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章婷,徐琦.PITX1 rs647161位点基因多态性和环境交互作用与结直肠癌风险相关性研究[J].浙江中西医结合杂志,2019,29(8):
PITX1 rs647161位点基因多态性和环境交互作用与结直肠癌风险相关性研究
Association of PITX1 rs647161 Polymorphism and Environmental Interaction with Colorectal Cancer Risk.
投稿时间:2018-09-01  修订日期:2019-03-06
DOI:
中文关键词:  配对型同源结构域1  结直肠癌  单核苷酸多态性  相互作用
英文关键词:PITX 1  colorectal cancer  single nucleotide polymorphism  interaction
基金项目:浙江省中医药科技计划(2018ZB022)
作者单位E-mail
章婷 杭州市富阳区第二人民医院 fyey267@163.com 
徐琦* 浙江省肿瘤医院 hzxuqi@sina.cn 
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中文摘要:
      目的 研究配对型同源结构域1(PITX 1)基因rs647161位点单核苷酸多态性与结直肠癌(colorectal cancer,CRC)易感性及其严重程度的相关性。方法 随机选择120例结直肠癌患者作为研究组,根据研究组患者年龄、性别匹配选择120例健康对照组。通过直接测序法分析PITX1基因rs647161位点基因型。结果 PITX1 rs647161位点A等位基因是CRC的高风险因素(OR=1.69,95%CI=1.12-2.53,P=0.01)。女性、年龄≥50岁、BMI≥25kg/m2、吸烟、饮酒这几类受试者携带A等位基因会导致患CRC风险显著升高(P<0.05)。携带CA和AA基因型的CRC患者疾病容易进展(P<0.05)。结论 PITX1 rs647161位点基因多态性与CRC风险和疾病进展有关,A等位基因和性别、年龄、BMI、吸烟、饮酒等因素的交互作用增加患CRC的风险。
英文摘要:
      Objective To study the relationship between the single nucleotide polymorphism (SNP) of the rs647161 locus of the paired homology domain 1 (PITX 1) gene and the susceptibility and severity of colorectal cancer (CRC). Methods 120 patients with colorectal cancer were randomly selected as the study group. 120 healthy controls were selected according to the age and gender of the study group. The PITX1 gene rs647161 locus genotype was analyzed by direct sequencing. Results The A allele of the PITX1 rs647161 locus was a high risk factor for CRC (OR=1.69, 95% CI=1.12-2.53, P=0.01). Females, age≥50 years, BMI≥25 kg/m2, smoking, drinking, and carrying the A allele resulted in a significant increase in the risk of CRC (P < 0.05). Patients with CRC carrying CA and AA genotypes were susceptible to disease progression (P < 0.05). Conclusion PITX1 rs647161 polymorphism is associated with CRC risk and disease progression. The interaction of A allele with gender, age, BMI, smoking, drinking increases the risk of CRC.
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