[Association of P53 gene polymorphisms with susceptibility to endometriosis].

Yuxin Huang, Huang Y, Zong L, Lili Zong, Jianghai Lin, Lin J, Fu Y, Yonggui Fu, Zehuan Liu, Ting Mao, Mao T, Zeng J, Jun Zeng, Yufeng Wang, Wang Y, Xin Zhao, Zhao X
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2013 · vol. 30(3) , pp. 335–9 · doi:10.3760/cma.j.issn.1003-9406.2013.03.019 · PMID:23744327 · W53675884
article OA: closed CC0 ⤵ 7 in-corpus citations
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This study genotyped the P53 rs1042522(C/G) SNP in Han Chinese women, finding it significantly associated with increased susceptibility to endometriosis and endometrial carcinoma.

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This study investigated the association between P53 gene rs1042522 polymorphisms and susceptibility to endometriosis in Han Chinese women by analyzing genotypes in 460 patients, 530 controls, and 113 endometrial carcinoma cases. The results demonstrated a statistically significant difference in allele and genotype distributions between endometriosis patients and healthy controls, with specific variants increasing disease risk. Additionally, similar genetic associations were observed for endometrial carcinoma, leading the authors to conclude that endometriosis may share tumorigenic mechanisms from a genetic perspective. This paper is centrally about endometriosis — specifically investigating the genetic susceptibility linked to P53 polymorphisms in affected women.

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Abstract

OBJECTIVE: To assess the association of a single nucleotide polymorphism(SNP) in tumor suppressor gene P53 with the risk of endometriosis (EM) in Han Chinese women. METHODS: For 460 EM patients, 113 patients with endometrial carcinoma and 530 matched unrelated controls, a rs1042522(C/G) SNP of the P53 gene was genotyped by polymerase chain reaction-single strand polymorphism (PCR-SSP) and DNA sequencing. RESULTS: A significant difference has been detected in the distribution of rs1042522 alleles and genotypes between the EM patients and controls (P< 0.01). Allele G has increased the risk of EM by 1.209 times, while allele C has reduced this risk by 0.837 times. Compared with GG genotype, GC and CC genotypes have both increased the risk for EM (OR=2.073, 95%CI: 1.521-2.820, and OR=1.930, 95%CI: 1.363-2.733, respectively). Significant differences were also detected in the distribution of rs1042522 alleles and genotypes between endometrial carcinoma patients and controls (P< 0.01). Allele G has increased the risk to endometrial carcinoma by 1.311 times, while allele C has reduced this risk by 0.757 times. Compared with GG genotypes, individuals with GC and CC genotypes are more likely to be affected with endometrial carcinoma (OR=2.778, 95%CI: 1.585-4.870, and OR=2.864, 95%CI: 1.557-5.263, respectively). CONCLUSION: Our study has suggested a significant association between the rs1042522(G/C) polymorphism and susceptibility to EM in Han Chinese women. The mechanism of EM is similar to carcinoma from genetics point of view.
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P53(rs1042522)基因多态性与子宫内膜异位症易感性的相关研究 Association of P53 gene polymorphisms with susceptibility to endometriosis 摘要目的 探讨肿瘤抑制基因P53 (tumor suppressor gene,P53)多态性与子宫内膜异位症(endometriosis,EM)遗传易感性的相关性.方法 应用等位基因特异性PCR技术结合DNA测序的方法对460例EM患者、650例无EM妇女(对照组)及113例子宫内膜癌患者的P53基因rs1042522位点(G/C)多态性进行分析.结果 各组均存在P53 (rs1042522) G/C多态性,且P53 (rs1042522)位点等位基因及基因型的分布在EM组与对照组之间差异有统计学意义(P值均小于0.01),其中等位基因C使EM发病风险提高1.179倍,等位基因G使其风险降低0.854倍；GC与GG基因型相比患EM的危险度增高1.548倍(95％CI为1.153～2.081),CC与GG基因型相比患EM的危险度增高1.865倍(95％CI为1.326～2.625).P53 (rs1042522)位点等位基因及基因型的分布在子宫内膜癌组与对照组之间差异有统计学意义(P值均小于0.01),且等位基因C使内膜癌发病风险提高1.278倍,而等位基因G使其风险降低0.772倍；GC与GG基因型相比患内膜癌的危险度增高2.074倍(95％CI为1.197～3.599),CC与GG基因型相比患内膜癌的危险度增高2.864倍(95％CI为1.557～5.263).P53 (rs1042522)位点等位基因及基因型的分布在EM组与子宫内膜癌组之间差异无统计学意义.结论 P53基因rs1042522位点(G/C)的单核苷酸多态性与EM遗传易感性存在相关性,且从遗传学角度分析,EM的发病机制可能更类似于肿瘤. 更多相关知识 abstractsObjective To assess the association of a single nucleotide polymorphism (SNP) in tumor suppressor geneP53 with the risk of endometriosis (EM) in Han Chinese women.Methods For 460 EM patients,113 patients with endometrial carcinoma and 530 matched unrelated controls,a rs1042522(C/G) SNP of the P53 gene was genotyped by polymerase chain reaction-single strand polymorphism (PCR-SSP) and DNA sequencing.Results A significant difference has been detected in the distribution of rs1042522 alleles and genotypes between the EM patients and controls (P＜0.01).Allele G has increased the risk of EM by 1.209 times,while allele C has reduced this risk by 0.837 times.Compared with GG genotype,GC and CC genotypes have both increased the risk for EM (OR=2.073,95％CI:1.521-2.820,and OR=1.930,95 ％CI:1.363-2.733,respectively).Significant differences were also detected in the distribution of rs1042522 alleles and genotypes between endometrial carcinoma patients and controls (P＜0.01).Allele G has increased the risk to endometrial carcinoma by 1.311 times,while allele C has reduced this risk by 0.757 times.Compared with GG genotypes,individuals with GC and CC genotypes are more likely to be affected with endometrial carcinoma (OR=2.778,95％CI:1.585-4.870,and OR=2.864,95％CI:1.557-5.263,respectively).Conclusion Our study has suggested a significant association between the rs1042522(G/C) polymorphism and susceptibility to EM in Han Chinese women.The mechanism of EM is similar to carcinoma from genetics point of view. More相关知识 - 浏览0 - 被引7 - 下载0 相似文献 - 中文期刊 - 外文期刊 - 学位论文 - 会议论文

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endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Polymorphism, Single Nucleotide Tumor Suppressor Protein p53 Alleles Asian People Base Sequence China Endometrial Neoplasms Endometrial Neoplasms Endometriosis Female Gene Frequency Genotype Humans Odds Ratio Tumor Suppressor Protein p53

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