[人尿酸转运蛋白1基因第8外显子和第8内含子多态性与中国汉族人群原发性高尿酸血症的关联]

[Association of the exon 8 and intron 8 polymorphisms of the human urate transporter 1 gene with primary hyperuricemia in Chinese Han population].

作者信息

Meng Dong-mei, Han Lin, Miao Zhi-min, Li Chang-gui

机构信息

Shandong Provincial Key Laboratory of Metabolic Disease, Gout Laboratory of Qingdao Key Laboratory of Common Disease, the Affiliated Hospital of Qingdao University Medical College, Qingdao, Shandong, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):659-63. doi: 10.3760/cma.j.issn.1003-9406.2010.06.012.

DOI:10.3760/cma.j.issn.1003-9406.2010.06.012

PMID:21154327

Abstract

OBJECTIVE

To 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.

METHODS

Genomic 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).

CONCLUSION

These findings indicated that T1309C and -103A to G polymorphisms of the SLC22A12 gene were associated with primary HUA in Chinese Han population.

摘要

目的

研究人类尿酸转运蛋白1基因SLC22A12外显子8和内含子8多态性与中国汉族人群原发性高尿酸血症（HUA）的相关性。

方法

提取215例HUA患者和323例对照者的基因组DNA。采用聚合酶链反应（PCR）扩增SLC22A12基因的外显子8和内含子8。对PCR产物进行直接测序。检测单核苷酸多态性（SNP），并评估这些SNP与原发性HUA的相关性。

结果

（1）鉴定出两个SNP，分别为位于外显子8的T1309C（rs7932775）和位于内含子8的-103A>G。双位点连锁不平衡分析显示这两个SNP之间存在完全连锁不平衡（D'=1）。（2）两个SNP在HUA患者中的次要等位基因频率均为51.9%，与对照组（42.4%）相比有显著差异（P<0.01）。（3）HUA患者中GG+GA和CC+CT基因型频率显著高于对照组（80.0%对69.0%，P<0.01）。（4）GG+GA和CC+CT基因型个体的HUA风险增加1.79倍（OR=1.794，95%CI：1.19-2.70）。