ABCG2、PDZK1、SLC22A12基因交互效应与乌鲁木齐市汉族男性高尿酸血症的关联性研究OACSTPCD
Association of ABCG2,PDZK1,SLC22A12 gene polymorphisms with hyperuricemia in the males of Han ethnic group in Urumqi
目的:探讨rs2231142 位点(ABCG2 基因)、rs12129861 位点(PDZK1 基因)、rs505802 位点(SLC22A12基因)的基因多态性与乌鲁木齐市汉族男性高尿酸血症的相关性,探索高尿酸血症发病的分子机制.方法:选取334例高尿酸血症汉族男性为高尿酸血症组,488例健康汉族男性为对照组.对其外周静脉血的采集,然后进行相关生化指标检测,采用多重连接酶检测反应进行基因检测,分析ABCG2、PDZK1、SLC22A12不同基因型与高尿酸血症的关联性.运用多因素Logistic回归分析基因多态性和基线资料对高尿酸血症发病的影响,同时用多元线性回归探讨不同基因型与尿酸浓度之间的联系.结果:高尿酸血症组的尿素氮、肌酐、甘油三酯、舒张压、BMI、高密度脂蛋白和低密度脂蛋白均显著高于对照组,差异具有统计学意义(P<0.05).两组的年龄、血糖、收缩压差异均无统计学意义(P>0.05).调整年龄、规律运动等多种混杂因素后,多因素非条件Logistic回归分析结果表明在乌鲁木齐市汉族男性人群中rs12129861位点基因型和rs2231142位点基因型与高尿酸血症有显著关联的影响因素有:携带ABCG2基因的GT+TT基因型时,其出现高尿酸血症的风险是对照组的1.767倍(95%CI:1.332,2.343,P<0.05);PDZK1基因的GA+AA基因型的携带者,其出现高尿酸血症的风险是对照组的0.649倍(95%CI:0.484,0.810,P<0.05).交互作用分析结果发现这3个位点交互作用与高尿酸血症的发生有联系(P<0.05).rs505802位点基因型与高尿酸血症的关联性不显著(P>0.05).结论:在乌鲁木齐市汉族男性人群中rs2231142位点(ABCG2基因)和rs12129861位点(PDZK1基因)基因多态性在高尿酸血症发生过程中起着主导作用(P<0.05),T等位基因的存在可能增加高尿酸血症发生风险,因此可视作一种危险因素,而A等位基因可能是保护因素.
Objective:To investigate the association between rs2231142 locus of ABCG2 gene,rs12129861 locus of PDZK1 gene and rs505802 locus of SLC22A12 gene and hyperuricemia in the males of Han ethnic group in Urumqi.Methods:A total of 334 males of Han ethnic group with hyperuricemia who visited the First Affiliated Hospital of Xinjiang Medical University were selected as the hyperuricemia group,and 488 healthy males of Han ethnic group from the same hospital were selected as the control group.Peripheral venous blood samples were obtained to biochemical indicators.Genetic testing was performed using mul-tiple ligase detection reactions,and the association between different genotypes of ABCG2,PDZK1,SLC22A12 and hyperurice-mia was analyzed.Results:The blood urea nitrogen,creatinine,triglyceride,high density lipoprotein(HDL),low density lipo-protein(LDL),diastolic blood pressure and the BMI of both groups were significantly higher than that of the control group(P<0.05);no notable disparities were observed in terms of age.There were no appreciable variations in blood glucose and systolic blood pressure between the two groups(P>0.05).Following adjusting for age,regular exercise and other confounding factors,multivariate unconditional logistic regression analysis showed that the rs12129861 and rs2231142 genotypes in the Urumqi Han population with hyperuricemia were significantly different from the control group(P<0.05).Individuals with the GT+TT geno-type of ABCG2 gene were observed to have a 1.767 times increased risk of hyperuricemia compared to the control group(95%CI:1.332,2.343,P<0.05).Individuals with the GA+AA genotype of the PDZK1 gene were found to have a 0.649 times greater risk of hyperuricemia compared to the control group(95%CI:0.484,0.810,P<0.05).Interaction analysis revealed an association be-tween these three loci interactions and the development of hyperuricemia(P<0.05).There was no significant association between rs505802 genotype and hyperuricemia(P<0.05).Conclusion:The rs2231142 locus of ABCG2 gene and rs12129861 locus of PDZK1 gene are the main risk factors for hyperuricemia in Urumqi Han male population(P<0.05).Allele T may be a risk factor for hyperuricemia,while allele A may be a protective factor.
李珍珍;陈昱名;刘璐;何爽;夏依代·图尔荪;苗蕾
新疆医科大学公共卫生学院,新疆 乌鲁木齐 830000新疆医科大学第一附属医院,新疆 乌鲁木齐 830000
临床医学
高尿酸血症基因多态性危险因素关联性分析
HyperuricemiaGenetic polymorphismsRisk factorAssociation analysis
《海南医学院学报》 2024 (006)
Toll样受体炎性通路中相关基因功能区SNPs与痛风的关联研究及其民族异质性
421-427 / 7
This study was supported by National Natural Science Foundation of China(81460153) 国家自然科学基金资助项目(81460153)
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