华南地区汉族人群ABCG2基因多态性与原发性痛风的相关性  

Association of ABCG2 Gene Polymorphism with Primary Gout of Han Population in South China

作　　者：罗艺[1] 张洪德[1] 陈思祖[1] 徐文莉[1] 李康[1] 廖长征[1] LUO Yi,ZHANG Hongde, CHENG Sizu ,XU Wenli ,LI Kang,LIA0 Changzheng(Department of Clinical Central Laboratory,Longgang Center Hospital, Shenzhen, Guangdong 518116, China)

机构地区：[1]深圳市龙岗中心医院中心实验室,广东深圳518116

出　　处：《实验与检验医学》2018年第4期502-505,556,共5页Experimental and Laboratory Medicine

基　　金：深圳市龙岗区科技创新局课题(LG20150508123131)

摘　　要：目的探讨华南地区汉族人群三磷酸腺苷结合转运蛋白G超家族成员2基因(ATP-bindingcassette subfamily G member2,ABCG2)rs2231142位点基因多态性与原发性痛风发病的相关性,为该地区人群痛风早诊、早治提供合适的方法。方法采用高分辨率熔解曲线技术分别对426例华南地区原发性痛风患者和200例正常健康人群检测,并分析该位点基因型携带频率、等位基因频率与本地区人群原发性痛风发病的相关性。结果对照组和痛风组CC、A/C、AA基因型携带频率分别为:59.98%、31.02%、9.00%和30.05%、52.82%、17.14%,痛风患者AA基因型携带频率及A等位基因频率均显著高于对照组,差异有统计学意义(P<0.01);AA基因型携带者与CC基因型携带者相比,发病风险提高了3.802倍,A/C杂合型携带者发病风险提高了3.402倍,A等位基因携带者发病风险与C等位基因携带者相比提高了2.377倍;rs2231142位点AA+AC基因型人群的收缩压、尿素氮、肌酐和尿酸检测值均显著高于CC基因型人群。结论 ABCG2基因rs2231142位点与华南地区汉族人群原发性痛风发病有显著相关性,可将其作为该地区人群痛风早期诊断的一个遗传标记。Objective To investigate the association between the polymorphism of ATP-binding cassette subfamily G member2（ABCG2） gene locus rs2231142 and the incidence of primary gout in South China Han population,and to provides a suitable method for the early diagnosis and screening of gout for people in South China. Methods 426 cases of primary gout patients in South China and 200 normal healthy people were detected by high-resolution melting curve technique. The association of the frequency of genotype carrying,allele frequencies of the loci and the incidence of primary gout of the local population was analyzed.Results Genotype carrying frequencies of CC,A/C and AA genotypes in the control group and gout group were：59.98%,31.02%,9.00%,and 30.05%,52.82%,and 17.14%,respectively. The genotypic frequency of AA genotypes in gout patients and A,etc. The frequency of alleles was significantly higher than that of the control group,and the difference was statistically significant（P〈0.01）.The risk of developing AA carriers was 3.802 times,which was higher than that of CC carriers. The risk of A/C heterozygous carriers increased 3.402 times. The risk of A carriers was higher than that of C alleles（2.377 times）. In addition,the systolic blood pressure,creatinine,urea nitrogen,and uric acid of the rs2231142 locus were significantly higher than those of the CC genotype. Conclusion The rs2231142 locus of the ABCG2 gene single nucleotide polymorphism is significantly associated with primary gout in the Han Chinese population,which can be used as a genetic marker for early diagnosis of gout in this region.

关 键 词：高尿酸血症 单核苷酸多态性 痛风 rs2231142 

分 类 号：R589.7[医药卫生—内分泌] R596[医药卫生—内科学]