中文摘要：

目的研究GJB2基因上单核苷酸多态性rs3751385位点与汉族人群寻常型银屑病临床表型的相关性。方法选取6 693例患者和10 718例正常对照的rs3751385位点基因分型资料（基因分型采用Illumina 610芯片）。利用SPSS10.0统计软件,采用χ2检验比较各组间基因型和等位基因频率分布差异。结果病例组与对照组间rs3751385位点基因型和等位基因频率分布差异有显著性（P=3.50×10-9,P=1.90×10-8）。病例中家族史阳性和阴性患者的基因型频率分布差异有显著性（P=0.018）,而等位基因频率分布差异无显著性。少儿发病与成人发病患者、急性点滴型与慢性斑块型患者之间的基因型和等位基因频率分布差异均无显著性。结论 GJB2基因rs3751385位点遗传多态性与汉族人群寻常型银屑病的易感性相关,尤其是与家族性银屑病有明显相关性,但与发病年龄及临床类型无明显相关性。

英文摘要：

Objective To investigate the potential association of GJB2 gene polymorphism and some phenotypes of psoriasis vulgaris in Chinese Han population.Methods 6 693 psoriasis vulgaris patients and 10 718 controls were analyzed.The rs3751385 in GJB2 gene was genotyped by the Illumina Human 610-Quad BeadChips.Chi square test was used for comparing genotype or allele frequency distribution among the groups.Results We found that the genotypic and allelic frequencies of rs3751385 in GJB2 gene were significant differences between the cases and the controls（P=3.50 × 10-9,1.90 × 10-8,respectively）.The distribution genotypes for rs3751385 showed significant associations between family cases and sporadic cases（χ2=8.006,P=0.018）,but there weren＇t significant differences between family cases and sporadic cases in distribution of allele（χ2=3.121,P=0.077）.However,there were no statistical significance between the pediatric onset psoriasis patients and the adult onset psoriasis patients and between the guttate and plaque cases.Conclusion The findings indicate that the genetic polymorphism of GJB2 gene（rs3751385） is associated with family history,but may be not associated with the onset,and clinical type of psoriasis vulgaris in Chinese Han population.