本文選題：痛風(fēng) + TGF-β1��； 參考：《青島大學(xué)》2016年博士論文

【摘要】：目的研究中國(guó)漢族男性群體轉(zhuǎn)化生長(zhǎng)因子β1(TGF-β1)基因rs1800469、rs1800470、rs4803455位點(diǎn)單核苷酸多態(tài)性與原發(fā)性痛風(fēng)遺傳易感性的關(guān)系。方法選取507例中國(guó)漢族男性痛風(fēng)病例以及526例與其相匹配的健康男性對(duì)照作為研究對(duì)象,應(yīng)用Taqman?熒光定量PCR方法對(duì)研究對(duì)象rs1800469、rs1800470、rs4803455位點(diǎn)進(jìn)行基因分型。應(yīng)用χ2檢驗(yàn)比較各位點(diǎn)在痛風(fēng)組與對(duì)照組中的基因型頻率及等位基因頻率分布情況,并分析不同基因型與原發(fā)性痛風(fēng)遺傳易感性之間的關(guān)系。結(jié)果(1)痛風(fēng)組rs1800470位點(diǎn)CC、CT、TT基因型分布頻率分別為23.08%、47.14%和29.78%,與對(duì)照組(30.04%、45.82%和24.14%)之間相比較,差異有統(tǒng)計(jì)學(xué)意義(P=0.020)。兩組間C、T等位基因頻率(痛風(fēng)組46.65%、53.35%,對(duì)照組52.95%、47.05%)相比較,差異也有統(tǒng)計(jì)學(xué)意義(P=0.004)。攜帶TT基因型的個(gè)體患痛風(fēng)的風(fēng)險(xiǎn)明顯增高,為CC基因型個(gè)體的1.641倍(校正體重指數(shù)、腰臀比、收縮壓、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)痛風(fēng)患者中,痛風(fēng)石組rs1800470位點(diǎn)CC、CT、TT基因型以及C、T等位基因分布頻率與無痛風(fēng)石組之間相比較,差異均有統(tǒng)計(jì)學(xué)意義(P=0.022,P=0.006)。攜帶TT基因型的個(gè)體發(fā)生痛風(fēng)石的風(fēng)險(xiǎn)為CC基因型個(gè)體的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位點(diǎn)基因型與等位基因分布頻率在痛風(fēng)組與對(duì)照組之間相比較,差異沒有統(tǒng)計(jì)學(xué)意義(P0.05);在痛風(fēng)石組與無痛風(fēng)石組痛風(fēng)患者間相比較,差異也沒有統(tǒng)計(jì)學(xué)意義(P0.05)。(4)rs1800470位點(diǎn)攜帶TT、CT、CC基因型各組進(jìn)行組間比較時(shí),病程(P=0.045)、甘油三酯(P=0.001)有顯著統(tǒng)計(jì)學(xué)差異,其余指標(biāo)間無統(tǒng)計(jì)學(xué)差異(P0.05)。結(jié)論中國(guó)漢族男性人群TGF-β1基因rs1800470位點(diǎn)多態(tài)性可能與痛風(fēng)的發(fā)生存在明顯關(guān)聯(lián),可能與痛風(fēng)石的形成密切相關(guān),然而還需要擴(kuò)大樣本量進(jìn)行大規(guī)模的研究進(jìn)一步驗(yàn)證。
[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.
【學(xué)位授予單位】：青島大學(xué)
【學(xué)位級(jí)別】：博士
【學(xué)位授予年份】：2016
【分類號(hào)】：R589.7

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本文編號(hào)：1851643