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乳腺癌相关单核苷酸多态性及其在墨西哥女性中的风险贡献。

Breast cancer-related single-nucleotide polymorphism and their risk contribution in Mexican women.

机构信息

Pharmacogenetics Laboratory, UMIEZ, FES-Zaragoza, UNAM, Mexico City, Mexico.

Pharmacological Biochemistry Laboratory, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Mexico City, Mexico.

出版信息

J Cancer Res Ther. 2020 Oct-Dec;16(6):1279-1286. doi: 10.4103/jcrt.JCRT_14_20.

Abstract

CONTEXT

Four single-nucleotide polymorphisms (SNPs) in Mexican patients and their association with the development of breast cancer (BC).

AIMS

This work is focused on determining the association of fibroblast growth factor receptor (rs12196489), TOX3 (rs3803662), human telomerase reverse transcriptase (h TERT, rs10069690), and FTO (rs17817449) polymorphisms and BC in a cohort of Mexican women.

SETTINGS AND DESIGN

The study included 56 patients with a confirmed diagnosis of BC and 83 controls. Clinical characteristics were obtained from medical records.

SUBJECTS AND METHODS

Genomic DNA from the samples was obtained from lymphocytes, and the genotyping of rs12196489, rs3803662, rs10069690, and rs17817449 polymorphisms was performed by real-time polymerase chain reaction using specific TaqMan probes. Statistical analysis was assessed to evaluate the distribution of genotype frequencies between cases and controls.

STATISTICAL ANALYSIS

We used the STATA Statistical Package (version 10.1; STATA Corp., College Station, TX, USA). Student's t-test, χ test, or Fisher's exact test was used to evaluate the distribution of genotype frequencies.

RESULTS

No statistical differences in allelic and genotypic frequencies were found between patients with BC and controls for SNPs: rs1219648, rs3803662, and rs17817449. Interestingly, according to the χ test, a significant difference was exhibited for rs10069690 (odds ratio = 0.095; 95% confidence interval = 0.038-0.214; P < 0.001).

CONCLUSIONS

The h TERT (rs10069690) polymorphism might be associated with BC in Mexican women. Nevertheless, additional studies in a larger cohort are required to confirm this association and to possibly use this polymorphism as a potential biomarker in the early diagnosis of BC.

摘要

背景

在墨西哥患者中发现了四个单核苷酸多态性(SNPs),并与乳腺癌(BC)的发生有关。

目的

本工作旨在确定成纤维细胞生长因子受体(rs12196489)、TOX3(rs3803662)、人端粒酶逆转录酶(h TERT,rs10069690)和 FTO(rs17817449)多态性与墨西哥女性乳腺癌的相关性。

设置和设计

该研究纳入了 56 名确诊为乳腺癌的患者和 83 名对照。从病历中获得临床特征。

受试者和方法

从样本的淋巴细胞中提取基因组 DNA,并通过实时聚合酶链反应使用特定的 TaqMan 探针对 rs12196489、rs3803662、rs10069690 和 rs17817449 多态性进行基因分型。评估统计分析以评估病例和对照组之间基因型频率的分布。

统计学分析

我们使用 STATA 统计软件包(版本 10.1;STATA 公司,德克萨斯州学院站)。使用学生 t 检验、卡方检验或 Fisher 精确检验评估基因型频率的分布。

结果

在 SNP:rs1219648、rs3803662 和 rs17817449 方面,乳腺癌患者与对照组之间的等位基因和基因型频率无统计学差异。有趣的是,根据卡方检验,rs10069690 显示出显著差异(比值比=0.095;95%置信区间=0.038-0.214;P<0.001)。

结论

h TERT(rs10069690)多态性可能与墨西哥女性的乳腺癌有关。然而,需要在更大的队列中进行更多的研究来证实这种关联,并可能将这种多态性用作乳腺癌早期诊断的潜在生物标志物。

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