Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Científicas (CSIC), Granada, Spain.
Genes Immun. 2010 Jul;11(5):439-45. doi: 10.1038/gene.2010.30. Epub 2010 May 27.
Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05-1.23); rs3184504 in SH2B3 (P=0.00001, OR=1.19, 95% CI=1.10-1.27) and rs763361 in CD226 (P=0.00007, OR=1.16, 95%CI=1.08-1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The SH2B3 polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.
全基因组关联研究（GWAS）表明，不同的疾病具有共同的易感变异。在一个 2864 例多发性硬化症（MS）患者和 2930 名对照的西班牙白种人群中，对先前与 GWAS 中不同免疫介导性疾病相关的 12 个单核苷酸多态性（SNP）进行了基因分型。发现 3 个 SNP 与 MS 相关：KIF5A 中的 rs1678542（P=0.001，比值比（OR）=1.13，95%置信区间（CI）=1.05-1.23）；SH2B3 中的 rs3184504（P=0.00001，OR=1.19，95%CI=1.10-1.27）和 CD226 中的 rs763361（P=0.00007，OR=1.16，95%CI=1.08-1.25）。这些变体先前与类风湿关节炎和 1 型糖尿病相关。SH2B3 多态性还与系统性红斑狼疮有关。除了验证这些基因座中的一些作为 MS 的风险因素外，我们的结果还与不同免疫介导性疾病的共同遗传机制一致。这些数据可能有助于塑造每条途径对不同疾病的贡献。
