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dc.contributor.authorChacon Cortes, Diego
dc.contributor.authorSmith, Robert
dc.contributor.authorHaupt, Larisa
dc.contributor.authorLea, Rodney
dc.contributor.authorYoul, Philippa
dc.contributor.authorGriffiths, Lyn
dc.date.accessioned2017-08-03T01:32:03Z
dc.date.available2017-08-03T01:32:03Z
dc.date.issued2015
dc.identifier.issn1471-2350
dc.identifier.doi10.1186/s12881-015-0248-0
dc.identifier.urihttp://hdl.handle.net/10072/141524
dc.description.abstractBackground: 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.
dc.description.peerreviewedYes
dc.languageenglish
dc.language.isoeng
dc.publisherBioMed Central
dc.relation.ispartofpagefrom107-1
dc.relation.ispartofpageto107-11
dc.relation.ispartofissue1
dc.relation.ispartofjournalBMC Medical Genetics
dc.relation.ispartofvolume16
dc.subject.fieldofresearchGenetics not elsewhere classified
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchcode060499
dc.subject.fieldofresearchcode0604
dc.subject.fieldofresearchcode1103
dc.titleGenetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://creativecommons.org/licenses/by/4.0/
dc.description.versionVersion of Record (VoR)
gro.facultyGriffith Health, School of Medical Science
gro.rights.copyright© Chacon-Cortes et al. 2015. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
gro.hasfulltextFull Text
gro.griffith.authorHaupt, Larisa
gro.griffith.authorGriffiths, Lyn
gro.griffith.authorLea, Rodney A.
gro.griffith.authorSmith, Robert A.
gro.griffith.authorYoul, Philippa
gro.griffith.authorChacon Cortes, Diego F.


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