本文選題：高尿酸血癥 + ABCG2基因　； 參考：《新疆醫(yī)科大學(xué)》2015年碩士論文

【摘要】：目的:探討ABCG2基因rs2231142位點(diǎn)多態(tài)性與維吾爾族、漢族尿酸代謝及腎臟功能的相關(guān)性。方法:收集2013年2月-12月在新疆醫(yī)科大學(xué)第一附屬醫(yī)院體檢中心健康體檢者,年齡20歲-70歲,維吾爾族(以下簡稱維族)2412名,漢族1289名,并依據(jù)尿酸水平以及納入和排除標(biāo)準(zhǔn)分為兩組;采集血液樣本并進(jìn)行各項(xiàng)生化指標(biāo)的檢測,然后提取全血基因組DNA,PCR擴(kuò)增ABCG2基因片段,擴(kuò)增產(chǎn)物用多重高溫連接酶檢測反應(yīng)(iMLDR)進(jìn)行單核苷酸多態(tài)性檢測并統(tǒng)計(jì)分析ABCG2基因rs2231142位點(diǎn)多態(tài)性與維吾爾族、漢族尿酸代謝及腎臟功能的相關(guān)性。結(jié)果:(1)漢族血尿酸水平高于維族(P0.05);維、漢族高尿酸血癥組的血尿酸水平均高于正常組(P0.05),且估計(jì)的腎小球?yàn)V過率與血尿酸相關(guān)(P0.05)。(2)維、漢族血尿酸、肌酐、尿素氮、估計(jì)的腎小球?yàn)V過率水平在ABCG2基因rs2231142位點(diǎn)的3個(gè)不同基因型中均有差異(P0.05),且差異大小依次是基因型TTGTGG。(3)漢族ABCG2基因rs2231142位點(diǎn)在不同尿酸水平的基因型分布有差異(P0.05),且高尿酸血癥組的TT基因型均高于正常組,GG基因型均低于正常組,但是維族的分布差異沒有統(tǒng)計(jì)學(xué)意義(P0.05)。(4)漢族腎功能大致正常組的GG基因型及G等位基因分布正常組高于高尿酸血癥組,GT+TT基因型及T等位基因分布正常組低于高尿酸血癥組(P0.05),維族分布差異沒有統(tǒng)計(jì)學(xué)意義(P0.05);漢族腎功能大致正常組、維族腎功能不全組攜帶TT基因型人群罹患高尿酸血癥的相對危險(xiǎn)性分別是攜帶GG基因型人群的1.502、1.163倍(P0.05)。結(jié)論:維、漢族估計(jì)的腎小球?yàn)V過率與高尿酸血癥關(guān)系較為密切;維、漢族攜帶T等位基因的人群對腎功能的影響較非攜帶者升高,與腎功能損傷有一定關(guān)聯(lián),同時(shí)高尿酸血癥患病的相對危險(xiǎn)性增加;維、漢族攜帶TT基因型人群罹患高尿酸血癥的相對危險(xiǎn)性高于攜帶GG基因型人群,提示T等位基因可能是高尿酸血癥的易感基因,G等位基因可能是高尿酸血癥的保護(hù)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.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2015
【分類號】：R589.7

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