IFIH1 gene polymorphism in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population.

The evaluation of susceptibility loci in a registry-based setting could be an important addition to the current predictive and screening models in T1D. Therefore, the aim of this study was to evaluate the importance of one of these loci, IFIH1. T1D patients (n=1981), control subjects (n=2092) and 430 families were genotyped for HLA-DQ and IFIH1 nsSNP rs1990760 (Ala946Thr). In the association analysis, the allelic frequencies, A (62.4% vs. 61.3%) and G (37.6% vs. 38.7%) were similar in cases and controls (?2 = 0.98, p = 0.32), the genotypic frequencies reveals a weak association with T1D (?2 = 6.79, p = 0.03), no significant transmission distortions in families (%T; A = 51.4%, G = 48.0 %, ?2 = 1.76, p = 0.19) and no interaction with HLA-DQ-linked risk. Furthermore, no genotype-phenotype correlation was observed. In conclusion, IFIH1 has no important role in T1D risk assessment in a registry-based Belgian population.

Publication year:2009

Keywords:type 1 diabetes, genetic association, interferon-induced helicase, IFIH1, autoimmune disease