In:
Clinical Endocrinology, Wiley, Vol. 78, No. 2 ( 2013-02), p. 191-196
Abstract:
The interferon‐induced helicase C domain‐containing protein 1 ( IFIH1 ) gene encodes a sensor for double‐stranded RNA that initiates antiviral activity against enteroviruses. Previous investigations have indicated a role for IFIH1 in autoimmunity, as common and rare polymorphisms in this gene have been associated with type 1 diabetes. We hypothesized that polymorphisms in the IFIH1 locus may play a role in the pathogenesis of autoimmune Addison's disease ( AAD ). Design We analysed the association of rs3747517, rs1990760, rs2111485 and rs13422767 single‐nucleotide polymorphisms ( SNP s) in the IFIH1 gene and intergenic region with AAD in a Polish cohort. The study comprised 120 patients with AAD and 689 healthy control individuals. Genotyping was performed using T aq M an genotyping assays. Results The major AA genotype of the coding SNP rs1990760 appeared significantly more frequently in AAD compared with healthy individuals ( AG vs AA OR 0·62, 95% CI 0·40–0·95, P = 0·03). We also observed a significant difference in the distribution of the rs13422767 SNP alleles. The major G allele was more frequent in the AAD group (A vs G OR 0·65, 95% CI 0·43–0·98, P = 0·04). Both statistically significant differences, for rs1990760 and rs13422767 SNP s, did not survive the B onferroni correction ( P = 0·11 and P = 0·15, for AA genotype and G allele, respectively). Subsequently, a meta‐analysis of 519 patients with AAD and 1362 controls from three different European populations was performed. Under a fixed‐effect model, a pooled OR for A allele and AA genotype of rs1990760 did not display any significant increase among AAD ( OR = 1·05, P = 0·56 and OR = 1·08, P = 0·50, respectively). Conclusion The IFIH1 locus polymorphisms are unlikely to be associated with Addison's disease
Type of Medium:
Online Resource
ISSN:
0300-0664
,
1365-2265
DOI:
10.1111/cen.2012.78.issue-2
DOI:
10.1111/j.1365-2265.2012.04497.x
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
121745-8
detail.hit.zdb_id:
2004597-9
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