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. 2022 May 10:10:e13379.
doi: 10.7717/peerj.13379. eCollection 2022.

ESR2 gene variants (rs1256049, rs4986938, and rs1256030) and their association with breast cancer risk

Martha Patricia Gallegos-Arreola  1 , Guillermo M Zúñiga-González  2 , Luis E Figuera  1 , Ana María Puebla-Pérez  3 , María Guadalupe Márquez-Rosales  1 , Belinda Claudia Gómez-Meda  4 , Mónica Alejandra Rosales-Reynoso  2
Affiliations

ESR2 gene variants (rs1256049, rs4986938, and rs1256030) and their association with breast cancer risk

Martha Patricia Gallegos-Arreola et al. PeerJ. .

Abstract

Background: Variants of the estrogen receptor b (ESR2) gene have been associated with different types of cancer. However, these associations have been inconsistent. We genotyped the ESR2 variants (rs1256049, rs4986938, and rs1256030) in breast cancer (BC) patients and in healthy women.

Results: The variants rs1256049 and rs4986938 in the ESR2 gene were not associated with risk susceptibility in BC patients. However, the rs1256030 variant had an association as a risk factor for BC patients when compared with controls and BC patients for the TT genotype (odds ratio (OR) 1.86, 95% confidence intervals (CI) [1.05-3.28], p = 0.042). In addition, differences were observed in patients and controls carrying the TT genotype under 50 years of age (OR 1.85, 95% CI [1.05-3.27], p = 0.043). Thus, evident differences showed the rs1256030 variant in patients with TT, TC, and TC+TT genotypes with: (1) Stage IV (OR 1.60, 95% CI [1.06-2.54], p = 0.033), and (2) Luminal A (OR 1.60, 95% CI [0.47-0.21], p = 0.041), as well as in BC carriers of the TT genotype with indices of cellular proliferative (Ki-67) elevated (>20%) and overweight (OR 1.67, 95% CI [0.85-3.28], p = 0.041), respectively. In BC HER2 with lymph node metastasis, the TT genotype was a protective factor (OR 0.38, 95% CI [0.18-0.78], p = 0.005). The identification of haplotypes included two common GAT as risk factors (OR 3.1, 95% CI [1.31-7.72], p = 0.011) and GGC as a protective factor (OR 0.7, 95% CI [0.60-0.97], p = 0.034). The haplogenotype GGGATC was a risk factor (OR 2.5, 95% CI [1.28-5.0], p = 0.008).

Conclusion: The variant rs1256030 (TT) of the ESR2 gene and haplotype GAT were associated with susceptibility to BC as risk factors in this sample from the Mexican population.

Keywords: Breast cancer; ESR2; Polymorphisms; Variants; rs1256030; rs1256049; rs4986938.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1. Electrophoretic running on 6% polyacrylamide gel (29:1).
(A) Rsa I digestion. Genotypes GG (321 bp), AA (211 + 110 bp). (B) Alu I digestion. Genotypes GG (442 bp) and AA (336 + 106 bp). (C) Alu I digestion. Genotypes CC (227 + 24 bp), TC (227 + 147 + 80 + 24 bp) and TT (147 + 80 + 24 bp). M represents 50 bp DNA ladder.
Figure 2
Figure 2. Linkage disequilibrium of the rs1256049 and rs1256030 polymorphisms of ESR2.
Genes were found to be in strong linkage disequilibrium (D′ = 1.0 and r′ = 1.0). The rs4986938 variant was moderately LD of rs1256049 variant.
See this image and copyright information in PMC

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