Polymorphisms in the promoter region of ESR2 gene and breast cancer susceptibility

Genetic variations like single nucleotide polymorphisms (SNPs) in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to affect breast cancer susceptibility. In this study we tested the hypothesis that polymorphisms in the promoter of ESR2 gene may be asso...

Full description

Saved in:
Bibliographic Details
Published in:The Journal of steroid biochemistry and molecular biology 2009-04, Vol.114 (3), p.207-211
Main Authors: Treeck, Oliver, Elemenler, Esma, Kriener, Christina, Horn, Felicitas, Springwald, Anette, Hartmann, Arndt, Ortmann, Olaf
Format: Article
Language:English
Subjects:
Biological and medical sciences
Breast cancer
Breast Neoplasms - genetics
Case control study
Case-Control Studies
Cell receptors
Cell structures and functions
DNA Mutational Analysis
Estrogen receptor beta
Estrogen Receptor beta - genetics
Female
Fundamental and applied biological sciences. Psychology
Genetic Predisposition to Disease
Genotype
Hormone receptors. Growth factor receptors. Cytokine receptors. Prostaglandin receptors
Humans
Middle Aged
Molecular and cellular biology
Polymorphism, Genetic
Promoter Regions, Genetic - genetics
Single nucleotide polymorphism
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Genetic variations like single nucleotide polymorphisms (SNPs) in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to affect breast cancer susceptibility. In this study we tested the hypothesis that polymorphisms in the promoter of ESR2 gene may be associated with increased risk for breast cancer. We analyzed three SNPs in the promoter region of human ESR2 gene by means of allele-specific tetra-primer PCR. A total of 318 sporadic breast cancer cases and 318 age-matched controls were included in the study. With regard to homozygous genotypes, women with sporadic breast cancer more frequently carried the CC genotype of ESR2 promoter SNP rs2987983 (OR 1.99, p = 0.005). Calculation of allele positivity demonstrated that presence of T allele of this SNP was more frequent in healthy women. Our data suggest that a SNP in the promoter region of ESR2 gene might be able to affect breast cancer risk. These results further support the emerging hypothesis that ERβ is an important factor in breast cancer development.
ISSN:0960-0760
1879-1220
DOI:10.1016/j.jsbmb.2009.02.012