【摘要】：目的:探討中國漢族沿海地區(qū)男性群體的維生素D受體(Vitmin D Receptor,VDR)rs11568820、rs2228570與rs1544410位點基因多態(tài)性與痛風(fēng)遺傳易感性的關(guān)系。方法:采用Taqman#174;熒光定量PCR技術(shù),對中國沿海地區(qū)504例男性痛風(fēng)患者與523例健康對照者rs11568820、rs2228570與rs1544410位點進行基因分型。采用Hardy-Weinberg平衡原則檢驗確定標本的群體代表性。采用X2檢驗進行關(guān)聯(lián)分析,采用單因素方差分析(ANOVA)分析痛風(fēng)組各基因型與表型之間的相關(guān)性。結(jié)果:痛風(fēng)組BMI、血糖、甘油三酯、膽固醇、肌酐、尿素氮、尿酸、收縮壓和舒張壓明顯高于健康對照組,差異有統(tǒng)計學(xué)意義(P0.01)。兩組的年齡相比,差異無統(tǒng)計學(xué)意義(PO.05)。VDR基因rs11568820與rs1544410位點多態(tài)性與中國漢族男性人群中痛風(fēng)的易感性相關(guān)。VDR基因rs11568820與rs1544410位點中,等位基因A均與痛風(fēng)的發(fā)病率相關(guān),與健康對照組相比,差異具有統(tǒng)計學(xué)意義[P=0.012 OR1.251,95%CI(1.051-1.490);P=0.006,OR 1.574,95%CI(1.139-2.175)]。然而,痛風(fēng)組與對照組相比,rs2228570位點基因型與等位基因頻率的比較差異無統(tǒng)計學(xué)意義(P=0.186)�；蛐�-表型相關(guān)性的分析中,rs1544410位點GG、GC、CC基因型之間,收縮壓及發(fā)病年齡在65 84之間具有相關(guān)性(P=0.007,P=0.011),而rs11568820位點GG、GC、CC基因型之間,病程及肌酐水平具有相關(guān)性(P=0.039,P=0.001),其他表型之間不具有相關(guān)性。結(jié)論:中國沿海地區(qū)漢族男性人群VDR基因多態(tài)性可能與痛風(fēng)的易感性相關(guān),然而需要在更大的樣本量及其它種族中進行進一步的驗證。
[Abstract]:Objective: to investigate the relationship between the genetic polymorphism of vitamin D receptor (Vitmin D Receptor,VDR) rs11568820,rs2228570 and rs1544410 locus and the genetic susceptibility to gout in male population of Han nationality in coastal areas of China. Methods: rs11568820,rs2228570 and rs1544410 loci in 504 male gout patients and 523 healthy controls were genotyped by Taqman#174; fluorescence quantitative PCR technique. The Hardy-Weinberg balance test was used to determine the group representation of the specimens. The correlation between genotypes and phenotypes in gout group was analyzed by X2 test and univariate analysis of variance (ANOVA). Results: the levels of blood glucose, triglyceride, cholesterol, creatinine, urea nitrogen, uric acid, systolic blood pressure and diastolic blood pressure in gout group were significantly higher than those in healthy control group (P0.01). There was no significant difference in age between the two groups (PO.05). VDR gene rs11568820 and rs1544410 locus polymorphism was associated with gout susceptibility in Chinese Han male population. VDR gene rs11568820 and rs1544410 loci were associated with gout susceptibility. Allele A was correlated with the incidence of gout, and the difference was statistically significant (P < 0.012 OR1.251,95%CI (1.051-1.490). P0. 006 OR 1.574 / 95 CI (1.139-2.175). However, there was no significant difference in genotype and allele frequency of rs2228570 locus between gout group and control group (P0. 186). In the analysis of genotype phenotypic correlation, there was a correlation between GG,GC,CC genotype, systolic blood pressure and onset age of 65 ~ 84 at rs1544410 locus (P0. 007, P0. 011), and between GG,GC,CC genotypes at rs11568820 locus. There was a correlation between course of disease and creatinine level (P0. 039, P0. 001), but there was no correlation between other phenotypes. Conclusion: the polymorphism of VDR gene may be associated with the susceptibility to gout in Chinese coastal Han male population, but it needs to be further verified in larger sample size and other ethnic groups.
【學(xué)位授予單位】：青島大學(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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