ABCG2基因rs2231142位点多态性与汉族女性痛风的相关性(英文)  

Association between gout and polymorphisms of rs2231142 in ABCG2 in female Han Chinese

作　　者：王琼[1] 王灿[1] 王希波 苗志敏[1] 崔莹[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 [2]诸城市人民医院内分泌科,山东诸城262200

出　　处：《现代生物医学进展》2014年第13期2437-2440,共4页Progress in Modern Biomedicine

基　　金：Natural Science Foundation of China(31371272)~~

摘　　要：目的:ABCG2基因第5外显子区单核苷酸多态性位点rs2231142与中国汉族男性痛风密切相关,基于痛风易感基因存在性别差异的考虑,本研究旨在探讨该单核苷酸多态性位点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例女性痛风患者和311例女性正常对照者,提取外周血基因组DNA,采用聚合酶链式反应(PCR技术),特异性扩增ABCG2基因所需要的目的片段并测序,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:rs2231142位点的CC、CA、AA基因型频率在两组间存在显著差异(x2=16.519,P<0.001),且痛风组中A等位基因频率显著高于正常对照组(分别为42.2%和29.3%,P<0.001,OR 1.76[95%CI:1.35-2.31])。结论:ABCG2基因第五外显子区rs2231142(C/A)位点的单核苷酸多态性与中国汉族女性人群痛风易感性密切相关,携带A等位基因的汉族女性人群有更高的痛风患病率。ABCG2基因首次被证实为中国汉族女性人群的痛风致病易感基因。Objective： The SNP rs2231142 which located in the exon5 of ABCG2 gene was found to be significantly associated with the development of gout in male Han Chinese. Because some genetic polymorphisms show gender differences in gout, we do this study to clarify the relevance between SNP rs2231142 and gout in female Han Chinese. Methods： A total of 185 female gout patients and 311 female controls were recruited, genomic DNA were extracted from peripheral blood leukocytes, after amplified the target gene seg ments of ABCG2, the PCR products were sequenced directly for genotype analysis. The genotype and allelic frequencies of the two groups were compared. Results： The frequencies of CC, CA and AA genotypes had a statistically difference between gout patients and controls（x2=16.519,P0.001）. The risk allele A of rs2231142 in gout patients is much higher than controls.（42.2 % vs. 29.3 %, P0.001, OR： 1.76 [95% CI： 1.35-2.31]）. Conclusion： The polymorphisms of rs2231142（C/A）in the exon5 of ABCG2 are significantly associated with the susceptibility to gout in female Han Chinese. Women who carry A allele of rs2231142 are more likely to get gout, and ABCG2 was first identified as a candidate gene associated with female gout in Chinese Han population.

关 键 词：ABCG2 痛风 单核苷酸多态性 中国汉族女性 

分 类 号：R589.7[医药卫生—内分泌]