墨西哥人群乳腺癌中ESR1基因rs2234693和rs9340799多态性的关联

Association of rs2234693 and rs9340799 polymorphisms of ESR1 gene in breast cancer of Mexican population.

作者信息

Carrillo-Moreno Dalia Ivette, Eduardo Figuera Luis, Zuniga González Guillermo M, Puebla Perez Ana Maria, Jesus Moran Mendoza Andres de, Gallegos Arreola Martha Patricia

机构信息

Genetics and Molecular Medicine Divisions, Western Biomedical Research Center, Western National Medical Center, Mexican Institute of Social Security, Guadalajara, Jalisco, Mexico.

出版信息

J BUON. 2019 Sep-Oct;24(5):1927-1933.

PMID:31786857

Abstract

PURPOSE

The rs2234693 and rs9340799 ESR1 polymorphisms have shown contradictory results in studies of breast cancer (BC). The purpose of this study was to determine the frequency and association of ESR1 polymorphisms (rs2234693 and rs9340799) in BC patients of Mexican population.

METHODS

PCR was used to genotype rs2234693 and rs9340799 polymorphisms in the ESR1 gene in Mexican healthy subjects and breast cancer (BC) patients.

RESULTS

The frequency of cases and control groups of rs2234693 and rs9340799 polymorphisms in the ESR1 was similar, and none has shown any association with increased BC risk (p>0.05), although the association between the haplogenotypes (rs2234693 and rs9340799 polymorphisms) and BC patients with miscarriages [CTAG variant, adjusted odds ratio (OR) 1.83 (95%CI 1.17-2.86);p=0.011] and tobacco consumption [CCGG variant, adjusted OR 1.88 (95%CI 1.11-3.19);p=0.018] was evident. Also, the homozygous genotype TT [rs2234693, OR 1.49 (95%CI 1.02-2.19);p=0.042] and GG [rs9340799, OR 2.85 (95%CI 1.144-7.10);p=0.024] showed marginal association with BC, indicating that these factors may contribute significantly to the susceptibility of risk to BC. The TA haplotype was more common in controls than in CG. BC patients with a frequency around 0.71 among study groups, but without significant difference (p>0.05).

CONCLUSION

rs2234693 and rs9340799 polymorphisms in the ESR1 gene were not associated with susceptibility for BC. However, the haplogenotypes CTAG and CCGG of rs2234693 and rs9340799 polymorphisms could contribute significantly to the susceptibility of risk in BC positive at miscarriage and tobacco consumption in this sample population.

摘要

目的

在乳腺癌（BC）研究中，ESR1基因的rs2234693和rs9340799多态性呈现出相互矛盾的结果。本研究的目的是确定墨西哥人群BC患者中ESR1多态性（rs2234693和rs9340799）的频率及关联性。

方法

采用聚合酶链反应（PCR）对墨西哥健康受试者和乳腺癌（BC）患者的ESR1基因中的rs2234693和rs9340799多态性进行基因分型。

结果

ESR1基因中rs2234693和rs9340799多态性的病例组和对照组频率相似，且均未显示出与BC风险增加有任何关联（p>0.05），不过单倍型（rs2234693和rs9340799多态性）与有流产史的BC患者[CTAG变异型，校正比值比（OR）1.83（95%可信区间1.17 - 2.86）；p = 0.011]以及吸烟患者[CCGG变异型，校正OR 1.88（95%可信区间1.11 - 3.19）；p = 0.018]之间的关联是明显的。此外，纯合基因型TT [rs2234693，OR 1.49（95%可信区间1.02 - 2.19）；p = 0.042]和GG [rs9340799，OR 2.85（95%可信区间1.144 - 7.10）；p = 0.024]与BC呈现出边缘关联，表明这些因素可能对BC风险易感性有显著影响。TA单倍型在对照组中比在CG组中更常见。在研究组中，BC患者的频率约为0.71，但无显著差异（p>0.05）。