A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä

Role of Type 1 diabetes associated SNPs on risk of autoantibody positivity in the TEDDY Study




TekijätTörn C, Hadley D, Lee HS, Hagopian W, Lernmark A, Simell O, Rewers M, Ziegler A, Schatz D, Akolkar B, Onengut-Gumuscu S, Chen WM, Toppari J, Mykkänen J, Ilonen J, Rich SS, She JX, Steck AK, Krischer J; the TEDDY Study Group

Julkaisuvuosi2015

JournalDiabetes

Vuosikerta64

Numero5

Aloitussivu1818

Lopetussivu1829

Sivujen määrä12

ISSN0012-1797

DOIhttps://doi.org/10.2337/db14-1497


Tiivistelmä

The Environmental Determinants of Diabetes in the Young (TEDDY) study prospectively follows 8,677 children enrolled from birth, who carry HLA-susceptibility genotypes for development of islet autoantibodies (IA) and type 1 diabetes (T1D). During the median follow-up time of 57 months, 350 children developed at least one persistent IA (GADA, IA-2A or mIAA) and 84 of them progressed to T1D. We genotyped 5,164 Caucasian children for 41 non-HLA SNPs that achieved genome-wide significance for association with T1D in the GWAS meta-analysis conducted by the Type 1 Diabetes Genetics Consortium. In TEDDY-participants carrying high-risk HLA-genotypes, eight SNPs achieved significant association to development of IA using time-to-event analysis (p<0.05), whereof four were significant after adjustment for multiple testing (p<0.0012): rs2476601 in PTPN22 (hazard ratio [HR] 1.54 [95% CI 1.27-1.88]), rs2292239 in ERBB3 (HR 1.33 [95% CI 1.14-1.55]), rs3184504 in SH2B3 (HR 1.38 [95% CI 1.19-1.61]) and rs1004446 in INS (HR 0.77 [0.66-0.90]). These SNPs were also significantly associated with T1D in particular: rs2476601 (HR 2.42 [95% CI 1.70-3.44]). Although genes in the HLA-region remain the most important genetic risk factors for T1D, other non-HLA genetic factors contribute to IA, a first step in the pathogenesis of T1D, and the progression of the disease.



Last updated on 2024-26-11 at 18:40