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人类非转移性克隆 23 型 1 基因遗传多态性与子宫内膜癌风险增加显著相关。

Significant association of genetic polymorphism of human nonmetastatic clone 23 type 1 gene with an increased risk of endometrial cancer.

机构信息

Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan.

出版信息

Gynecol Oncol. 2010 Oct;119(1):70-5. doi: 10.1016/j.ygyno.2010.06.013.

DOI:10.1016/j.ygyno.2010.06.013
PMID:20599259
Abstract

OBJECTIVE

To investigate the association of single nucleotide polymorphisms (SNPs) of nonmetastatic clone 23 type 1 (nm23-H1) gene with endometrial cancer and their implication in clinicopathologic characteristics of women in Taiwan.

METHODS

Three hundred and fifty-nine blood samples were collected from 268 healthy women and 91 patients with endometrial cancer to analyze SNPs rs16949649 and rs2302254 of nm23-H1 promoter using real time polymerase chain reaction and genotyping. The association of genotype and allele differences of nm23-H1 SNPs with endometrial cancer and their implication in some clinicopathologic variables were analyzed using Pearson's Chi-square or Fisher exact tests.

RESULTS

Women with heterozygous genotypes TC in rs16949649 or CT in rs2302254 exhibited higher risk to develop endometrial cancer as compared to those with their wild-type or homozygous genotypes (odds ratio 3.30 and 1.86; 1.84 and 1.90 for respective SNP). Individuals with CC genotype were at less risk (OR: 0.08; P=0.037) to have non-endometrioid type as compared to those with TT genotype in rs16949649. However, a trend of increased risk (OR: 26.67; P=0.01) of advanced stage endometrial cancer (stage III-IV) was observed in patients with TT genotype as compared to those with CC genotype in rs2302254.

CONCLUSIONS

Heterozygous genotypes TC in rs16949649 and CT in rs2302254 of nm23-H1 promoter are potential susceptibility factors for endometrial cancer in Taiwan women. Once having the endometrial cancer, Taiwan women with variant homozygote CC in rs1694964 were at less risk to have non-endometrioid type, while women with variant homozygote TT in rs2302254 tended to have advanced stage cancer.

摘要

目的

研究非转移性克隆 23 型 1(nm23-H1)基因单核苷酸多态性(SNPs)与子宫内膜癌的关系及其对台湾女性临床病理特征的影响。

方法

从 268 名健康女性和 91 名子宫内膜癌患者中采集 359 份血样,采用实时聚合酶链反应和基因分型法分析 nm23-H1 启动子 rs16949649 和 rs2302254 的 SNP。采用 Pearson 卡方检验或 Fisher 确切检验分析 nm23-H1 SNP 基因型和等位基因差异与子宫内膜癌的关系及其对某些临床病理变量的影响。

结果

与野生型或纯合基因型相比,rs16949649 杂合基因型 TC 或 rs2302254 杂合基因型 CT 的女性发生子宫内膜癌的风险更高(优势比 3.30 和 1.86;1.84 和 1.90 分别对应于各自的 SNP)。与 rs16949649 中的 TT 基因型相比,CC 基因型的个体患非子宫内膜样型的风险较低(OR:0.08;P=0.037)。然而,与 rs2302254 中的 CC 基因型相比,TT 基因型的患者患有晚期子宫内膜癌(III-IV 期)的风险呈增加趋势(OR:26.67;P=0.01)。

结论

nm23-H1 启动子 rs16949649 中的杂合基因型 TC 和 rs2302254 中的 CT 是台湾女性子宫内膜癌的潜在易感因素。一旦患有子宫内膜癌,rs16949649 中的变异纯合子 CC 的台湾女性患非子宫内膜样型的风险较低,而 rs2302254 中的变异纯合子 TT 的女性患晚期癌症的风险较高。

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