The association between GJB2 gene polymorphism and psoriasis: a verification study
The association between GJB2 gene polymorphism and psoriasis: a verification study
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GJB2基因多态性与银屑病关联性的验证研究
DOI：
10.1007/s00403-012-1273-x
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发表时间：
2012-11-01
影响因子：
3
通讯作者：
Chen, Xiang
中科院分区：
文献类型：
--
作者：
Liu, Que-Ping;Wu, Li-Sha;Chen, Xiang
银屑病是一种慢性炎症性皮肤病，病因多因素。连接蛋白26 （Cx26）是一种重要的间隙连接蛋白，在银屑病斑块中高度表达。最近，全基因组关联研究（GWAS）在中国汉族人群中发现了一个新的编码与银屑病相关的Cx26蛋白的GJB2基因单核苷酸多态性（SNP）。本文对中国汉族人口的GWAS数据进行了验证。本文采用聚合酶链反应限制性片段长度多态性测定（PCR-RFLP）对371例中国汉族银屑病患者和330例健康对照者的GJB2 rs3751385:C > T基因多态性进行了分型。我们的病例对照分析显示，银屑病患者中GJB2 rs3751385 C等位基因的频率低于健康对照组[p = 6.02 × 10(-5)，优势比(OR) = 0.793, 95%可信区间（CI） 0.706-0.889]。提示GJB2基因多态性rs3751385:C > T与中国汉族人群银屑病易感性相关。
Psoriasis is a chronic inflammatory skin disease with multifactorial etiology. Connexin 26 (Cx26), an important gap junction protein, has been found highly expressed in plaques of psoriasis. Recently, genome wide association studies (GWAS) identified one new single nucleotide polymorphism (SNP) in GJB2 gene coding for Cx26 protein associated with psoriasis in Chinese Han population. In this paper, we verified the GWAS data in Chinese Han population. Here we genotyped the polymorphism of GJB2 rs3751385:C > T in 371 psoriasis patients and 330 healthy controls in Chinese Han population using polymerase chain reaction restriction fragment length polymorphism assay (PCR-RFLP). Our case-control assay indicated decreased frequency of the GJB2 rs3751385 C allele in psoriasis patients compared with that in the healthy controls [p = 6.02 x 10(-5), Odds ratio (OR) = 0.793, 95 % confidence interval (CI) 0.706-0.889]. The result suggested that GJB2 gene polymorphism rs3751385:C > T was associated with psoriasis susceptibility of Chinese Han population.