CYP19a1基因的单核苷酸多态性与中国汉族成人寻常痤疮的关联研究  

Association between single nucleotide polymorphisms of CYP19a1 gene and adult acne vulgaris in Chinese Han Population

作　　者：刘晔[1] 张正华[1] 项蕾红[1] 

机构地区：[1]复旦大学附属华山医院皮肤科,上海200042

出　　处：《临床皮肤科杂志》2015年第1期7-10,共4页Journal of Clinical Dermatology

摘　　要：目的：初步探索CYP19a1基因的单核苷酸多态性（SNP）与中国汉族成人寻常痤疮发病和严重程度的关系。方法：共纳入309例Pillsbury分级Ⅰ～Ⅳ的寻常痤疮患者，分为轻度组（I级，99例）和中重度组（Ⅱ～Ⅳ级，210例）。从患者外周静脉血中抽提DNA组．经多重聚合酶链式反应（PCR）获取目的基因片段后，采用SNaPshot分型技术检测CYP19a1基因上的10个候选SNP位点的基因型。结果：①rs28892002位点在显性遗传模式下，CC基因型的分布频率在中重度组显著高于轻度组（58．5％vs．46．5％．P=-0．046，OR=0．614，95％CI=0．379—0．993）；②rs2255192-rs4646-rs10064-rs700519这组单倍型在显性模式下，其C—C—C—C、C—C—T—C基因型在两组间分柿差异有统计学意义（P值分别为0．0000、0．0216，OR值分别为5．0198和2．0707）。结论：中国汉族人群中．CYP19a1基因上的rs28892002位点CC野生纯合子基因型可能增加中重度寻常痤疮的患病风险；rs2255192-rs4646-rs10064-rs700519这组单倍型在显性模式下，其C—C—C—C、C—C—T—C基因型可能减少中、重度寻常痤疮的患病风险。Objective： To explore the association between the genetic polymorphisms in CYP19a1 gene, and the prevalence and the severity of acne in Chinese Hart population. Methods： 309 patients with Pillsbury Ⅰ° -Ⅳ°acne were divided into mild group （Ⅰ °ache, 99 cases） and moderate-severe group （Ⅱ°-Ⅳ°acne, 210 cases）. Genomic DNA＇ was extracted from patients＇peripheral blood. SNaPshot technique was used to detect the 10 candidate SNPs in CYP19al gene after obtaining target segments with PCR. Results： For SNP rs28892002, according to dominant model, the genotype CC was more frequent in moderate-severe group than in mild group （58.5% vs.46.5%,P=0.046,OR=0.614,95% CI=0.379-0.993）. According to dominant model, the genotype frequency of C-C-C-C and C-C-T-C for the haplotype of rs2255192-rs4646-rs10064- rs700519 showed a significant difference between mild group and moderate-severe group （P=0.0000 and 0.0216, OR=5.0198 and 2.0707, respectively）. Conclusions： CC genotype of rs28892002 might be associated with predisposition to moderate-severe ache vulgaris in Chinese Han population while the genotype C-C-C-C and C-C-T-C for haplotype of rs2255192- rs4646-rs10064-rs700519 could be associated with low risk for moderate-severe ache vulgaris in Chinese Han population.

关 键 词：1CYP19a1基因 寻常痤疮 

分 类 号：R758.733[医药卫生—皮肤病学与性病学]