Relationships of physical and breast cancer phenotypes with three single-nucleotide polymorphisms (rs2046210, rs3757318, and rs3803662) associated with breast cancer risk in Japanese women

Autor: Setsuko Ishihara, Yutaka Ogasawara, Kengo Kawada, Hiroyoshi Doihara, Yoko Suzuki, Minami Hatono, Hiroshi Kawai, Takayuki Iwamoto, Yuko Abe, Hirokuni Ikeda, Naruto Taira, Keiko Nishiyama, Tadahiko Shien, Yukiko Kajiwara, Takahiro Tsukioki, Mariko Kochi, Shinichi Toyooka, Yoichi Ishibe, Kensuke Kawasaki, Taeko Mizoo
Rok vydání: 2020
Předmět:
0301 basic medicine
Oncology
medicine.medical_specialty
Receptor
ErbB-2
Estrogen receptor
Single-nucleotide polymorphism
Breast Neoplasms
medicine.disease_cause
Polymorphism
Single Nucleotide
03 medical and health sciences
0302 clinical medicine
Breast cancer
Gene Frequency
Japan
Risk Factors
Internal medicine
Progesterone receptor
medicine
Humans
Pharmacology (medical)
Radiology
Nuclear Medicine and imaging
Genetic Predisposition to Disease
Allele
skin and connective tissue diseases
Alleles
Genetic association
Breast Density
business.industry
Body Weight
Estrogen Receptor alpha
General Medicine
Middle Aged
medicine.disease
Body Height
030104 developmental biology
Phenotype
Receptors
Estrogen
030220 oncology & carcinogenesis
Case-Control Studies
Female
Carcinogenesis
business
Receptors
Progesterone
Estrogen receptor alpha
Zdroj: Breast cancer (Tokyo, Japan). 28(2)
ISSN: 1880-4233
Popis: Recent genome-wide association studies have shown that many single-nucleotide polymorphisms (SNPs) are associated with breast cancer risk. However, it is often unclear how these SNPs are related to breast cancer. Analysis of associations between SNPs and phenotypes may be important for determining mechanisms of action, including carcinogenesis. In previous case–control studies, we found three SNPs (rs2046210, rs3757318, and rs3573318) associated with breast cancer risk in Japanese women. Among these SNPs, two (rs2046210 and rs3757318) are located at 6q25.1, in proximity to the estrogen receptor 1 gene (ESR1). Using data from these studies, we examined associations between factors related to breast cancer risk, such as height, weight, and breast density, and the three SNPs in cases and controls. We also investigated whether the SNPs correlated with breast cancer features, such as estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth factor receptor type-2 (HER2) status, and clinical stage. There was a significant difference in mean height between risk and non-risk allele carriers for rs2046210 (156.0 ± 5.8 vs. 154.3 ± 5.5 cm, p = 0.002), and rs3757318 (155.8 ± 5.7 vs. 154.7 ± 5.6 cm, p = 0.035) in cases, but no significant associations between height and these SNPs in controls. There was also a significant difference in breast density between risk and non-risk allele carriers for rs2046210 (p = 0.040) and rs3757318 (p = 0.044) in cases. rs2046210 and rs3757318 risk allele carriers tended to have higher breast density in all subjects and in controls. In cases, rs3757318 risk allele carriers were also significantly more likely to be ER-negative compared to non-risk allele carriers (ER-positive rate: 77% vs. 84%, p = 0.036). SNPs rs2046210 and rs3757318, which are associated with breast cancer risk in Japanese women, were significantly associated with height and high breast density, and this association was particularly strong in those with breast cancer. These findings suggest that SNPs in the ESR1 gene region affect phenotypes such as height and breast density.
Databáze: OpenAIRE
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