MDM2 和 CDKN1A 基因多态性与非洲和高加索患者卡波西肉瘤的风险。

MDM2 and CDKN1A gene polymorphisms and risk of Kaposi's sarcoma in African and Caucasian patients.

机构信息

Molecular Biology and Viral Oncology and AIDS Reference Centre, National Cancer Institute, 'Fondazione Pascale', Naples, Italy.

出版信息

Biomarkers. 2011 Feb;16(1):42-50. doi: 10.3109/1354750X.2010.525664. Epub 2010 Oct 28.

DOI:10.3109/1354750X.2010.525664

PMID:20979563

Abstract

A single-nucleotide polymorphism in the MDM2 promoter (SNP309; rs2279744) causes elevated transcription of this major negative regulator of p53 in several cancer types. We investigated MDM2 SNP309 and CDKN1A (p21/Waf1/Cip1) codon 31 (rs1801270) polymorphisms in 86 cases of cutaneous Kaposi's sarcoma (KS) from African and Caucasian patients, and 210 healthy controls. A significant increase of the MDM2 SNP309 T/G genotype was observed among classic KS cases (odds ratio 2.38, 95% confidence interval 1.0-5.5). Frequencies of CDKN1A codon 31 genotypes were not significantly different between cases and controls. The results suggest that the MDM2 SNP309 G allele may act as a susceptibility gene for the development of classic KS in Caucasian patients.

摘要

一个单核苷酸多态性在 MDM2 启动子（SNP309；rs2279744）导致这个主要的负调控 p53 在几种癌症类型转录升高。我们研究了 MDM2 SNP309 和 CDKN1A（p21/Waf1/Cip1）密码子 31（rs1801270）多态性在 86 例来自非洲和高加索患者的皮肤卡波西肉瘤（KS）和 210 例健康对照者中。在经典 KS 病例中观察到 MDM2 SNP309 T/G 基因型显著增加（比值比 2.38，95%置信区间 1.0-5.5）。病例与对照组之间 CDKN1A 密码子 31 基因型的频率无显著差异。结果表明，MDM2 SNP309 G 等位基因可能是高加索患者发生经典 KS 的易感基因。