title: Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility.
abstract: BACKGROUND
  MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic variants studied in relation to breast cancer. Studies aimed at identifying miRNA SNPs (miR-SNPs) associated with breast malignancies could lead towards further understanding of the disease and to develop clinical applications for early diagnosis and treatment.
  
  
  METHODS
  We genotyped a panel of 24 miR-SNPs using multiplex PCR and chip-based matrix assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry (MS) analysis in two Caucasian breast cancer case control populations (Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls). Association to breast cancer susceptibility was determined using chi-square (X (2) ) and odds ratio (OR) analysis.
  
  
  RESULTS
  Statistical analysis showed six miR-SNPs to be non-polymorphic and twelve of our selected miR-SNPs to have no association with breast cancer risk. However, we were able to show association between rs353291 (located in MIR145) and the risk of developing breast cancer in two independent case control cohorts (p = 0.041 and p = 0.023).
  
  
  CONCLUSIONS
  Our study is the first to report an association between a miR-SNP in MIR145 and breast cancer risk in individuals of Caucasian background. This finding requires further validation through genotyping of larger cohorts or in individuals of different ethnicities to determine the potential significance of this finding as well as studies aimed to determine functional significance.
authors.affiliation: Genomics Research Centre, Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, Queensland, 4059, Australia.|Griffith Health Institute, Griffith University, Griffit, Queensland, Australia.
authors.forename: Diego
authors.initials: D
authors.lastname: Chacon-Cortes
authors.affiliation: Genomics Research Centre, Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, Queensland, 4059, Australia.|Griffith Health Institute, Griffith University, Griffit, Queensland, Australia.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Smith
authors.affiliation: Genomics Research Centre, Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, Queensland, 4059, Australia.|Griffith Health Institute, Griffith University, Griffit, Queensland, Australia.
authors.forename: Larisa M
authors.initials: LM
authors.lastname: Haupt
authors.affiliation: Genomics Research Centre, Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, Queensland, 4059, Australia.|Griffith Health Institute, Griffith University, Griffit, Queensland, Australia.
authors.forename: Rodney A
authors.initials: RA
authors.lastname: Lea
authors.affiliation: Griffith Health Institute, Griffith University, Griffit, Queensland, Australia.|Cancer Council Queensland, Brisbane, Queensland, Australia.|School of Public Health, Queensland University of Technology, Brisbane, Queensland, Australia.
authors.forename: Philippa H
authors.initials: PH
authors.lastname: Youl
authors.affiliation: Genomics Research Centre, Institute of Health and Biomedical Innovation, Queensland University of Technology, 60 Musk Avenue, Kelvin Grove, Queensland, 4059, Australia. lyn.griffiths@qut.edu.au.|Griffith Health Institute, Griffith University, Griffit, Queensland, Australia. lyn.griffiths@qut.edu.au.
authors.forename: Lyn R
authors.initials: LR
authors.lastname: Griffiths
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D035683:MicroRNAs / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: C541010:MIRN145 microRNA, human; D035683:MicroRNAs