中国汉族男性人群TGF-β1基因多态性与痛风遗传易感性的相关性研究

发布时间：2018-05-06 08:54

本文选题：痛风 + TGF-β1　；参考：《青岛大学》2016年博士论文

【摘要】：目的研究中国汉族男性群体转化生长因子β1(TGF-β1)基因rs1800469、rs1800470、rs4803455位点单核苷酸多态性与原发性痛风遗传易感性的关系。方法选取507例中国汉族男性痛风病例以及526例与其相匹配的健康男性对照作为研究对象,应用Taqman?荧光定量PCR方法对研究对象rs1800469、rs1800470、rs4803455位点进行基因分型。应用χ2检验比较各位点在痛风组与对照组中的基因型频率及等位基因频率分布情况,并分析不同基因型与原发性痛风遗传易感性之间的关系。结果(1)痛风组rs1800470位点CC、CT、TT基因型分布频率分别为23.08%、47.14%和29.78%,与对照组(30.04%、45.82%和24.14%)之间相比较,差异有统计学意义(P=0.020)。两组间C、T等位基因频率(痛风组46.65%、53.35%,对照组52.95%、47.05%)相比较,差异也有统计学意义(P=0.004)。携带TT基因型的个体患痛风的风险明显增高,为CC基因型个体的1.641倍(校正体重指数、腰臀比、收缩压、空腹血糖、甘油三酯、血肌酐后的OR=1.641,95%CI 1.181-2.286,P=0.009)。(2)痛风患者中,痛风石组rs1800470位点CC、CT、TT基因型以及C、T等位基因分布频率与无痛风石组之间相比较,差异均有统计学意义(P=0.022,P=0.006)。携带TT基因型的个体发生痛风石的风险为CC基因型个体的2.661倍(校正血尿酸、病程后的OR=2.661,95%CI 1.322-5.376,P=0.010)。(3)rs1800469、rs4803455位点基因型与等位基因分布频率在痛风组与对照组之间相比较,差异没有统计学意义(P0.05);在痛风石组与无痛风石组痛风患者间相比较,差异也没有统计学意义(P0.05)。(4)rs1800470位点携带TT、CT、CC基因型各组进行组间比较时,病程(P=0.045)、甘油三酯(P=0.001)有显著统计学差异,其余指标间无统计学差异(P0.05)。结论中国汉族男性人群TGF-β1基因rs1800470位点多态性可能与痛风的发生存在明显关联,可能与痛风石的形成密切相关,然而还需要扩大样本量进行大规模的研究进一步验证。
[Abstract]:Objective to study the association between single nucleotide polymorphism at rs1800469rs1800470rs4803455 and genetic susceptibility to primary gout in Chinese Han male population. Methods 507 Chinese male gout cases and 526 matched healthy male controls were selected as study subjects, Taqman? The genotyping of rs1800469 rs1800470 rs4803455 was carried out by fluorescence quantitative PCR. The distribution of genotype frequency and allele frequency in gout group and control group were compared by 蠂 2 test, and the relationship between different genotypes and genetic susceptibility to primary gout was analyzed. Results (1) in gout group, the distribution frequency of rs1800470 locus CCT CTN TT genotype was 23.08% and 29.78%, respectively, which was significantly higher than that of control group (30.04%, 45.82% and 24.14%). The frequency of CfT allele in gout group (46.65) and control group (52.95 / 47.05) were significantly higher than those in control group (P = 0.004). Individuals with TT genotype were 1.641 times more likely to develop gout than those with CC genotype (adjusted body mass index, waist-to-hip ratio, systolic blood pressure, fasting blood glucose, triglyceride, ORL 1.6419595 CI 1.181-2.286P0. 009P0. 2 after creatinine). There were significant differences in the genotype and allele frequency of CTT in rs1800470 locus between gout stone group and non-gout stone group. There was significant difference between gout stone group and non-gout stone group (P < 0. 022, P < 0. 006). Individuals with TT genotype were 2.661 times more likely to develop gout stones than those with CC genotype (adjusted serum uric acid, CI 1.322-5.376 CI 1.322-5.376 after the course of disease). The frequency of genotype and allele distribution at locus 1800469rs4803455 was compared between gout group and control group. There was no significant difference between gout patients in gout stone group and no gout group, and there was no significant difference in the course of disease and triglyceride P0.001 when the genotype of TTT CTCC was carried at the locus P0.05, rs1800470, the course of disease was 0.045, triglyceride P0.001) in the gout group, and there was no significant difference between the two groups. There was no statistical difference between the other indexes (P 0.05). Conclusion the polymorphism of rs1800470 locus of TGF- 尾 1 gene may be associated with the occurrence of gout and the formation of gout stone in Chinese Han Chinese male population. However, it is necessary to expand the sample size to further verify the occurrence of gout.
【学位授予单位】：青岛大学
【学位级别】：博士
【学位授予年份】：2016
【分类号】：R589.7

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