摘要
目的探究内蒙古自治区锡林郭勒盟高尿酸血症(hyperuricemia,HUA)人群基因多态性及遗传易感性。方法收集2024年锡林郭勒盟蒙医医院177名HUA患者和150名健康人群的一般资料、尿酸(uric acid,UA)、尿素(urea,UREA)、肌酐(creatinine,CREA)、血糖(glucose,GLU)、三酰甘油(triglycerides,TG)、总胆固醇(total cholesterol,TC)等指标。采用飞行时间质谱技术检测ABCG2(rs3114018、rs2622626、rs2231142)、SLC2A9(rs11722228、rs3775948)、WDR1(rs2241480)、PKD2(rs2725220)基因位点的多态性,并分析基因型及等位基因分布、连锁不平衡与单倍型。结果HUA组年龄(Z=-7.195)、UA(Z=-15.418)、CREA(Z=-9.059)、UREA(Z=-4.113)、GLU(Z=-10.284)、TG(Z=-9.882)、TC(Z=-5.271)与健康组间的差异均有统计学意义(均P<0.001)。rs2231142、rs3114018、rs2725220位点基因型及等位基因在HUA组与健康组间的差异均有统计学意义(均P<0.05)。遗传模型风险预测显示,rs2231142(OR=2.69,P=0.004)、rs3114018(OR=2.51,P<0.001)位点隐性纯合子患病风险高于显性模型,rs2725220(OR=1.72,P=0.016)位点显性模型CC纯合子增加患病风险。连锁不平衡显示,ABCG2基因rs2622626与rs3114018具有强连锁特征(连锁不平衡系数=0.93,决定系数=0.73)。单倍型TAGC(OR=1.987,P=0.016)、TACC(OR=2.016,P<0.001)、GAGC(OR=0.681,P=0.026)在HUA组与健康组间的差异均有统计学意义。结论单倍型TAGC、TACC及ABCG2基因rs2231142位点、rs3114018位点、PKD2基因rs2725220位点的易感基因型可能是本地区HUA患病的危险因素,单倍型GAGC可能是HUA患病的保护因素。
Objective To investigate genetic polymorphisms and hereditary susceptibility to hyperuricemia(HUA)in the Xilingol League population of Inner Mongolia Autonomous Region.Methods General information and laboratory indices,including uric acid(UA),urea(UREA),creatinine(CREA),glucose(GLU),triglycerides(TG),and total cholesterol(TC),were collected from 177 HUA patients and 150 healthy controls treated at the Xilingol League Mongolian Medicine Hospital in 2024.Time-of-flight mass spectrometry was used to genotype ABCG2(rs3114018,rs2622626,rs2231142),SLC2A9(rs11722228,rs3775948),WDR1(rs2241480),and PKD2(rs2725220).Genotype and allele distributions,linkage disequilibrium,and haplotypes were analyzed.Results Age(Z=-7.195),UA(Z=-15.418),CREA(Z=-9.059),UREA(Z=-4.113),GLU(Z=-10.284),TG(Z=-9.882),and TC(Z=-5.271)differed significantly between the HUA and control groups(all P<0.001).The genotype and allele distributions at rs2231142,rs3114018 and rs2725220 differed significantly between groups(all P<0.05).Genetic risk prediction models revealed that individuals with homozygous recessive genotypes at rs2231142(OR=2.69,P=0.004)and rs3114018(OR=2.51,P<0.001)loci exhibited a higher disease risk compared to those with dominant models,whereas the CC homozygotes in the dominant model of the rs2725220 locus showed an increased disease risk(OR=1.72,P=0.016).Linkage disequilibrium analysis showed strong linkage between ABCG2 rs2622626 and rs3114018(D-prime=0.93,R-squared=0.73).The haplotypes TAGC(OR=1.987,P=0.016),TACC(OR=2.016,P<0.001),and GAGC(OR=0.681,P=0.026)exhibited significantly different distributions between the two groups.Conclusions The haplotypes TAGC and TACC,as well as the ABCG2 variants rs2231142 and rs3114018 and the PKD2 variant rs2725220,may be risk factors for HUA in this region,whereas the haplotype GAGC may be protective.
作者
李晓宏
贾云晰
姚超
李敏
薛慧婷
扈瑞平
LI Xiaohong;JIA Yunxi;YAO Chao;LI Min;XUE Huiting;HU Ruiping(College of Basic Medical Sciences,Inner Mongolia Medical University,Hohhot 010110,China;Mongolian Medicine Hospital of Xilin Gol League,Xilinhot 026000,China)
出处
《中华疾病控制杂志》
北大核心
2025年第12期1473-1478,共6页
Chinese Journal of Disease Control & Prevention
基金
内蒙古自然科学基金(2025MS08075)
2024年内蒙古自治区草原英才创新团队滚动支持项目
内蒙古医科大学面上项目(YKD2023MS044)
内蒙古医科大学2023年校级重点科研课题(YKD2023ZD003)
大学生创新创业训练计划资助项目(101322025134)。
