Association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene with primary hyperuricemia in Chinese Han population.
- Author:
Dong-mei MENG
1
;
Lin HAN
;
Zhi-min MIAO
;
Chang-gui LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; genetics; Base Sequence; Case-Control Studies; China; ethnology; Ethnic Groups; genetics; Exons; genetics; Female; Gene Frequency; Genotype; Humans; Hyperuricemia; genetics; Introns; genetics; Linkage Disequilibrium; Male; Middle Aged; Molecular Sequence Data; Organic Anion Transporters; genetics; Organic Cation Transport Proteins; genetics; Polymorphism, Single Nucleotide; genetics
- From: Chinese Journal of Medical Genetics 2010;27(6):659-663
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene SLC22A12 with primary hyperuricemia (HUA) in Chinese Han population.
METHODSGenomic DNA from 215 individuals with HUA and 323 controls was extracted. The exon 8 and intron 8 of the SLC22A12 gene was amplified by polymerase chain reaction (PCR). PCR product was sequenced directly. Single nucleotide polymorphisms (SNPs) were detected and the association of the SNPs with primary HUA was assessed.
RESULTS(1) Two SNPs were identified, they were T1309C located in exon 8 (rs7932775) and -103A to G located in intron 8. Pairwise linkage disequilibrium analysis displayed an absolute linkage disequilibrium between the two SNPs (D'= 1). (2) The minor allele frequencies for both SNPs were 51.9% in HUA patients, which were significantly different from that of controls (42.4%)(P< 0.01). (3) The genotype frequencies of GG+ GA and CC+ CT in HUA patients were significantly higher than that in controls (80.0% vs. 69.0%, P< 0.01). (4) Individuals of both GG+ GA and CC+ CT genotypes had 1.79 fold increase of HUA risk (OR= 1.794, 95%CI: 1.19-2.70).
CONCLUSIONThese findings indicated that T1309C and -103A to G polymorphisms of the SLC22A12 gene were associated with primary HUA in Chinese Han population.
