Single Nucleotide Polymorphism at the rs2231142 Locus of the ABCG2 Gene and Susceptibility to Hyperuricemia in the Population of Han Chinese Men in Xinjiang
10.11969/j.issn.1673-548X.2024.05.008
- VernacularTitle:ABCG2基因启动子区rs2231142位点单核苷酸多态性与新疆维吾尔自治区汉族男性人群高尿酸血症易感性分析
- Author:
Xiayidai·Tuersun
1
;
Shuang HE
;
Hongguang SUN
Author Information
1. 830011 乌鲁木齐,新疆医科大学公共卫生学院
- Keywords:
Hyperuricemia;
ABCG2 gene;
Single nucleotide polymorphism;
Luciferase analysis
- From:
Journal of Medical Research
2024;53(5):32-37
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the relationship between single nucleotide polymorphisms at the rs2231142(G/T)locus of the ABCG2 gene and susceptibility to hyperuricemia.Methods A total of 865 male study subjects were collected from the Affiliated Hospital of Traditional Chinese Medicine of Xinjiang Medical University,the People's Hospital of Xinjiang Uygur Autonomous Region,and the First Affiliated Hospital of Xinjiang Medical University and other hospitals from 2018 to 2020,their blood samples were collected,and they were divided into hyperuricemia group(n=367)and healthy control group(n=498)according to blood uric acid levels.Multiplex fluorescent polymerase chain reaction(PCR)was used to detect the genotype of the rs2231142(G/T)locus of the ABCG2gene and to ob-serve the gene polymorphism in the two groups.The effect of this sequence on luciferase expression activity was confirmed by dual lucifer-ase reporter gene experiment.Results The values of uric acid,body mass index,glucose,creatinine,triglycerides,diastolic blood pres-sure,high density lipoprotein and low density lipoprotein in the hyperuricemia group were higher than those in the control group,and the differences were statistically significant(P＜0.05).The gene rs2231142(G/T)loci met the HWE equilibrium test of the two groups(P＞0.05),indicating that the locus is representative of the population.There were statistically significant differences in the distribution frequencies of GG,GT,and TT genotypes in the hyperuricemia group and healthy control group(x2=17.146,P＜0.001),and there were also statistically significant differences in the distribution frequencies of alleles G and T between the two groups(x2=19.115,P＜0.001).TT genotypes were expressed as risk factors for hyperuricemia in different genetic models(additive model OR=2.302,95％CI:1.472-3.603;explicit model OR=1.689,95％Cl:1.283-2.210;recessive model OR=1.867,95％CI:1.221-2.874).The differences in uric acid,glucose and triglycerides among the different genotype subgroups were statistically significant(P＜0.05).The results of the pair comparison showed that there were significant differences in uric acid,glucose and triglyceride levels between the G/T group and G/G group,T/T group and G/G group(P＜0.05).The level of uric acid in T/T group was the highest,the level of glucose and triglyceride in G/G group was the highest.The results of double luciferase activity assay showed that rs2231142(G/T)had promoter function;and the expression level of the recombinant plasmid luciferase reporter gene containing the G allele was higher than that of the re-combinant plasmid containing the T allele by 1.120 fold(P=0.012).Conclusion There is an association between single nucleotide polymorphisms at the rs2231142(G/T)locus of the ABCG2gene and susceptibility to hyperuricemia,and the T allele may be a risk factor for hyperuricemia.
