Genetic Analysis of GPR30/GPER-1 Polymorphisms and Their Association with Breast Cancer Risk in the Iranian Population

Document Type : Research Articles

Authors

Fatemeh Fathi

Ahmad Hamta

Department of Biology, Faculty of Basic Sciences, Arak University, Arak, Iran

https://doi.org/10.22067/jcmr.2025.94523.1118

Abstract

Breast cancer is the second most common cancer worldwide and the most prevalent cancer among women, causing a large number of deaths annually. This fact underscores the importance of studying the risk factors, diagnostic methods, and treatments for this disease. Single-nucleotide polymorphisms are the most common type of genetic variation in eukaryotic genomes and are found in many genes associated with various cancers. Depending on their location within different regions of a gene, these genetic variants can differently affect gene expression and cancer susceptibility. In this case-control study, we investigated the single-nucleotide polymorphisms of the GPR30/GPER-1 gene, including rs3808350, rs3808351, and rs11544331, and their association with breast cancer risk. The study was conducted on 70 breast cancer patients and 70 healthy women from the female population of Markazi Province, Iran. Blood samples were collected from all participants, and DNA was extracted. The target polymorphisms were genotyped using the tetra-primer amplification refractory mutation system PCR (tetra-ARMS PCR) method. Data analysis was performed using SPSS Statistics 26 and SNP Analyzer 2 software. The results showed a significant association between the AG genotype (co-dominant model) and the combined GG and AG genotypes (dominant model) of rs3808350, indicating an increased risk of breast cancer. For rs11544331, the TT genotype (recessive model) and the combined TT and CT genotypes (dominant model) were also significantly associated with higher risk. No significant association was observed for rs3808351. In conclusion, rs3808350 and rs11544331 polymorphisms may serve as potential biomarkers for early detection and risk assessment of breast cancer. Identifying such genetic markers could enhance diagnostic accuracy and support the development of personalized prevention and treatment strategies.

Keywords

GPER

rs3808350

rs3808351

rs11544331

SNP

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