中国汉族男性人群VDR基因多态性与原发性痛风的易感性研究

发布时间：2018-11-22 07:09

【摘要】：目的:探讨中国汉族沿海地区男性群体的维生素D受体(Vitmin D Receptor,VDR)rs11568820、rs2228570与rs1544410位点基因多态性与痛风遗传易感性的关系。方法:采用Taqman#174;荧光定量PCR技术,对中国沿海地区504例男性痛风患者与523例健康对照者rs11568820、rs2228570与rs1544410位点进行基因分型。采用Hardy-Weinberg平衡原则检验确定标本的群体代表性。采用X2检验进行关联分析,采用单因素方差分析(ANOVA)分析痛风组各基因型与表型之间的相关性。结果:痛风组BMI、血糖、甘油三酯、胆固醇、肌酐、尿素氮、尿酸、收缩压和舒张压明显高于健康对照组,差异有统计学意义(P0.01)。两组的年龄相比,差异无统计学意义(PO.05)。VDR基因rs11568820与rs1544410位点多态性与中国汉族男性人群中痛风的易感性相关。VDR基因rs11568820与rs1544410位点中,等位基因A均与痛风的发病率相关,与健康对照组相比,差异具有统计学意义[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,痛风组与对照组相比,rs2228570位点基因型与等位基因频率的比较差异无统计学意义(P=0.186)。基因型-表型相关性的分析中,rs1544410位点GG、GC、CC基因型之间,收缩压及发病年龄在65 84之间具有相关性(P=0.007,P=0.011),而rs11568820位点GG、GC、CC基因型之间,病程及肌酐水平具有相关性(P=0.039,P=0.001),其他表型之间不具有相关性。结论:中国沿海地区汉族男性人群VDR基因多态性可能与痛风的易感性相关,然而需要在更大的样本量及其它种族中进行进一步的验证。
[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.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R589.7

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