CYP19（芳香化酶）基因中的简单串联重复序列（TTTA）n多态性与尼日利亚女性乳腺癌风险

Simple tandem repeat (TTTA)n polymorphism in CYP19 (aromatase) gene and breast cancer risk in Nigerian women.

作者信息

Okobia Michael N, Bunker Clareann H, Zmuda Joseph M, Ezeome Emmanuel R, Anyanwu Stanley N C, Uche Emmanuel E O, Ojukwu Joseph, Kuller Lewis H, Ferrell Robert E

机构信息

Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.

出版信息

J Carcinog. 2006 May 9;5:12. doi: 10.1186/1477-3163-5-12.

DOI:10.1186/1477-3163-5-12

PMID:16684355

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1475832/

Abstract

BACKGROUND

Breast cancer is the most common cancer and the leading cause of cancer related deaths in women worldwide. The incidence of the disease is increasing globally and this increase is occurring at a faster rate in population groups that hirtherto enjoyed low incidence. This study was designed to evaluate the role of a simple tandem repeat polymorphism (STRP) in the aromatase (CYP19) gene in breast cancer susceptibility in Nigerian women, a population of indigenous sub-Saharan African ancestry.

METHODS

A case-control study recruiting 250 women with breast cancer and 250 women without the disease from four University Teaching Hospitals in Southern Nigeria was carried out between September 2002 and April 2004. Participants were recruited from the surgical outpatient clinics and surgical wards of the Nigerian institutions. A polymerase chain reaction (PCR)-based assay was employed for genotyping and product sizes were detected with an ABI 3730 DNA Analyzer.

RESULTS

Conditional logistic regression analysis revealed that harboring the putative high risk genotypes conferred a 29% increased risk of breast cancer when all women in the study were considered (Odds ratio [OR] = 1.29, 95% confidence interval [CI] 0.83-2.00), although this association was not statistically significant. Subgroup analysis based on menopausal status showed similar results among premenopausal women (OR = 1.35, 95% CI 0.76-2.41 and postmenopausal women (OR = 1.27, 95% CI 0.64-2.49). The data also demonstrated marked differences in the distribution of (TTTA)n repeats in Nigerian women compared with other populations.

CONCLUSION

This study has shown that harboring 10 or more repeats of the microsatellite (TTTA)n repeats of the CYY19 gene is associated with a modest increased risk of breast cancer in Nigerian women.

摘要

背景

乳腺癌是全球女性中最常见的癌症，也是癌症相关死亡的主要原因。该疾病的发病率在全球范围内呈上升趋势，且在以往发病率较低的人群中上升速度更快。本研究旨在评估芳香化酶（CYP19）基因中的一种简单串联重复多态性（STRP）在尼日利亚女性乳腺癌易感性中的作用，尼日利亚女性为撒哈拉以南非洲本土血统人群。

方法

2002年9月至2004年4月间，在尼日利亚南部的四家大学教学医院开展了一项病例对照研究，招募了250名乳腺癌女性患者和250名无该疾病的女性。参与者从尼日利亚各机构的外科门诊和外科病房招募。采用基于聚合酶链反应（PCR）的检测方法进行基因分型，并使用ABI 3730 DNA分析仪检测产物大小。

结果

条件逻辑回归分析显示，当考虑研究中的所有女性时，携带假定的高风险基因型会使患乳腺癌的风险增加29%（优势比[OR]=1.29，95%置信区间[CI]0.83 - 2.00），尽管这种关联在统计学上并不显著。基于绝经状态的亚组分析在绝经前女性（OR = 1.35，95% CI 0.76 - 2.41）和绝经后女性（OR = 1.27，95% CI 0.64 - 2.49）中显示出相似结果。数据还表明，与其他人群相比，尼日利亚女性中（TTTA）n重复序列的分布存在显著差异。