PTPN22基因多态性与汉族人白癜风易感性关联分析  

Association between polymorphism of PTPN22 gene and vitiligo susceptibility in Chinese Han population

作　　者：袁锋[1,2,3,4] 权晟[1,2,3,4] 王丹妮[1,2,3,4] 张麟[1,2,3,4] 左先波[1,2,3,4] 孙良丹[1,2,3,4] 杨森[1,2,3,4] 张学军[1,2,3,4] 

机构地区：[1]安徽医科大学第一附属医院皮肤性病科,合肥230022 [2]安徽医科大学皮肤病研究所,合肥230032 [3]教育部重要遗传病基因资源利用重点实验室(省部共建),合肥230032 [4]安徽医科大学皮肤性病学系,合肥230032

出　　处：《安徽医科大学学报》2009年第3期308-310,共3页Acta Universitatis Medicinalis Anhui

基　　金：安徽医科大学国家创新研究群体科学基金获得者培育计划(编号:GJCXQT-0801)

摘　　要：目的研究PTPN22基因的5个单核苷酸多态性(single nucleotide polymorphisms,SNP)rs3811021、rs2476599、rs3789607、rs1217407、rs1217418与汉族人白癜风易感性的关系。方法利用Illumina 610-Quad芯片对1123例白癜风患者和1227例正常对照进行全基因组关联分析,选取芯片上覆盖PTPN22基因的5个SNP位点分型数据,用Plink1.03软件对数据进行统计分析。结果PTPN22基因上的5个SNP位点的等位基因频率在病例组和正常组之间的差异无统计学意义(rs3811021,P=0.730),(rs2476599,P=0.099),(rs3789607,P=0.875),(rs1217407,P=0.636),(rs1217418,P=0.274)。结论PTPN22基因的5个SNP位点(rs3811021、rs2476599、rs3789607、rs1217407、rs1217418)可能与汉族人白癜风易感性不相关。Objective To investigate the association between 5 single nucleotide polymorphisms （SNPs） rs3811021 ,rs2476599, rs3789607, rs1217407, rs1217418 on DTPN22 gene and vitiligo susceptibility in Chinese Han population. Methods The gcnotyping analysis was done by using the Illumina Human 610-Quad BeadChips in 1 123 vitiligo patients and 1 227 normal controls, then Plink 1.03 software were used to perform association analysis for selected SNPs on PTPN22 gene. Results The differences of allele frequencies between cases and controls on PTP22 gene were not significant （ rs3811021, P = 0. 730 ）, （ rs2476599, P = 0. 099 ）, （ rs3789607, P = 0. 875 ）, （rs1217407,P =0. 636）, （rs1217418,P =0. 274）. Conclusion The results suggest that the SNPs （rs3811021, rs2476599, rs3789607, rs1217407, rs1217418 ） on PTPN22 gene might be not associated with the susceptibility of vitiligo in Chinese Han population.

关 键 词：白癜风 多态性 单核苷酸 

分 类 号：R758.41[医药卫生—皮肤病学与性病学] R394.3[医药卫生—临床医学]