新疆地区维吾尔族和汉族人群SLC2A9基因rs938557C/T多态性与高尿酸血症的相关性

Association between SLC2A9 gene rs938557 loci polymorphism and hyperuricemia in Han and Uygur population in the Xinjiang Uygur Autonomous Region

目的研究新疆地区维吾尔族(维族)、汉族人群可溶性载体2家族成员9基因(SLC2A9)rs938557 C/T多态性的差异及该基因位点多态性与高尿酸血症的相关性。方法纳入2013年新疆医科大学附属医院汉族、维族高尿酸血症患者和尿酸正常者共3 644例作为研究对象,其中汉族1 278例,维族2 366例;检测研究对象血清尿酸(UA)、三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)和空腹血糖(FBG)等指标;用多重高温连接酶检测反应(i MLDR)检测SLC2A9基因rs938557位点多态性。结果汉族人群UA、TC、HLD-C和LDL-C均高于维族(P均<0.05),而体质指数(BMI)、收缩压(SBP)和TG均低于维族(P均<0.05)。维族SLC2A9基因rs938557位点各基因型频率分别为CC=60.8%、CT=34.5%、TT=4.7%,汉族分别为CC=45.7%、CT=41.9%、TT=12.4%,维、汉族各基因型频率差异有统计学意义(χ2=113.637,P=0.000);维族SLC2A9基因rs938557位点T和C等位基因的频率分别为78%和22%,汉族分别为66.6%和33.4%,差异有统计学意义(χ2=112.516,P=0.000)。汉族人群TT基因型频率(12.4%)及T等位基因频率(33.4%)均高于维族(4.7%和22%),差异均有统计学意义(P均<0.05)。按维、汉族SLC2A9基因rs938557位点CC+CT基因型与TT基因型分组,各生化指标间差异均无统计学意义(P均>0.05)。维、汉族高尿酸血症组和尿酸正常组SLC2A9基因rs938557位点基因型和等位基因频率差异均无统计学意义(P均>0.05)。排除基因与BMI、性别、血压的交互作用后,未发现维、汉族SLC2A9基因rs938557位点与尿酸水平和高尿酸血症之间的相关性(P>0.05)。结论 SLC2A9基因rs938557位点多态性虽然存在一定的民族差异,但与高尿酸血症之间没有相关性。

Objective To investigate the differences of solute carrier family 2, member 9 （SLC2A9） gene rs938557 loci polymorphism between Han and Uygur population in Xinjiang Uygur Autonomous Region, and the association between the polymorphism and hyperuricemia. Methods 3 644 subjects with hyperuricemia or normal serum uric acid（UA） levels, including 1 278 cases of Han population and 2 366 cases of Uygur population, from the Affiliated Hospital of Xinjiang Medical University during 2013, were enrolled in this study. A physical examination was performed and the blood sample was collected for each subject. The levels of serum UA, triglyceride （TG）, total cholesterol（ TC ）, high-density lipoprotein cholesterol （HDL-C）, low-density lipoprotein cholesterol （LDL-C） and fasting blood glucose（FBG） were detected by biochemical methods, and the polymorphism of SLC2A9 gene rs938557 loci by the improved multiple ligase detection reaction （iMLDR） method. Results The levels of serum UA, TC, HLD-C and LDL-C in Han population were significantly higher than those in Uygur population（ P 〈 0.05 ）, while body mass index（ BMI）, systolic blood pressure（SBP） and serum TG level in reverse. The genotype distributions of SLC2A9 gene rs938557 loci were 60.8% of CC, 34.5% of CT and 4.7% of TF for Uygur population and 45.7% of CC, 41.9% of CT and 12.4% of TT for Han population, and there was statistically significant difference between them（x2 = 113. 637, P =0. 000）. The alleles distributions of SLC2A9 gene rs938557 loci were 78% of T and 22% of C for Uygur population and 66.6% of T and 33.4% of C for Han population, and there was also significant difference between them （X2 = 112. 516, P =0.000）. The frequencies of TT genotype（ 12.4% ） and T allele（33.4% ） in Han population were significantly higher than those in Uygur population （4.7 % for TF genotype and 22% for T allele） （ P 〈 0.05 ）. There was no significant difference in serum FBG, UA, TC, TG, LDL-C and HDL-C levels between CC ＋ CT genotype and TT genotype in either Uygur population or Han population（ P 〉 0.05 ）. There was also no significant difference in the genotype and allele frequencies of SLC2A9 gene rs938557 loci between the patients with hyperuricemia and the cases with normal serum UA levels in either Uygur population or Han population（ P 〉 0.05 ）. Moreover, after adjusting the influence of BMI, gender and blood pressure, the association between SLC2A9 gene rs938557 loci polymorphism and hyperuricemia in either Han population or Uygur population was not found （ P 〉 0.05 ）. Conclusion The polymorphisms of SLC2A9 gene rs938557 loci may have the ethnic difference, but are not associated with hyperuricemia.