Instituto de Parasitología y Biomedicina López-Neyra, Consejo Superior de Investigaciones Científicas, Spain.
Lupus. 2012 Oct;21(11):1166-71. doi: 10.1177/0961203312449494. Epub 2012 May 25.
The aim of this study was to evaluate the relevance of genetic variants of interleukin receptor-associated kinase-M (IRAK-M) (rs11465955, rs1624395, rs1152888 and rs1370128) and single immunoglobulin IL1-1R-related molecule (SIGIRR) (rs3210908) genes in systemic lupus erythematosus (SLE) in four independent European-descent populations.
Our study population consisted of a total of 2033 SLE patients and 2357 healthy controls from Spain, Germany, Italy and Argentina. The genotyping was performed using a polymerase chain reaction (PCR) system with pre-developed TaqMan allelic discrimination assay. Genetic association between the genotyped markers was determined by PLINK v1.07.
After a meta-analysis including these four populations, a trend of association between rs11465955 (P(meta) (-analysis) = 0.06), rs1370128 (P(meta) (-analysis) = 0.07) and rs1624395 (P(meta) (-analysis) = 0.06) polymorphisms was found. However, these differences did not reach statistical significance. In addition, we did not find any association between SLE and the rs1152888 IRAK-M (P(meta) (-analysis) = 0.13) and the rs3210908 SIGIRR (P(meta) (-analysis) = 0.40) polymorphisms after the meta-analysis. No evidence of association with IRAK-M haplotypes was found.
These results suggest that the tested variations of IRAK-M and SIGIRR genes do not confer a relevant role in the susceptibility to SLE in European-descent populations.
本研究旨在评估白细胞介素受体相关激酶 M(IRAK-M)(rs11465955、rs1624395、rs1152888 和 rs1370128)和单一免疫球蛋白白细胞介素 1 受体相关分子(SIGIRR)(rs3210908)基因的遗传变异在系统性红斑狼疮(SLE)中的相关性,研究人群来自西班牙、德国、意大利和阿根廷的四个欧洲血统的独立群体。
我们的研究人群包括来自西班牙、德国、意大利和阿根廷的 2033 名 SLE 患者和 2357 名健康对照者。采用聚合酶链反应(PCR)系统和预开发的 TaqMan 等位基因区分检测进行基因分型。使用 PLINK v1.07 确定基因分型标记之间的遗传关联。
对这四个群体进行荟萃分析后,rs11465955(P(meta) (-analysis) = 0.06)、rs1370128(P(meta) (-analysis) = 0.07)和 rs1624395(P(meta) (-analysis) = 0.06)多态性与 SLE 之间存在关联趋势。然而,这些差异没有达到统计学意义。此外,在荟萃分析后,我们没有发现 rs1152888 IRAK-M(P(meta) (-analysis) = 0.13)和 rs3210908 SIGIRR(P(meta) (-analysis) = 0.40)多态性与 SLE 之间存在关联。也没有发现与 IRAK-M 单倍型相关的证据。
这些结果表明,在欧洲血统人群中,IRAK-M 和 SIGIRR 基因的测试变异与 SLE 的易感性无关。