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  • Title: Association study of interleukin-12A gene polymorphisms with Graves' disease in two Chinese populations.
    Author: Guo T, Yang S, Liu N, Wang S, Cui B, Ning G.
    Journal: Clin Endocrinol (Oxf); 2011 Jan; 74(1):125-9. PubMed ID: 21044109.
    Abstract:
    OBJECTIVE: Graves' disease (GD) is a common autoimmune disorder and genetic and environmental factors contributing to its aetiology. The pro-inflammatory cytokine interleukin-12 (IL-12) is believed to be critically involved in the pathogenesis of GD. This study aims to elucidate the effect of IL-12A gene polymorphisms on GD. DESIGN AND METHODS: A case-control association study of five tag single nucleotide polymorphisms (SNPs) (rs2243115, rs2243123, rs583911, rs568408 and rs2243143) within the IL-12A gene was performed in two independent Chinese cohorts. A pilot cohort conducted in Shanghai consisted of 701 patients and 686 controls and a replicate cohort in Xiamen Island included 378 patients and 312 controls. The five SNPs were genotyped by the SNPstream Genotyping Systems and Taqman PCR method. RESULTS: Polymorphism of rs568408, located at the 3'-UTR region, was found to have a significant association with GD in both the cohorts (P(allele) = 2·96 × 10⁻⁷ and P(allele) = 0·013 for Shanghai and Xiamen Island cohorts, respectively). Haplotype analysis showed that the haplotype of the five SNPs (TTAAG) was associated with a significant risk of GD in both the cohorts (OR = 2·04 and OR = 1·70 for Shanghai and Xiamen Island cohorts, respectively). CONCLUSION: Our results have established an association between IL-12A polymorphism and GD susceptibility in the Chinese population.
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