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程序性细胞死亡6基因单核苷酸多态性与中国汉族女性子宫内膜癌风险的关联。

Association between single nucleotide polymorphisms in the programmed cell death 6 gene and the risk of endometrial cancer in Chinese Han women.

作者信息

Yuan Mingwei, Song Yaping, You Di, Li Qin, Zhang Yan, Zhou Bin, Zhang Lin, Xi Mingrong

机构信息

Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University Chengdu, Sichuan, PR China.

Laboratory of Molecular Translational Medicine, West China Institute of Women and Children's Health, Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University Chengdu, Sichuan, PR China.

出版信息

Int J Clin Exp Pathol. 2017 Nov 1;10(11):11169-11178. eCollection 2017.

Abstract

The programmed cell death 6 () gene, originally identified as a pro-apoptotic gene, has recently been reported to have contradictory roles in different diseases and may promote cell proliferation. Here, we examined whether single nucleotide polymorphisms (SNPs) in were associated with endometrial cancer (EC). The genotypes of these two SNPs (rs3756712 and rs4957014) in were distinguished by polymerase chain reaction-restriction fragment length polymorphism in 238 patients with EC and 518 controls. Briefly, the T allele of rs3756712 was found to increase EC risk ( = 0.028, odds ratio [OR] = 0.747). Moreover, EC risk was associated with these two SNPs in different genetic models ( = 0.031, OR = 1.42 for rs3756712 in the dominant model; = 0.019, OR = 0.63 for rs4957014 in the codominant model; = 0.0073, OR = 0.65 for rs4957014 in the dominant model; = 0.0076, OR = 0.66 for rs4957014 in the overdominant model). Results of stratified analyses revealed that rs4957012 was linked to body mass index (BMI) and parametrial invasion and that rs4957014 was associated with BMI, although this associated was not statistically significant ( = 0.065, OR = 4.42, 95% confidence interval = 1.06-18.51). Our results indicated that these two tag SNPs in were associated with EC, suggesting that may play a crucial role in the tumorigenesis of EC.

摘要

程序性细胞死亡6()基因最初被鉴定为促凋亡基因,最近有报道称其在不同疾病中具有相互矛盾的作用,可能促进细胞增殖。在此,我们研究了该基因中的单核苷酸多态性(SNP)是否与子宫内膜癌(EC)相关。通过聚合酶链反应-限制性片段长度多态性对238例EC患者和518例对照者中该基因的这两个SNP(rs3756712和rs4957014)的基因型进行区分。简而言之,发现rs3756712的T等位基因会增加EC风险(=0.028,比值比[OR]=0.747)。此外,在不同遗传模型中,EC风险与这两个SNP相关(在显性模型中,rs3756712的=0.031,OR=1.42;在共显性模型中,rs4957014的=0.019,OR=0.63;在显性模型中,rs4957014的=0.0073,OR=0.65;在超显性模型中,rs4957014的=0.0076,OR=0.66)。分层分析结果显示,rs4957012与体重指数(BMI)和宫旁浸润有关,rs4957014与BMI有关,尽管这种关联无统计学意义(=0.065,OR=4.42,95%置信区间=1.06-18.51)。我们的结果表明,该基因中的这两个标签SNP与EC相关,提示该基因可能在EC的肿瘤发生中起关键作用。

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