIES; CTLA-4 ANTIGEN; DIABETES MELLITUS, TYPE 1; EPISTASIS, GENETIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERLEUKIN-2; MALE; MONOAMINE OXIDASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; REGRESSION ANALYSIS;

EID: 84868036600     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db11-1694     Document Type: Article

References (29)

1. Barrett JC, Clayton DG, Concannon P, et al.; Type 1 Diabetes Genetics Consortium. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009;41:703-707
2. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-678
3. Todd JA, Walker NM, Cooper JD, et al.; Genetics of Type 1 Diabetes in Finland; Wellcome Trust Case Control Consortium. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007;39:857-864
4. Clayton DG. Prediction and interaction in complex disease genetics: experience in type 1 diabetes. PLoS Genet 2009;5:e1000540
5. Lee SH, Wray NR, Goddard ME, Visscher PM. Estimating missing heritability for disease from genome-wide association studies. Am J Hum Genet 2011;88:294-305
6. So HC, Gui AH, Cherny SS, Sham PC. Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol 2011;35:310-317
7. Cordell HJ. Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Hum Mol Genet 2002;11:2463-2468
8. Howson JM, Stevens H, Smyth DJ, et al. Evidence that HLA class I and II associations with type 1 diabetes, autoantibodies to GAD and autoanti-bodies to IA-2, are distinct. Diabetes 2011;60:2635-2644
9. Caillat-Zucman S, Garchon HJ, Timsit J, et al. Age-dependent HLA genetic heterogeneity of type 1 insulin-dependent diabetes mellitus. J Clin Invest 1992;90:2242-2250
10. Howson JM, Rosinger S, Smyth DJ, Boehm BO, Todd JA; ADBW-END Study Group. Genetic analysis of adult-onset autoimmune diabetes. Diabetes 2011;60:2645-2653
11. Nejentsev S, Howson JM, Walker NM, et al.; Wellcome Trust Case Control Consortium. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature 2007;450:887-892
12. Howson JM, Walker NM, Clayton D, Todd JA; Type 1 Diabetes Genetics Consortium. Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A. Diabetes Obes Metab 2009;11(Suppl. 1):31-45
13. Espino-Paisan L, de la Calle H, Fernández-Arquero M, et al. Polymorphisms in chromosome region 12q13 and their influence on age at onset of type 1 diabetes. Diabetologia 2011;54:2033-2037
14. Wang H, Jin Y, Reddy MV, et al. Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk. PLoS ONE 2010;5:e11789
15. Espino-Paisan L, de la Calle H, Fernández-Arquero M, et al. A polymorphism in PTPN2 gene is associated with an earlier onset of type 1 diabetes. Immunogenetics 2011;63:255-258
16. Payne F, Cooper JD, Walker NM, et al. Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes. J Leukoc Biol 2007;81:581-583
17. Bergholdt R, Taxvig C, Eising S, Nerup J, Pociot F. CBLB variants in type 1 diabetes and their genetic interaction with CTLA4. J Leukoc Biol 2005;77: 579-585
18. Maier LM, Chapman J, Howson JM, et al. No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes. Am J Hum Genet 2005;76:517-521
19. Bugawan TL, Mirel DB, Valdes AM, Panelo A, Pozzilli P, Erlich HA. Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos. Am J Hum Genet 2003;72:1505-1514
20. Smyth DJ, Cooper JD, Howson JM, et al. PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. Diabetes 2008;57:1730-1737
21. Bjørnvold M, Undlien DE, Joner G, et al. Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia 2008;51:589-596
22. Hermann R, Lipponen K, Kiviniemi M, et al. Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes. Diabetologia 2006;49:1198-1208
23. Steck AK, Liu SY, McFann K, et al. Association of the PTPN22/LYP gene with type 1 diabetes. Pediatr Diabetes 2006;7:274-278
24. Nielsen C, Hansen D, Husby S, Lillevang ST. Sex-specific association of the human PTPN22 1858T-allele with type 1 diabetes. Int J Immunogenet 2007; 34:469-473
25. Umbach DM, Weinberg CR. Designing and analysing case-control studies to exploit independence of genotype and exposure. Stat Med 1997;16: 1731-1743
26. Cordell HJ, Barratt BJ, Clayton DG. 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. Genet Epidemiol 2004;26:167-185
27. Todd JA, Aitman TJ, Cornall RJ, et al. Genetic analysis of autoimmune type 1 diabetes mellitus in mice. Nature 1991;351:542-547
28. Malyszko J, Zbroch E, Malyszko JS, Koc-Zorawska E, Mysliwiec M. Renalase, a novel regulator of blood pressure, is predicted by kidney function in renal transplant recipients. Transplant Proc 2011;43:3004-3007
29. Wallace C, Rotival M, Cooper JD, et al.; The Cardiogenics Consortium. Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes. Hum Mol Genet 2012