新疆地区维吾尔族和汉族人群ABCG2基因rs2231142位点多态性与高尿酸血症的相关性

Correlation of the polymorphism of rs2231142 loci in ABCG2 gene with hyperuricemia in Han and Uygur population

目的探讨新疆地区维吾尔族和汉族人群ABC转运蛋白2（ABCG2）基因位点rs2231142的单核苷酸多态性（SNP）与高尿酸血症的关系。方法选取2013年2-12月体检的维吾尔族和汉族人群作为研究对象,并依据尿酸水平以及纳入和排除标准分为高尿酸血症组和健康对照组;采集血液样本,提取全血基因组DNA,PCR扩增各组ABCG2基因rs2231142位点,并对扩增产物用多重高温连接酶检测反应（i MLDR）进行SNP检测。结果总人群中汉族尿酸水平高于维吾尔族（t=10.595,P〈0.05）;不同基因型（χ^2=46.007,P〈0.05）及等位基因（χ^2=17.924,P〈0.05）在两民族间的分布差异有统计学意义;维吾尔族和汉族高尿酸血症组尿酸水平均高于健康对照组（χ维^2=7.796,P〈0.05;χ汉^2=9.963,P〈0.05）,两民族高尿酸血症组TT＋GT基因型（χ维^2=12.02,P〈0.05;χ汉^2=12.28,P〈0.05）以及T等位基因（χ维^2=8.625,P〈0.05;χ汉^2=12.05,P〈0.05）频率均显著高于健康对照组;Logistic回归分析发现GT＋TT基因型分别使得两民族患高尿酸血症的危险性上升了2.45和1.103倍（维吾尔族OR=2.45,95%CI=1.187-5.054,P〈0.05,汉族OR=1.103,95%CI=1.00-1.026,P〈0.05）。结论 ABCG2基因rs2231142位点SNP与维吾尔族和汉族高尿酸血症有一定关联,T等位基因可能是高尿酸血症的危险因素,G等位基因则可能是保护因素。

Objective To investigate the correlation of the single nucleotide polymorphism（ SNP） of rs2231142 loci in ATP-binding cassette superfamily G member 2（ ABCG2） gene with hyperuricemia in Han and Uygur population. Methods Blood samples from 421 Uygur and 1 291 Han persons were collected during February to December 2013,and divided into hyperuricemia and healthy control groups baesd on the levels of serum uric acid,and inclusion and exclusion criteria. Then,the genomic DNA was extracted from the blood sample,and the rs2231142 loci in ABCG2 gene was amplified by PCR. The SNP of the obtained products was detected by the improved multiple ligase detection reaction（ i MLDR） method. Results The serum uric acid levels in the Han were significantly higher than that in the Uygur（ t = 10. 595,P〈0. 05）. The serum uric acid levels in the hyperuricemia patients of the Uygur and the Han all were significantly higher than that in the corresponding healthy control（ χ^2= 7. 796,P〈0. 05; χ^2= 9. 963,P〈0. 05）. There was significant difference in the distribution of genotypes（ χ^2= 46. 007,P〈0. 05） and alleles（ χ^2= 17. 924,P〈0. 05） between the Uygur and the Han. The frequencies of genotypes TT ＋ GT（ χ^2= 12. 02,P〈0. 05; χ^2= 12. 28,P〈0. 05） and T allele（ χ^2= 8. 625,P〈0. 05; χ^2= 12. 05,P〈0. 05） in the hyperuricemia patients of the Uygur and the Han were significantly higher than that in the corresponding healthy control. Logistic regression analysis showed that genotypes GT ＋ TT increased the risk of hyperuricemia in the Uygur（ OR = 2. 45,95% CI = 1. 187-5. 054,P〈0. 05） and the Han（ OR = 1. 103,95% CI = 1. 00-1. 026,P〈0. 05） significantly. Conclusion The SNP of rs2231142 loci in ABCG2 gene is correlated with the development of hyperuricemia in Han and Uygur population,and T allele may be a risk factor of hyperuricemia,while G allele a protection factor.