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CBX4基因rs1285251位点单核苷酸多态性与子宫肌瘤的关系研究

Study on correlation of single nucleotide polymorphism of CBX4 gene at locus rs1285251 with uterine myoma
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摘要 目的探讨色素框同源蛋白4(CBX4)基因rs1285251位点单核苷酸多态性(SNP)与子宫肌瘤发病风险及临床病理特征的关系。方法选择419例子宫肌瘤患者作为病例组,同期499例体检的健康女性作为对照组。分别采集两组研究对象的静脉血,提取全血DNA,采用Mass ARRAY技术进行CBX4基因SNP分型检测,并进行统计学分析。结果病例组与对照组CBX4基因rs1285251位点基因型频率及等位基因频率分布比较,差异均具有统计学意义(P<0.05)。与CC基因型相比,携带TT基因型人群子宫肌瘤发病风险明显升高[OR=2.046,95%CI=(1.268,3.301),P=0.003<0.05],校正年龄后仍有统计学差异[OR=1.951,95%CI=(1.138,3.344),P=0.015<0.05]。隐性模型条件下,TT基因型携带者与TC+CC基因型相比罹患子宫肌瘤的风险更高[OR=2.023,95%CI=(1.273,3.212),P=0.003<0.05],校正年龄后仍有统计学差异[OR=2.018,95%CI=(1.201,3.393),P=0.008<0.05]。分层分析显示,携带TT基因型的<40岁女性子宫肌瘤患病风险明显升高[OR=1.811,95%CI=(1.054,3.110),P=0.031<0.05],校正年龄后仍有统计学差异[OR=1.839,95%CI=(1.036,3.264),P=0.037<0.05]。此外,TT基因型携带者出现多发性肌瘤[OR=2.432,95%CI=(1.406,4.209),P=0.001<0.05]、校正年龄后仍有统计学差异[OR=2.726,95%CI=(1.438,5.167),P=0.002<0.05],肌壁间肌瘤[OR=2.145,95%CI=(1.320,3.485),P=0.002<0.05]、校正年龄后仍有统计学差异[OR=2.025,95%CI=(1.170,3.504),P=0.012<0.05]及大体积肌瘤(最大肌瘤长径≥5 cm)[OR=2.124,95%CI=(1.300,3.470),P=0.003<0.05]、校正年龄后仍有统计学差异[OR=2.138,95%CI=(1.231,3.714),P=0.007<0.05]的风险显著增加。结论CBX4基因rs1285251位点SNP增加了子宫肌瘤患病风险,并与其临床病理特征密切相关。 Objective To discuss the correlation of single nucleotide polymorphism(SNP)of chromobox protein homolog 4(CBX4)gene at locus rs1285251 with the risk and clinicopathological features of uterine myoma.Methods 419 patients with uterine myoma were selected as the case group and concurrent 499 healthy women who underwent physical examination were selected as the control group.Venous blood of the two groups was collected respectively,whole blood DNA was extracted,Mass ARRAY technology was used to conduct SNP typing detection of CBX4 gene,and statistical analysis was conducted.Results There were statistically significant differences in distribution of genotype frequency and allele frequency of CBX4 gene at locus rs1285251 between the case group and the control group(P<0.05).Compared with CC genotype,TT genotype carriers had a significantly higher risk of uterine myoma[OR=2.046;95%CI=(1.268,3.301);P=0.003<0.05],and the difference was still statistically significant after adjusting for age[OR=1.951;95%CI=(1.138,3.344);P=0.015<0.05].Under the recessive model,TT genotype carriers had a higher risk of uterine myoma compared with TC+CC genotype[OR=2.023;95%CI=(1.273,3.212);P=0.003<0.05],and there was still a statistical difference after adjusting for age[OR=2.018;95%CI=(1.201,3.393);P=0.008<0.05].Stratified analysis showed that the risk of uterine myoma in women<40 years old carrying TT genotype was significantly increased[OR=1.811,95%CI=(1.054,3.110),P=0.031<0.05],and there was still a statistical difference after adjusting for age[OR=1.839;95%CI=(1.036,3.264);P=0.037<0.05].In addition,TT genotype carriers had multiple myomas[OR=2.432;95%CI=(1.406,4.209);P=0.001<0.05],and the difference was still statistically significant after adjusting for age[OR=2.726;95%CI=(1.438,5.167);P=0.002<0.05];interparietal myoma[OR=2.145;95%CI=(1.320,3.485);P=0.002<0.05],and the difference was still statistically significant after adjusting for age[OR=2.025,95%CI=(1.170,3.504),P=0.012<0.05];large myoma(long diameter of maximum myoma≥5 cm)[OR=2.
作者 陆美茵 朱东艳 光晓燕 李剑 LU Mei-yin;ZHU Dong-yan;GUANG Xiao-yan(Graduate School of Medical College of Shantou University,Shantou 515041,China)
出处 《中国实用医药》 2023年第18期40-44,共5页 China Practical Medicine
关键词 子宫肌瘤 单核苷酸多态性 色素框同源蛋白4 基因位点 uterine myoma Single nucleotide polymorphism Chromobox protein homolog 4 Locus
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