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.
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.
Authors: Alicja E Grzegorzewska; Monika K Świderska; Adrianna Mostowska; Wojciech Warchoł; Paweł P Jagodziński Journal: BMC Nephrol Date: 2017-05-19 Impact factor: 2.388
Authors: Rosalinda Posadas-Sánchez; Nonanzit Pérez-Hernández; Javier Angeles-Martínez; Fabiola López-Bautista; Teresa Villarreal-Molina; José Manuel Rodríguez-Pérez; José Manuel Fragoso; Carlos Posadas-Romero; Gilberto Vargas-Alarcón Journal: Mediators Inflamm Date: 2017-02-22 Impact factor: 4.711