The association between single-nucleotide polymorphisms of hURAT1 and hyperuricemia in Han Chinese
10.3760/cma.j.issn.0578-1426.2010.11.009
- VernacularTitle:人尿酸盐转运子1基因多态性与中国汉族人群高尿酸血症相关性研究
- Author:
Lin HAN
;
Zhaotong JIA
;
Changgui LI
- Publication Type:Journal Article
- Keywords:
Hyperuricemia;
Polymorphism,single nucleotide;
URAT1 protein,human
- From:
Chinese Journal of Internal Medicine
2010;49(11):925-929
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the association between hURAT1 gene single nucleotide polymorphism(SNP) and primary hyperuricemia(HUA). Methods A total of 215 patients with HUA and 323 healthy subjects were chosen to investigate SNP of hURAT1. Exon 2 to 4 and flanking introns of the hURAT1 gene in patients and control individuals were screened with PCR. The relationship between SNP of hURAT1 gene with HUA was studied with statistical analysis. Results The frequency of AA/AG genotype was significantly increased in HUA patients as compared with that in healthy controls( 11.6% vs 3.7% ,P =3.81 × 10-4). Allele A of hURAT1 intron 3, 11 G ＞A was found significantly higher in the group of HUA patients, being detected in 6.0% of the HUA patients alleles and in 1.9% of the healthy control alleles (P =2.66 × 10-5 ). Those carrying the low frequency AA/AG genotype had a risk effect on the morbidity of HUA and the odds ratio for the HUA patients versus controls was 3.41 with AA/AG genotype versus GG genotype( OR = 3.41,95% CI = 1.67 - 6.95 ). The HT4 haplotype, which carried the intron 3,11A allele, was associated with a significantly increased risk of HUA(69.44% vs 30.56% ,P ＜ 0.001). Conclusion The SNP of 11G ＞A in the intron 3 of hURAT1 gene was apparently associated with HUA, thus suggesting the genetic effect of hURAT1 gene in the pathogenesis of HUA.
