葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(G/C)及rs6850166(G/A)位点的单核苷酸多态性(SNP)与汉族女性痛风相关性研究(英文)  

Association of the Polymorphisms of rs13124007(G/C), rs6850166(G/A) in the Promoter of GLUT9 with Gout in Chinese Han Female

作　　者：王希波[1] 王灿[1] 王琼[1] 李长贵[1] 

机构地区：[1]青岛大学医学院附属医院,山东青岛266003

出　　处：《现代生物医学进展》2013年第13期2493-2497,共5页Progress in Modern Biomedicine

基　　金：Natural Science Foundation of China(81070686)~~

摘　　要：目的:探讨葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性之间的相关性。方法:选取185例痛风患者和300例正常对照者,提取基因组DNA,采用聚合酶链式反应(PCR技术),特异性扩增GLUT9基因所需要的目的片段,对扩增的目的片段进行测序后,比较痛风组和正常对照组的基因型频率及等位基因频率分布情况。结果:女性痛风组中GLUT9基因的启动子区rs13124007和rs6805116两个位点的基因型频率分布与正常对照组相比,统计学上无明显的差异(X2=0.906,P=0.636;X2=3.335,P=0.189),rs13124007 SNP位点的C等位基因频率和rs6850166SNP位点的A的等位基因频率与正常对照组相比也无明显的统计学差异(X2=0.506,P=0.477;X2=3.268,P=0.071)。结论:葡萄糖转运体9(GLUT9)基因启动子区的rs13124007(C/G)及rs6850166(A/G)位点的单核苷酸多态性(SNP)与中国汉族女性人群痛风易感性无明显的相关性。Objective： To investigate the relationship between gout and polymorphisms of rs13124007 and rs6850166 in the promoter of GLUT9 in Chinese Han females.Methods： 184 gout patients and 306 healthy controls were entrolled.Specifically amplify the target fragments of GLUT9 gene was performed by polymerase chain reaction（PCR） technology.PCR product was sequenced directly.The genotype frequencies and allelic frequencies of the two groups were compared.Results： There was no statistical difference for rs13124007（G/C） and rs6850166（G/A） genotype frequencies between the gout patients and controls（X 2 =0.906,P=0.636;X 2 =3.335,P=0.189）.The C allele of rs13124007 did not appear as the risk allele for susceptibility to gout（X 2 =0.506,P=0.477,OR=1.16,[95% CI 0.77-1.76]）,and the A allele of rs6850166 in the gout group were not significantly higher than that in the controls（X 2 =3.268,P=0.071,OR=1.50,[95% CI 0.96-2.34]）.Conclusion： The polymorphisms of rs13124007（G/C）,rs6850166（G/A） in the promoter of GLUT9 are not obviously associated with susceptibility to gout in Chinese Han females.

关 键 词：GLUT9 痛风 单核苷酸多态性 汉族女性人群 

分 类 号：R589.7[医药卫生—内分泌]