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- W3013868404 abstract "Objective: To investigate the association of ulcerative colitis (UC) with fork head/winged helix transcription factor-3 (Foxp3) polymorphisms in Han population in Zhejiang province, China. Methods: A total of 381 UC patients and 490 healthy controls were enrolled in this study.The four single nucleotide polymorphisms (SNPs) of Foxp3 (rs3761547, rs2232365, rs2294021, rs3761548) were examined by SNaPshot.The analyses of linkage disequilibrium (LD) and haplotype were also performed in all study subjects. Results: When male and female UC patients were compared with their corresponding controls respectively, the alleles and genotypes of the four SNPs were not statistically different (all P>0.05). According to severity and location of the disease, the UC patients were divided into different subgroups. The alleles (C, G, A) of (rs2232365, rs2294021, rs3761548) were more frequent in male patients with severe UC than in the male controls (69.6% vs 34.3%, P=0.001; 69.6% vs 34.3%, P=0.001; 39.1% vs 14.4%, P=0.002, respectively). As compared with the female controls, the alleles (C, G, A) and genotypes (TC+ CC, AG+ GG, CA+ AA) of (rs2232365, rs2294021, rs3761548) were significantly increased in the female patients with severe UC (51.9% vs 38.0%, 63.5% vs 39.2%, 53.8% vs 21.4%, 80.8% vs 57.7%, 84.6% vs 58.4%, 76.9% vs 34.7%, all P<0.05). The four SNPs above were shown to be in a strong LD both in male and in female subjects.When male and female UC patients were compared with their corresponding controls respectively, nevertheless, each haplotype frequency was not statistically different (all P>0.05). Conclusions:Foxp3 (rs2232365, rs2294021, rs3761548) variations might engender the increased risk of severe UC in Chinese Han patients.目的:在浙江籍汉族人群中探讨叉头/翼状螺旋转录因子3 (Foxp3)基因多态性与溃疡性结肠炎(UC)易感性的关系。方法:收集381例UC患者和490名年龄、性别相匹配的健康对照者,采用多重SNaPshot技术检测Foxp3基因4种单核苷酸多态性(SNP) (rs3761547、rs2232365、rs2294021、rs3761548),并进行连锁不平衡和单倍型分析。结果:男、女性UC组分别与男、女性对照组比较,Foxp3的4种SNP(rs3761547、rs2232365、rs2294021、rs3761548)的等位基因和基因型频率的差异均无统计学意义(P值均>0.05)。依据疾病严重程度和累及部位分层分析。男性重度UC患者中,rs2232365、rs2294021、rs3761548的等位基因C、G、A频率均显著高于男性对照组(69.6%比34.3%,P=0.001;69.6%比34.3%,P=0.001;39.1%比14.4%,P=0.002)。与女性对照组相比,女性重度UC患者中不仅rs2232365、rs2294021、rs3761548的等位基因C、G、A频率更高(51.9%比38.0%,P=0.049;63.5%比39.2%,P=0.001;53.8%比21.4%,P<0.001),而且基因型(TC+CC)、(AG+GG)、(CA+AA)的频率亦更高(80.8%比57.7%,P=0.022;84.6%比58.4%,P=0.009;76.9%比34.7%,P<0.001)。虽然上述4种SNP彼此紧密连锁,但男、女性UC组分别与男、女性对照组比较,各单倍型频率的差异均无统计学意义(P值均>0.05)。结论:浙江籍汉族人群中Foxp3(rs2232365、rs2294021、rs3761548)基因变异可能增加重度UC发病风险。." @default.
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- W3013868404 date "2017-03-01" @default.
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- W3013868404 title "[Association of ulcerative colitis with fork head/winged helix transcription factor-3 gene polymorphisms in Chinese patients]." @default.
- W3013868404 doi "https://doi.org/10.3760/cma.j.issn.0578-1426.2017.03.008" @default.
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