STAT4基因启动子区域单核苷酸多态性与中国汉族人群中克罗恩病的相关性  

Association of single nucleotide polymorphism in the STAT4 gene promoter region with risk of Crohn's disease in the Chinese Han population

作　　者：庞智[1,2] 曹锴[3] 魏文祥[3] 皇甫照[2] 周春立[1] 沈必武[1] 

机构地区：[1]江苏省苏州市立医院北区消化内科,江苏省苏州市215008 [2]苏州市消化系疾病与营养研究中心,江苏省苏州市215008 [3]苏州大学医学部细胞生物学系,江苏省苏州市215123

出　　处：《世界华人消化杂志》2010年第29期3159-3163,共5页World Chinese Journal of Digestology

摘　　要：目的:分析信号转导子及转录激活因子4(STAT4)基因启动子区域单核苷酸多态性(SNP)位点rs16833431A>G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66例与健康对照者66名作为研究对象,抽提基因组DNA,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测其STAT4基因启动子区域多态位点rs16833431A>G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rs16833431多态位点AA、AG和GG基因型频率在病例组中分别为0.5450.303和0.152,在对照组中分别为0.576,0.27和0.152,A和G等位基因的频率在病例组分别为0.697和0.303,在对照组分别为0.712和0.288.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基因启动子区域rs16833431A>G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.AIM：To investigate the association of a single nucleotide polymorphism（SNP） in the promoter region（rs16833431 A 〉G） of the signal transducer and activator of transcription 4（STAT4） with the risk of Crohn＇s disease in the Chinese Han population.METHODS：Genomic DNA from 132 individuals of Chinese Han origin [including 66 patients with Crohn＇s disease（CD） and 66 healthy controls] was prepared for analysis of the rs16833431 A 〉G SNP.SNP genotypes were analyzed by polymerase chain reaction and restriction fragment length polymorphism（PCRRFLP）.A Chi-square test was used to determine the association of the rs16833431 A 〉G SNP with the risk of Crohn＇s disease.RESULTS：The frequencies of genotypes AA,AG and GG were 0.545,0.303 and 0.152 in Crohn＇s disease patients,and 0.576,0.273 and 0.152 in healthy controls,respectively.The frequencies of A and G allele was 0.697 and 0.303 in Crohn＇s disease patients,and 0.712 and 0.288 in healthy controls,respectively.CONCLUSION：These findings suggest that there is no significant association between the rs16833431 A〉 G SNP and the risk of Crohn＇s disease.

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：R574[医药卫生—消化系统]