title: A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis.
abstract: BACKGROUND
  Genome-wide association studies have reported that a polymorphism near the estrogen receptor gene (ESR1) (rs2046210) is associated with a risk of breast cancer, with the A allele conferring an increased risk. However, considering the controversial results from more recent replicated studies, we conducted a case-control study in an independent Chinese Han population and a meta-analysis to clarify the association of this polymorphism with breast cancer risk.
  
  
  RESULTS
  A hospital-based case-control study including 461 cases and 537 controls from a Chinese Han population was conducted initially, and this study showed that the rs2046210 A allele was significantly associated with breast cancer risk, with an OR of 1.32 (95% CI  = 1.10-1.59). Subsequently, a meta-analysis integrating the current study and previous publications with a total of 53,379 cases and 55,493 controls was performed to further confirm our findings. Similarly, a significant association between this polymorphism and breast cancer risk was also observed in the overall population especially among Asians, with ORs for per A allele of 1.14 (95% CI  = 1.10-1.18) in the overall population and 1.27 (95% CI  = 1.23-1.31) in the Asian population.
  
  
  CONCLUSIONS
  Our results provide strong evidence to support that the common polymorphism near the ESR1 gene, rs2046210, is associated with an increased risk of breast cancer in Asian and European populations but not in Africans, although the biological mechanisms need to be further investigated.
authors.affiliation: Department of Breast and Thyroid Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Guo
authors.forename: Jie
authors.initials: J
authors.lastname: Ming
authors.forename: Chunping
authors.initials: C
authors.lastname: Liu
authors.forename: Zhi
authors.initials: Z
authors.lastname: Li
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.forename: Hongtao
authors.initials: H
authors.lastname: Cheng
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Shi
authors.forename: Na
authors.initials: N
authors.lastname: Shen
authors.forename: Qunzi
authors.initials: Q
authors.lastname: Zhao
authors.forename: Dapeng
authors.initials: D
authors.lastname: Li
authors.forename: Pengfei
authors.initials: P
authors.lastname: Yi
authors.forename: Longqiang
authors.initials: L
authors.lastname: Wang
authors.forename: Rui
authors.initials: R
authors.lastname: Wang
authors.forename: Yue
authors.initials: Y
authors.lastname: Xin
authors.forename: Xiangwang
authors.initials: X
authors.lastname: Zhao
authors.forename: Xiu
authors.initials: X
authors.lastname: Nie
authors.forename: Tao
authors.initials: T
authors.lastname: Huang
mesh_terms: D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology / Q000208:ethnology; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D044382:Population Groups / Q000235:genetics; D017594:Publication Bias; D012306:Risk
chemical_list: D047628:Estrogen Receptor alpha