Association of -45 C→G mutation at promoter of human urate transporter 1 gene and primary hyperuricemia
- VernacularTitle:hURAT1基因启动子-45位C→G突变与高尿酸血症的相关性研究
- Author:
Xiaomei MENG
;
Changgui LI
- Publication Type:Journal Article
- Keywords:
Anion transport proteins/GE;
Uric acid;
Mutation;
Hyperuricemia/GE
- From:
Journal of Chinese Physician
2009;11(5):587-590
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the association between -45C→G mutation at promoter of human urate transporter 1 gene and primary hyperuricemia. Methods The allele frequency and genotypo distribution of -45 C→G mutation at promoter of human urate trans-porter 1 gene were determined by PCR-RFLP in 217 patients with primary hyperuricemia and 419 normal controls. Results The frequencies of the G allele and CG genotype at promoter of human urate transporter 1 gene in patients were significantly higher than that in normal controls (P = 0. 031, P = 0.031). The levels of serum uric acid (UA) and triglyceride (TG) in subjects of CG genotype were significantly higher than those in the objects of CC genotype(t=3.058, t=3.699, P=0.002, P<0.001). There were no significant difference in the levels of total cholesterol (TC), fasting plasma glucose (FPG), urea nitrogen (BUN), creatinine (Cr) between the two groups (P>0.05). Conclusion The -45 C→G mutation at promoter of human urate transporter 1 gene may be related to primary hyperuricemia.
