Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/91491
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Type: | Journal article |
Title: | MicroRNA related polymorphisms and breast cancer risk |
Author: | Khan, S. Greco, D. Michailidou, K. Milne, R. Muranen, T. Heikkinen, T. Aaltonen, K. Dennis, J. Bolla, M. Liu, J. Hall, P. Irwanto, A. Humphreys, K. Li, J. Czene, K. Chang-Claude, J. Hein, R. Rudolph, A. Seibold, P. Flesch-Janys, D. et al. |
Citation: | PLoS One, 2014; 9(11):e109973-1-e109973-12 |
Publisher: | Public Library of Science |
Issue Date: | 2014 |
ISSN: | 1932-6203 1932-6203 |
Editor: | Zhao, Z. |
Statement of Responsibility: | Sofia Khan ... kConFab Investigators, Australian Ovarian Cancer Study Group, ... The GENICA Network ... et al. |
Abstract: | Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88–0.96), rs1052532 (OR 0.97; 95% CI: 0.95–0.99), rs10719 (OR 0.97; 95% CI: 0.94–0.99), rs4687554 (OR 0.97; 95% CI: 0.95–0.99, and rs3134615 (OR 1.03; 95% CI: 1.01–1.05) located in the 3′ UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects. |
Keywords: | kConFab Investigators Australian Ovarian Cancer Study Group GENICA Network Humans Breast Neoplasms Receptors, Estrogen MicroRNAs 3' Untranslated Regions Case-Control Studies Chromosome Mapping Computational Biology Binding Sites Genotype Polymorphism, Single Nucleotide Female Genome-Wide Association Study |
Description: | Martin Oehler is a member of the Australian Ovarian Cancer Study Group |
Rights: | This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. |
DOI: | 10.1371/journal.pone.0109973 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/199600 http://purl.org/au-research/grants/nhmrc/145684 http://purl.org/au-research/grants/nhmrc/288704 http://purl.org/au-research/grants/nhmrc/454508 |
Published version: | http://dx.doi.org/10.1371/journal.pone.0109973 |
Appears in Collections: | Aurora harvest 7 Paediatrics publications |
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hdl_91491.pdf | Published version | 437.62 kB | Adobe PDF | View/Open |
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