title: IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population.
abstract: 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 (chi(2) = 0.98, p = 0.32), the genotypic frequencies reveals a weak association with T1D (chi(2) = 6.79, p = 0.03), no significant transmission distortions in families (%T; A = 51.4%, G = 48.0 %, chi(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.
authors.affiliation: Diabetes Research Center, Faculty of Medicine and Pharmacy, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Folefac
authors.initials: F
authors.lastname: Aminkeng
authors.forename: Jan E
authors.initials: JE
authors.lastname: Van Autreve
authors.forename: Ilse
authors.initials: I
authors.lastname: Weets
authors.forename: Erik
authors.initials: E
authors.lastname: Quartier
authors.forename: Chris
authors.initials: C
authors.lastname: Van Schravendijk
authors.forename: Frans K
authors.initials: FK
authors.lastname: Gorus
authors.forename: Bart J
authors.initials: BJ
authors.lastname: Van der Auwera
mesh_terms: D000328:Adult; D001530:Belgium; D053487:DEAD-box RNA Helicases / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D012042:Registries
chemical_list: D006683:HLA-DQ Antigens; C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1