中文摘要：

目的 研究人尿酸盐转运子1（hURAT1）基因多态性与原发性高尿酸血症的相关性.方法 选择原发性高尿酸血症患者（病例组）215例,正常对照组323例.采用PCR方法分别扩增hURAT1基因第2、3、4外显子及外显子内含子交界处,分析该区域内多态性位点与原发性高尿酸血症的相关性.结果 在中国汉族人群hURAT1基因中,共发现5个多态性位点.其中,在第3内含子区发现1个新的多态性位点11 G＞A.病例组AA＋AG基因型频率明显高于对照组（11.6%比3.7%,P=3.81×10-4）;突变型等位基因（A等位基因）频率明显高于对照组（6.0%比1.9%,P=2.66×10-5）.A等位基因构成的基因型AA＋AG基因型使高尿酸血症发病风险增加了3.41倍（OR=3.41,95% CI=1.67～6.95）.单倍型分析显示,包含第3内含子11 G＞A突变型A等位基因的单倍型在病例组中的频率显著高于对照组,与原发性高尿酸血症发病危险性密切相关（69.44%比30.56%,P＜0.001）.结论 hURAT1基因第3内含子11 G＞A多态性与中国汉族人群原发性高尿酸血症密切相关.

英文摘要：

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.