Variant form of STAT4 is associated with primary Sjogren's syndrome
Variant form of STAT4 is associated with primary Sjogren's syndrome
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DOI：
10.1038/gene.2008.1
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发表时间：
2008-04-01
影响因子：
5
通讯作者：
Illei, G. G.
中科院分区：
文献类型：
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作者：
Korman, B. D.;Alba, M. I.;Illei, G. G.
STAT4基因的单核苷酸多态性最近被证明与类风湿关节炎（RA）和系统性红斑狼疮（SLE）有关。原发性干燥综合征（pSS）是一种相关的自身免疫性疾病，其发病机制与上述疾病相似。为了验证在RA和SLE中发现的STAT4变异单倍型也与pSS相关的假设，我们对124名高加索pSS受试者进行了rs7574865基因分型，这是STAT4变异单倍型中与疾病相关最强烈的SNP，并将其与1143名高加索对照进行了比较。pSS患者染色体中与疾病相关的T等位基因（29.6%）比对照组（22.3%）更常见，相关性p值为0.01。这些结果暗示STAT4基因的多态性与pSS的发病机制有关。
Single nucleotide polymorphisms in the STAT4 gene have recently been shown to be associated with rheumatoid arthritis ( RA) and systemic lupus erythematosus (SLE). Primary Sjogren's sydrome (pSS) is a related autoimmune disease thought to have a pathogenesis similar to these diseases. To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is also associated with pSS, we genotyped rs7574865, the most strongly disease-associated SNP in the variant STAT4 haplotype, in 124 Caucasian pSS subjects and compared them to 1143 Caucasian controls. The disease-associated T allele was more common in chromosomes of the pSS patients (29.6%) than in controls (22.3%), leading to a P-value for association of 0.01. These results implicate polymorphisms in the STAT4 gene in the pathogenesis of pSS.