AURKA基因变异rs1047972和rs8173与乳腺癌相关

IF 2.2 4区 医学 Q3 ONCOLOGY Journal of Breast Cancer Pub Date : 2023-08-01 DOI:10.4048/jbc.2023.26.e31
Eric Jonathan Maciel-Cruz, Luis Eduardo Figuera-Villanueva, Asbiel Felipe Garibaldi-Ríos, Belinda Claudia Gómez-Meda, Guillermo Moisés Zúñiga-González, Ana María Pérez, Paola B Castro-García, Ramiro Ramírez-Patiño, Martha Patricia Gallegos-Arreola
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摘要

目的:健康女性AURKA基因rs1047972和rs8173变异与墨西哥人群乳腺癌(BC)之间的关系。方法:采用聚合酶链反应-限制性片段长度多态性分析409例健康女性和572例BC患者的AURKA基因rs1047972和rs8173变异。结果:TT基因型(优势比[OR], 2.5;95%置信区间[CI], 1.22-5.11;p = 0.0015)和T等位基因(OR, 1.16;95% ci, 1.23-2.12;p = 0.0007)的rs1047972变异与对照组的BC风险易感性相关。相反,GG基因型(OR, 0.64;95% ci, 0.43-0.94;p = 0.029)是AURKA基因变异rs8173对BC易感性的保护因素。在携带rs1047972变异CT基因型的BC患者中,超重、肥胖、雌激素受体阳性加肥胖、Ki-67(≥20%)加癌症家族史阳性的患者存在差异;对于rs8173变体,CG携带者出现化疗胃毒性、激素受体阳性加化疗胃毒性、绝经期加化疗胃毒性的BC患者发生差异(p < 0.05)。在研究组中发现了两种常见的单倍型:CG和TC基因型,分别作为保护因素和危险因素相关(p < 0.05)。结论:AURKA基因rs1047972和rs8173变异和TC单倍型是该人群BC的危险易感因素。
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AURKA Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer.

Purpose: Association between variants rs1047972 and rs8173 of the AURKA gene in healthy women and breast cancer (BC) in a Mexican population.

Methods: Genomic DNA samples from 409 healthy women and 572 patients with BC were analyzed for variants rs1047972 and rs8173 of the AURKA gene by polymerase chain reaction-restriction fragment length polymorphism.

Results: TT genotype (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.22-5.11; p = 0.0015) and the T allele (OR, 1.16; 95% CI, 1.23-2.12; p = 0.0007) of the rs1047972 variant were associated as risk susceptibility for BC relative to the control group. Contrarily, the GG genotype (OR, 0.64; 95% CI, 0.43-0.94; p = 0.029) was associated as a protective factor of susceptibility of BC of the variant rs8173 of the AURKA gene. Differences were observed in the patients with BC who were carriers of the CT genotype of the rs1047972 variant with overweight, obesity, estrogen receptor-positive plus obesity, Ki-67 (≥ 20%) plus history familial positive of cancer; and for variant rs8173 the BC patients who were CG carriers and presented chemotherapy gastric toxicity, hormonal receptor positive plus chemotherapy gastric toxicity, and menopause status plus chemotherapy gastric toxicity (p < 0.05). Two common haplotypes were identified in the study groups: CG and TC genotypes, were associated as a protective and risk factor, respectively (p < 0.05).

Conclusion: Variants rs1047972 and rs8173 of the AURKA gene and the TC haplotype were associated as risk susceptibility factors for BC in this population.

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来源期刊
Journal of Breast Cancer
Journal of Breast Cancer 医学-肿瘤学
CiteScore
3.80
自引率
4.20%
发文量
43
审稿时长
6-12 weeks
期刊介绍: The Journal of Breast Cancer (abbreviated as ''J Breast Cancer'') is the official journal of the Korean Breast Cancer Society, which is issued quarterly in the last day of March, June, September, and December each year since 1998. All the contents of the Journal is available online at the official journal website (http://ejbc.kr) under open access policy. The journal aims to provide a forum for the academic communication between medical doctors, basic science researchers, and health care professionals to be interested in breast cancer. To get this aim, we publish original investigations, review articles, brief communications including case reports, editorial opinions on the topics of importance to breast cancer, and welcome new research findings and epidemiological studies, especially when they contain a regional data to grab the international reader''s interest. Although the journal is mainly dealing with the issues of breast cancer, rare cases among benign breast diseases or evidence-based scientifically written articles providing useful information for clinical practice can be published as well.
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