Human urate transporter 1 promoter polymorphisms and hyperuricemia in Chinese Han people
10.3760/cma.j.issn.1000-6699.2012.01.012
- VernacularTitle:中国汉族人尿酸盐转运蛋白1基因启动子区多态性与原发性高尿酸血症的关联研究
- Author:
Lin HAN
;
Qing YU
;
Dongming HU
;
Teng ZHOU
;
Aiqing ZHANG
;
Changgu LI
- Publication Type:Journal Article
- Keywords:
Human urate transporter 1;
Promoter;
Polymorphism,single-nucleotide;
Hyperuricemia
- From:
Chinese Journal of Endocrinology and Metabolism
2012;28(1):36-39
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo analyze the association of human urate transporter 1 ( hURAT1 ) gene promoter single-nucleotide polymorphisms(SNPs) with primary hyperuricemia ( HUA ) in Chinese Han people.MethodsA total of 215 patients with HUA and 323 healthy subjects were chosen to be investigated of SNP of hURAT1 promoter by PCR and sequencing.ResultsFive SNPs were identified,including-454A/T,-434T/C,-382C/T,-87C/T,and + 118G/A.Pairwise linkage disequilibrium analysis displayed a high linkage disequilibrium between the five SNPs ( r2 =0.99).In HUA group,the heterozygous genotypos ( AT,CT,CT,CT,AG ) frequencies were significantly lower than those in control group ( P＜0.05 ).Logistic regression analysis showed that the heterozygosis genotypes ( AT,CT,CT,CT,AG) were protective factors of HUA ( OR 0.68-0.75 ).The minor allele ( T,C,T,T,A ) frequencies for both SNPs were significantly different between two groups ( P =0.022,P =0.038 ).ConclusionThese findings indicate that -454A/T,-434T/C,-382C/T,-87C/T,and + 118G/A SNPs of hURAT1 gene promoter area are associated with HUA in Chinese Han population.
