TY - JOUR
T1 - ESR1 gene variants, haplotypes and diplotypes may influence the risk of breast cancer and mammographic density
AU - Shamshiri, Asma Khorshid
AU - Afzaljavan, Fahimeh
AU - Alidoust, Maryam
AU - Taherian, Vahideh
AU - Vakili, Fatemeh
AU - Moezzi, Atefeh
AU - Shandiz, Fatemeh Homaei
AU - Farrokh, Donya
AU - Pasdar, Alireza
N1 - This work was based on the Master of Science thesis of Ms. Asma Khorshid Shamshiri and was financially supported by Mashhad University of Medical Sciences under Grant 981310.
PY - 2020/11
Y1 - 2020/11
N2 - Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case–control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31–0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17–0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.
AB - Breast cancer as the most common cancer worldwide is influenced by genetic and physiological factors. Based on some evidence indicating the role of estrogen receptor 1 gene (ESR1) in breast cancer development, in this study, the association of three common variations in ESR1 gene with breast cancer and density in an Iranian population was evaluated. In a case–control study, 400 blood samples were collected for DNA extraction and genotyping. Breast density was assessed using mammography. ESR1 rs6915267 (G/A), rs2077647 (C/T) and rs1801132 (C/G) were genotyped using ARMS-PCR method. PHASE program was used to estimate the haplotypes frequencies. Our data analysis showed rs6915267 GA genotype in the heterozygous (GA) as well as co-dominant models was associated with lower mammographic density. None of the three variations were associated with the breast cancer risk. Haplotype analysis indicated G-T-C haplotype of rs6915267, rs2077647 and rs1801132 [OR = 0.54, 95% CI (0.31–0.92), p = 0.025] and G-T/G-T diplotype of rs6915267-rs2077647 [OR = 0.38, 95% CI (0.17–0.86), p = 0.019] were associated with a decreased risk of breast cancer. ESR1 may affect density of the breast and its haplotypes may modulate breast cancer risk.
KW - Breast neoplasm
KW - Genetic variation
KW - Breast density
KW - Estrogen receptor
KW - Association study
KW - ESTROGEN-RECEPTOR-ALPHA
KW - GENOME-WIDE ASSOCIATION
KW - SUSCEPTIBILITY
KW - POLYMORPHISMS
UR - http://www.scopus.com/inward/record.url?scp=85093969380&partnerID=8YFLogxK
U2 - 10.1007/s11033-020-05823-7
DO - 10.1007/s11033-020-05823-7
M3 - Article
C2 - 33099762
VL - 47
SP - 8367
EP - 8375
JO - Molecular Biology Reports
JF - Molecular Biology Reports
SN - 0301-4851
ER -
