Sánchez Elena, Alizadeh Behrooz Z, Valdigem Gustavo, Ortego-Centeno Norberto, Jiménez-Alonso Juan, de Ramón Enrique, García Antonio, López-Nevot Miguel A, Wijmenga Cisca, Martín Javier, Koeleman Bobby P C
Instituto de Parasitología y Biomedicina López-Neyra (CSIC), Granada, Spain.
Hum Immunol. 2007 Jul;68(7):610-5. doi: 10.1016/j.humimm.2007.03.006. Epub 2007 Apr 10.
The aim of the study was to test MYO9B gene polymorphisms for association with three autoimmune diseases, systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and celiac disease (CD), in a Spanish population. We analyzed three SNPs (rs2305767, rs1457092, and rs2305764) in a case-control cohort composed of 349 SLE patients, 356 RA patients, 90 CD patients, and 345 healthy controls. All three SNPs showed a consistent increased frequency of the A allele in SLE, RA, and CD patients compared with healthy controls. An association was observed between CD and rs2305764 (p=0.01, OR=2.3), between SLE and rs1457092 (p=0.002, OR=1.4), and between RA and rs1457092 (p=0.02, OR=1.3). The three autoimmune diseases combined showed significant association with rs1457092 and rs2305764 and with the AAA haplotype (p haplotype=0.005, OR=1.3). Our data demonstrate consistent association with the A allele and AAA haplotype of three SNPs in the MYO9B gene, which were previously reported to be associated with CD in the Dutch population. This suggests that genetic variation in MYO9B is associated with CD, SLE, and RA and that MYO9B is a general risk factor for autoimmunity.
本研究的目的是在西班牙人群中检测MYO9B基因多态性与三种自身免疫性疾病，即系统性红斑狼疮（SLE）、类风湿性关节炎（RA）和乳糜泻（CD）之间的关联。我们在一个病例对照队列中分析了三个单核苷酸多态性（SNP，rs2305767、rs1457092和rs2305764），该队列由349例SLE患者、356例RA患者、90例CD患者和345名健康对照组成。与健康对照相比，所有这三个SNP在SLE、RA和CD患者中均显示A等位基因频率一致增加。在CD与rs2305764之间（p = 0.01，比值比[OR]=2.3）、SLE与rs1457092之间（p = 0.002，OR = 1.4）以及RA与rs1457092之间（p = 0.02，OR = 1.3）观察到关联。合并的这三种自身免疫性疾病与rs1457092和rs2305764以及AAA单倍型显示出显著关联（单倍型p = 0.005，OR = 1.3）。我们的数据表明，MYO9B基因中三个SNP的A等位基因和AAA单倍型存在一致的关联，此前在荷兰人群中报道这些SNP与CD相关。这表明MYO9B中的基因变异与CD、SLE和RA相关，并且MYO9B是自身免疫的一个普遍风险因素。
