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Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.

Publication ,  Journal Article
O'Brien, KM; Cole, SR; Poole, C; Bensen, JT; Herring, AH; Engel, LS; Millikan, RC
Published in: American journal of epidemiology
February 2014

Genome-wide association studies (GWAS) and candidate gene analyses have led to the discovery of several dozen genetic polymorphisms associated with breast cancer susceptibility, many of which are considered well-established risk factors for the disease. Despite attempts to replicate these same variant-disease associations in African Americans, the evaluable populations are often too small to produce precise or consistent results. We estimated the associations between 83 previously identified single nucleotide polymorphisms (SNPs) and breast cancer among Carolina Breast Cancer Study (1993-2001) participants using maximum likelihood, Bayesian, and hierarchical methods. The selected SNPs were previous GWAS hits (n = 22), near-hits (n = 19), otherwise well-established risk loci (n = 5), or located in the same genes as selected variants (n = 37). We successfully replicated 18 GWAS-identified SNPs in whites (n = 2,352) and 10 in African Americans (n = 1,447). SNPs in the fibroblast growth factor receptor 2 gene (FGFR2) and the TOC high mobility group box family member 3 gene (TOX3) were strongly associated with breast cancer in both races. SNPs in the mitochondrial ribosomal protein S30 gene (MRPS30), mitogen-activated protein kinase kinase kinase 1 gene (MAP3K1), zinc finger, MIZ-type containing 1 gene (ZMIZ1), and H19, imprinted maternally expressed transcript gene (H19) were associated with breast cancer in whites, and SNPs in the estrogen receptor 1 gene (ESR1) and H19 gene were associated with breast cancer in African Americans. We provide precise and well-informed race-stratified odds ratios for key breast cancer-related SNPs. Our results demonstrate the utility of Bayesian methods in genetic epidemiology and provide support for their application in small, etiologically driven investigations.

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Published In

American journal of epidemiology

DOI

EISSN

1476-6256

ISSN

0002-9262

Publication Date

February 2014

Volume

179

Issue

3

Start / End Page

382 / 394

Related Subject Headings

  • White People
  • Risk Factors
  • Registries
  • Polymorphism, Single Nucleotide
  • Odds Ratio
  • North Carolina
  • Middle Aged
  • Logistic Models
  • Likelihood Functions
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
O’Brien, K. M., Cole, S. R., Poole, C., Bensen, J. T., Herring, A. H., Engel, L. S., & Millikan, R. C. (2014). Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. American Journal of Epidemiology, 179(3), 382–394. https://doi.org/10.1093/aje/kwt258
O’Brien, Katie M., Stephen R. Cole, Charles Poole, Jeannette T. Bensen, Amy H. Herring, Lawrence S. Engel, and Robert C. Millikan. “Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.American Journal of Epidemiology 179, no. 3 (February 2014): 382–94. https://doi.org/10.1093/aje/kwt258.
O’Brien KM, Cole SR, Poole C, Bensen JT, Herring AH, Engel LS, et al. Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. American journal of epidemiology. 2014 Feb;179(3):382–94.
O’Brien, Katie M., et al. “Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.American Journal of Epidemiology, vol. 179, no. 3, Feb. 2014, pp. 382–94. Epmc, doi:10.1093/aje/kwt258.
O’Brien KM, Cole SR, Poole C, Bensen JT, Herring AH, Engel LS, Millikan RC. Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. American journal of epidemiology. 2014 Feb;179(3):382–394.
Journal cover image

Published In

American journal of epidemiology

DOI

EISSN

1476-6256

ISSN

0002-9262

Publication Date

February 2014

Volume

179

Issue

3

Start / End Page

382 / 394

Related Subject Headings

  • White People
  • Risk Factors
  • Registries
  • Polymorphism, Single Nucleotide
  • Odds Ratio
  • North Carolina
  • Middle Aged
  • Logistic Models
  • Likelihood Functions
  • Humans