中华内科杂志
中華內科雜誌
중화내과잡지
CHINESE JOURNAL OF INTERNAL MEDICINE
2010年
11期
925-929
,共5页
高尿酸血症%多态性,单核苷酸%人尿酸盐转运子1
高尿痠血癥%多態性,單覈苷痠%人尿痠鹽轉運子1
고뇨산혈증%다태성,단핵감산%인뇨산염전운자1
Hyperuricemia%Polymorphism,single nucleotide%URAT1 protein,human
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.
目的 研究人尿痠鹽轉運子1(hURAT1)基因多態性與原髮性高尿痠血癥的相關性.方法 選擇原髮性高尿痠血癥患者(病例組)215例,正常對照組323例.採用PCR方法分彆擴增hURAT1基因第2、3、4外顯子及外顯子內含子交界處,分析該區域內多態性位點與原髮性高尿痠血癥的相關性.結果 在中國漢族人群hURAT1基因中,共髮現5箇多態性位點.其中,在第3內含子區髮現1箇新的多態性位點11 G＞A.病例組AA+AG基因型頻率明顯高于對照組(11.6%比3.7%,P=3.81×10-4);突變型等位基因(A等位基因)頻率明顯高于對照組(6.0%比1.9%,P=2.66×10-5).A等位基因構成的基因型AA+AG基因型使高尿痠血癥髮病風險增加瞭3.41倍(OR=3.41,95% CI=1.67～6.95).單倍型分析顯示,包含第3內含子11 G＞A突變型A等位基因的單倍型在病例組中的頻率顯著高于對照組,與原髮性高尿痠血癥髮病危險性密切相關(69.44%比30.56%,P＜0.001).結論 hURAT1基因第3內含子11 G＞A多態性與中國漢族人群原髮性高尿痠血癥密切相關.
목적 연구인뇨산염전운자1(hURAT1)기인다태성여원발성고뇨산혈증적상관성.방법 선택원발성고뇨산혈증환자(병례조)215례,정상대조조323례.채용PCR방법분별확증hURAT1기인제2、3、4외현자급외현자내함자교계처,분석해구역내다태성위점여원발성고뇨산혈증적상관성.결과 재중국한족인군hURAT1기인중,공발현5개다태성위점.기중,재제3내함자구발현1개신적다태성위점11 G＞A.병례조AA+AG기인형빈솔명현고우대조조(11.6%비3.7%,P=3.81×10-4);돌변형등위기인(A등위기인)빈솔명현고우대조조(6.0%비1.9%,P=2.66×10-5).A등위기인구성적기인형AA+AG기인형사고뇨산혈증발병풍험증가료3.41배(OR=3.41,95% CI=1.67～6.95).단배형분석현시,포함제3내함자11 G＞A돌변형A등위기인적단배형재병례조중적빈솔현저고우대조조,여원발성고뇨산혈증발병위험성밀절상관(69.44%비30.56%,P＜0.001).결론 hURAT1기인제3내함자11 G＞A다태성여중국한족인군원발성고뇨산혈증밀절상관.
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.
