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基因变异rs1047972和rs8173与乳腺癌相关。

Gene Variants rs1047972, and rs8173 Are Associated With Breast Cancer.

作者信息

Maciel-Cruz Eric Jonathan, Figuera-Villanueva Luis Eduardo, Garibaldi-Ríos Asbiel Felipe, Gómez-Meda Belinda Claudia, Zúñiga-González Guillermo Moisés, Pérez Ana María, Castro-García Paola B, Ramírez-Patiño Ramiro, Gallegos-Arreola Martha Patricia

机构信息

División de Genética, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, México.

Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara (UdeG), Guadalajara, México.

出版信息

J Breast Cancer. 2023 Aug;26(4):378-390. doi: 10.4048/jbc.2023.26.e31. Epub 2023 Jul 14.

Abstract

PURPOSE

Association between variants rs1047972 and rs8173 of the 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 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; = 0.0015) and the T allele (OR, 1.16; 95% CI, 1.23-2.12; = 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; = 0.029) was associated as a protective factor of susceptibility of BC of the variant rs8173 of the 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 ( < 0.05). Two common haplotypes were identified in the study groups: CG and TC genotypes, were associated as a protective and risk factor, respectively ( < 0.05).

CONCLUSION

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

摘要

目的

研究墨西哥人群中健康女性的某基因变体rs1047972和rs8173与乳腺癌(BC)之间的关联。

方法

采用聚合酶链反应-限制性片段长度多态性方法,对409名健康女性和572例乳腺癌患者的基因组DNA样本进行基因变体rs1047972和rs8173分析。

结果

相对于对照组,rs1047972变体的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)与乳腺癌风险易感性相关。相反,rs8173变体的GG基因型(OR,0.64;95% CI,0.43 - 0.94;P = 0.029)与该基因rs8173变体的乳腺癌易感性保护因素相关。在rs1047972变体CT基因型携带者的乳腺癌患者中,观察到与超重、肥胖、雌激素受体阳性加肥胖、Ki-67(≥20%)加癌症家族史阳性之间的差异;对于rs8173变体,CG携带者的乳腺癌患者出现化疗胃毒性、激素受体阳性加化疗胃毒性以及绝经状态加化疗胃毒性(P < 0.05)。在研究组中鉴定出两种常见单倍型:CG和TC基因型,分别与保护因素和风险因素相关(P < 0.05)。

结论

该基因的rs1047972和rs8173变体以及TC单倍型与该人群乳腺癌风险易感性因素相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05c7/10475707/66492d63ae35/jbc-26-378-g001.jpg

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