STAT4基因rs7574865多态性与中国汉族人群克罗恩病的相关性  

Association of the STAT4 gene rs7574865 polymorphism in the Chinese Han population with Crohn's disease

作　　者：庞智[1,2] 郑连民[1] 尹少朋[1] 皇甫照[2] 施瑞华[3] 

机构地区：[1]南京医科大学附属苏州市立医院北区消化内科,江苏苏州215008 [2]苏州市消化系疾病与营养研究中心,江苏苏州215008 [3]南京医科大学第一附属医院消化内科,江苏南京210029

出　　处：《南京医科大学学报（自然科学版）》2012年第1期77-81,共5页Journal of Nanjing Medical University(Natural Sciences)

基　　金：江苏省医学重点学科开放课题资助项目(KF200936-6)

摘　　要：目的:分析信号转导及转录激活因子4(signal transducer and activator of transcription 4,STAT4)基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs7574865 G>T的多态性与中国汉族人群克罗恩病发生的相关性。方法:选取汉族克罗恩病患者318例与健康对照者318例作为研究对象,抽提基因组DNA,采用聚合酶链式反应和直接测序方法检测STAT4基因SNP位点rs7574865的基因型,计算基因型与基因频率,采用χ2检验进行组间比较。结果:STAT4基因rs7574865多态位点GG、GT和TT基因型频率在病例组中分别为0.110、0.431和0.459,在对照组中分别为0.097、0.450和0.453,G和T等位基因的频率在病例组分别为0.325和0.675,在对照组分别为0.322和0.678,该位点基因型和等位基因分布在病例组与对照组均无统计学差异(P>0.05)。结论:STAT4基因rs7574865 G>T位点单核苷酸多态性与中国汉族人群克罗恩病发生无明显相关性。Objective：To investigate the association of a single nucleotide polymorphism（SNP）,rs7574865 GT,of the signal transducer and activator of transcription 4（STAT4） with Crohn＇s disease（CD） in the Chinese Han population.Methods： Genomic DNA from 636 individuals of Chinese Han origin including 318 patients with CD and 318 healthy controls was analyzed for the SNP（rs7574865） of the STAT4 gene.SNP rs7574865 GT was genotyped by polymerase chain reaction and direct sequencing.A Chi-square test was used to determine the association of SNP with CD.Results： The frequencies of genotypes GG,TG and TT at SNP rs7574865 GT were 0.110,0.431 and 0.459 in CD patients,while 0.097,0.450 and 0.453 in healthy controls.The frequency of G or T allele was 0.325 or 0.675,respectively in CD patients,while 0.322 or 0.678 in healthy controls.Conclusion： These findings indicate that no significant difference is observed between STAT4 polymorphism and Crohn＇s disease in the Chinese Han population.

关 键 词：信号转导及转录激活因子4 克罗恩病 单核苷酸多态性 汉族人群 

分 类 号：Q754[生物学—分子生物学]