银川地区尿酸转运相关基因多态性与高尿酸血症相关性研究

目的 分析银川地区居民尿酸水平的影响因素,探讨溶质载体家族30成员3(SLC30A3)基因多态性与高尿酸血症发生的关系.方法 选取高尿酸血症患者614例,同期年龄和性别构成相当的尿酸正常健康体检者600例为对照组.使用Haploview软件筛选SLC30A3基因tagSNP,共得到2个SNP位点(rs13267319,rs24628779),分析SLC30A3基因多态性与银川地区居民高尿酸血症的关系.结果 银川地区居民中男性受试者尿酸水平与BMI值、腰围、收缩压、GLU呈正相关,与HDL-C呈负相关;女性受试者尿酸水平与腰围、GLU、TC、TG呈正相关,与HDL-C呈负相关.多因素Logistic回归分析显示:BMI值、收缩压、舒张压、TG、LDL-C、Cre是高尿酸血症的独立危险因素,HDL-C是高尿酸血症的保护因素.SLC30A3基因rs13267319位点在高尿酸血症组AG型和AA型比例均明显低于对照组,差异具有统计学意义(P<0.05);与GG型相比,AG型和AA型患高尿酸血症的危险性均明显降低;等位基因A相对于G对高尿酸血症有保护作用.SLC30A3基因rs24628779位点在高尿酸血症组CT型和TT型比例均明显高于对照组,差异具有统计学意义(P<0.05);与CC型相比,CT型和TT型患高尿酸血症的危险性均明显增高.等位基因C相对于T对高尿酸血症有促进作用.结论 SLC30A3基因rs13267319,rs24628779位点与银川地区居民高尿酸血症的发病机制存在明显关联.

On the Correlation between Uric Acid Transport Related Gene Polymorphism and Hyperuricemia in Yinchuan

Objective To analyze the influencing factors of uric acid levels in the residents,and to investigate the relationship between gene polymorphism of member 30 A3 (SLC30 A3 )in solute carrier family and hyperuricemia. Method A total of 614 hyperuricemia patients were enrolled,and 600 healthy people with normal uric acid were selected as the control group. SLC30A3 gene tagSNP was screened by Haploview software, and 2 SNP loci (rs13267319 and rs24628779 ) were obtained. The relationship between SLC30A3 gene polymorphism and hyperuricemia in the residents was analyzed. Results In male subjects of the local residents, uric acid level was positively correlated with BMI value,waist circumference,systolic blood pressure and GLU, and was negatively correlated with HDL-C. In female subjects,uric acid level and waist circumference,GLU,TC and TG were positively correlated,and negatively correlated with HDL-C. Multivariate Logistic regression analysis showed that BMI,systolic blood pressure,diastolic blood pressure,TG,LDL-C and Cre were independent risk factors of hyperuricemia,and HDL-C was the protective factor of hyperuricemia. Gene types AG and AA in SLC30A3 gene rs13267319 locus of the hyperuricemia group were significantly lower than those of the controlgroup,and the difference was statistically significant (P<0. 05 ). Compared with type GG,the risk of hyperuricemia in the subjects with type AG and type AA significantly decreased,therefore,allele A had protective effect on hyperuricemia. Gene types CT and TT in SLC30A3 gene rs24628779 locus of the hyperuricemia groupwere significantly higher than those of the control group,and the difference were statistically significant (P<0. 05). Compared with type CC,the risk of hyperuricemia in the subjects with type CT and type TT significantly increased,thus allele C could promote hyperuricemia. Conclusion The rs13267319 and rs24628779 loci of SLC30A3 gene are closely related to the pathogenesis of hyperuricemia in this region.