Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pone.0109973
Title: MicroRNA related polymorphisms and breast cancer risk
Authors: Khan S.
Greco D.
Michailidou K.
Milne R.L.
Muranen T.A.
Heikkinen T.
Aaltonen K.
Dennis J.
Bolla M.K.
Liu J.
Hall P.
Irwanto A.
Humphreys K.
Li J. 
Czene K.
Chang-Claude J.
Hein R.
Rudolph A.
Seibold P.
Flesch-Janys D.
Fletcher O.
Peto J.
Silva I.D.S.
Johnson N.
Gibson L.
Aitken Z.
Hopper J.L.
Tsimiklis H.
Bui M.
Makalic E.
Schmidt D.F.
Southey M.C.
Apicella C.
Stone J.
Waisfisz Q.
Meijers-Heijboer H.
Adank M.A.
Van Der Luijt R.B.
Meindl A.
Schmutzler R.K.
Müller-Myhsok B.
Lichtner P.
Turnbull C.
Rahman N.
Chanock S.J.
Hunter D.J.
Cox A.
Cross S.S.
Reed M.W.R.
Schmidt M.K.
Broeks A.
Van'T Veer L.J.
Hogervorst F.B.
Fasching P.A.
Schrauder M.G.
Ekici A.B.
Beckmann M.W.
Bojesen S.E.
Nordestgaard B.G.
Nielsen S.F.
Flyger H.
Benitez J.
Zamora P.M.
Perez J.I.A.
Haiman C.A.
Henderson B.E.
Schumacher F.
March L.L.
Pharoah P.D.P.
Dunning A.M.
Shah M.
Luben R.
Brown J.
Couch F.J.
Wang X.
Vachon C.
Olson J.E.
Lambrechts D.
Moisse M.
Paridaens R.
Christiaens M.-R.
Guénel P.
Truong T.
Laurent-Puig P.
Mulot C.
Marme F.
Burwinkel B.
Schneeweiss A.
Sohn C.
Sawyer E.J.
Tomlinson I.
Kerin M.J.
Miller N.
Andrulis I.L.
Knight J.A.
Tchatchou S.
Mulligan A.M.
Dörk T.
Bogdanova N.V.
Antonenkova N.N.
Anton-Culver H.
Darabi H.
Eriksson M.
Garcia-Closas M.
Figueroa J.
Lissowska J.
Brinton L.
Devilee P.
Tollenaar R.A.E.M.
Seynaeve C.
Van Asperen C.J.
Kristensen V.N.
Australian Ovarian Cancer Study Group S.S.
Tol A.E.
Ambrosone C.B.
Yannoukakos D.
Lindblom A.
Margolin S.
Radice P.
Peterlongo P.
Barile M.
Mariani P.
Hooning M.J.
Martens J.W.M.
Margriet Collée J.
Jager A.
Jakubowska A.
Lubinski J.
Jaworska-Bieniek K.
Durda K.
Giles G.G.
McLean C.
Brauch H.
Brüning T.
Ko Y.-D.
The Genica Network H.B.
Dieffenbach A.K.
Arndt V.
Stegmaier C.
Swerdlow A.
Ashworth A.
Orr N.
Jones M.
Simard J.
Goldberg M.S.
Labrèche F.
Dumont M.
Winqvist R.
Pylkäs K.
Jukkola-Vuorinen A.
Grip M.
Kataja V.
Kosma V.-M.
Hartikainen J.M.
Mannermaa A.
Hamann U.
Chenevix-Trench G.
Blomqvist C.
Aittomäki K.
Easton D.F.
Nevanlinna H.
Keywords: caspase 8
microRNA
3' untranslated region
estrogen receptor
microRNA
3' untranslated region
adult
allele
apoptosis
Article
binding site
breast cancer
cancer risk
cancer susceptibility
CASP8 gene
controlled study
disease association
DROSHA gene
estrogen receptor positive breast cancer
ethnic group
female
gene
gene expression regulation
gene function
genetic association
genotype
HDDC3 gene
human
major clinical study
MUSTN1 gene
MYCL1 gene
RNA processing
single nucleotide polymorphism
biology
Breast Neoplasms
case control study
chromosome map
genetics
metabolism
3' Untranslated Regions
Binding Sites
Breast Neoplasms
Case-Control Studies
Chromosome Mapping
Computational Biology
Female
Genome-Wide Association Study
Genotype
Humans
MicroRNAs
Polymorphism, Single Nucleotide
Receptors, Estrogen
Issue Date: 2014
Citation: Khan S., Greco D., Michailidou K., Milne R.L., Muranen T.A., Heikkinen T., Aaltonen K., Dennis J., Bolla M.K., Liu J., Hall P., Irwanto A., Humphreys K., Li J., Czene K., Chang-Claude J., Hein R., Rudolph A., Seibold P., Flesch-Janys D., Fletcher O., Peto J., Silva I.D.S., Johnson N., Gibson L., Aitken Z., Hopper J.L., Tsimiklis H., Bui M., Makalic E., Schmidt D.F., Southey M.C., Apicella C., Stone J., Waisfisz Q., Meijers-Heijboer H., Adank M.A., Van Der Luijt R.B., Meindl A., Schmutzler R.K., Müller-Myhsok B., Lichtner P., Turnbull C., Rahman N., Chanock S.J., Hunter D.J., Cox A., Cross S.S., Reed M.W.R., Schmidt M.K., Broeks A., Van'T Veer L.J., Hogervorst F.B., Fasching P.A., Schrauder M.G., Ekici A.B., Beckmann M.W., Bojesen S.E., Nordestgaard B.G., Nielsen S.F., Flyger H., Benitez J., Zamora P.M., Perez J.I.A., Haiman C.A., Henderson B.E., Schumacher F., March L.L., Pharoah P.D.P., Dunning A.M., Shah M., Luben R., Brown J., Couch F.J., Wang X., Vachon C., Olson J.E., Lambrechts D., Moisse M., Paridaens R., Christiaens M.-R., Guénel P., Truong T., Laurent-Puig P., Mulot C., Marme F., Burwinkel B., Schneeweiss A., Sohn C., Sawyer E.J., Tomlinson I., Kerin M.J., Miller N., Andrulis I.L., Knight J.A., Tchatchou S., Mulligan A.M., Dörk T., Bogdanova N.V., Antonenkova N.N., Anton-Culver H., Darabi H., Eriksson M., Garcia-Closas M., Figueroa J., Lissowska J., Brinton L., Devilee P., Tollenaar R.A.E.M., Seynaeve C., Van Asperen C.J., Kristensen V.N., Australian Ovarian Cancer Study Group S.S., Tol A.E., Ambrosone C.B., Yannoukakos D., Lindblom A., Margolin S., Radice P., Peterlongo P., Barile M., Mariani P., Hooning M.J., Martens J.W.M., Margriet Collée J., Jager A., Jakubowska A., Lubinski J., Jaworska-Bieniek K., Durda K., Giles G.G., McLean C., Brauch H., Brüning T., Ko Y.-D., The Genica Network H.B., Dieffenbach A.K., Arndt V., Stegmaier C., Swerdlow A., Ashworth A., Orr N., Jones M., Simard J., Goldberg M.S., Labrèche F., Dumont M., Winqvist R., Pylkäs K., Jukkola-Vuorinen A., Grip M., Kataja V., Kosma V.-M., Hartikainen J.M., Mannermaa A., Hamann U., Chenevix-Trench G., Blomqvist C., Aittomäki K., Easton D.F., Nevanlinna H. (2014). MicroRNA related polymorphisms and breast cancer risk. PLoS ONE 9 (11) : e109973. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0109973
Rights: Attribution 4.0 International
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% Cl: 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. This is an open-access article free of all copyright.
Source Title: PLoS ONE
URI: https://scholarbank.nus.edu.sg/handle/10635/161759
ISSN: 19326203
DOI: 10.1371/journal.pone.0109973
Rights: Attribution 4.0 International
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