ABCG2基因rs2231142位点多态性与维吾尔族、汉族尿酸代谢及肾脏功能的相关性研究

发布时间：2018-07-08 14:29

本文选题：高尿酸血症 + ABCG2基因　；参考：《新疆医科大学》2015年硕士论文

【摘要】：目的:探讨ABCG2基因rs2231142位点多态性与维吾尔族、汉族尿酸代谢及肾脏功能的相关性。方法:收集2013年2月-12月在新疆医科大学第一附属医院体检中心健康体检者,年龄20岁-70岁,维吾尔族(以下简称维族)2412名,汉族1289名,并依据尿酸水平以及纳入和排除标准分为两组;采集血液样本并进行各项生化指标的检测,然后提取全血基因组DNA,PCR扩增ABCG2基因片段,扩增产物用多重高温连接酶检测反应(iMLDR)进行单核苷酸多态性检测并统计分析ABCG2基因rs2231142位点多态性与维吾尔族、汉族尿酸代谢及肾脏功能的相关性。结果:(1)汉族血尿酸水平高于维族(P0.05);维、汉族高尿酸血症组的血尿酸水平均高于正常组(P0.05),且估计的肾小球滤过率与血尿酸相关(P0.05)。(2)维、汉族血尿酸、肌酐、尿素氮、估计的肾小球滤过率水平在ABCG2基因rs2231142位点的3个不同基因型中均有差异(P0.05),且差异大小依次是基因型TTGTGG。(3)汉族ABCG2基因rs2231142位点在不同尿酸水平的基因型分布有差异(P0.05),且高尿酸血症组的TT基因型均高于正常组,GG基因型均低于正常组,但是维族的分布差异没有统计学意义(P0.05)。(4)汉族肾功能大致正常组的GG基因型及G等位基因分布正常组高于高尿酸血症组,GT+TT基因型及T等位基因分布正常组低于高尿酸血症组(P0.05),维族分布差异没有统计学意义(P0.05);汉族肾功能大致正常组、维族肾功能不全组携带TT基因型人群罹患高尿酸血症的相对危险性分别是携带GG基因型人群的1.502、1.163倍(P0.05)。结论:维、汉族估计的肾小球滤过率与高尿酸血症关系较为密切;维、汉族携带T等位基因的人群对肾功能的影响较非携带者升高,与肾功能损伤有一定关联,同时高尿酸血症患病的相对危险性增加;维、汉族携带TT基因型人群罹患高尿酸血症的相对危险性高于携带GG基因型人群,提示T等位基因可能是高尿酸血症的易感基因,G等位基因可能是高尿酸血症的保护基因。
[Abstract]:Objective: to investigate the association of ABCG2 gene rs2231142 polymorphism with uric acid metabolism and renal function in Uygur and Han nationality. Methods: from February to December 2013, 2412 Uygur (Uygur) and 1289 Han nationality (Uygur) patients, aged 20-70 years, were enrolled in the physical examination Center of the first affiliated Hospital of Xinjiang Medical University. According to the level of uric acid and the inclusion and exclusion criteria, the blood samples were collected and the biochemical indexes were detected, then the ABCG2 gene fragment was amplified by PCR from the whole blood genomic DNA. Single nucleotide polymorphism (SNP) of ABCG2 gene was detected by multiple high temperature ligase assay (iMLDR) and the correlation between ABCG2 gene rs2231142 polymorphism and uric acid metabolism and renal function in Uygur and Han nationality was analyzed. Results: (1) the level of serum uric acid in the Han nationality was higher than that in the Uygur nationality (P0.05), the level of serum uric acid in the hyperuricemia group was higher than that in the normal group (P0.05), and the estimated glomerular filtration rate was correlated with serum uric acid (P0.05). (2), serum uric acid, creatinine, urea nitrogen in Han nationality. The estimated glomerular filtration rate (GFR) was different among the three genotypes of ABCG2 gene rs2231142 locus (P0.05). (3) the genotype distribution of ABCG2 rs2231142 locus in Han nationality was different at different uric acid levels (P0.05). The TT genotype of hyperuricemia group was higher than that of normal group, and the genotype of GG in hyperuricemia group was lower than that in normal group. The distribution of GG genotype and G allele in Han nationality with normal renal function was higher than that of hyperuricemia group with GT TT genotype and T allele distribution in Han nationality (P0.05). (4). The distribution of GG genotype and G allele in the normal group with normal renal function was lower than that in the normal group with hyperuricemia. There was no significant difference in the distribution of Uygur (P0.05) in the uremic acidemia group (P0.05), while the renal function of the Han nationality was approximately normal. The relative risk of hyperuricemia in patients with TT genotype in Uygur group was 1.502or 1.163 times higher than that in GG group (P0.05). Conclusion: the estimated glomerular filtration rate of Han nationality is closely related to hyperuricemia, and the influence of T allele on renal function in Han nationality is higher than that of non-carriers, which is related to renal function injury. At the same time, the relative risk of hyperuricemia was increased, and the relative risk of hyperuricemia in Han nationality with TT genotype was higher than that with GG genotype. It is suggested that T allele may be the susceptible gene G allele of hyperuricemia and may be the protective gene of hyperuricemia.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R589.7

【参考文献】