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.
| Original language | English |
|---|---|
| Article number | e109973 |
| Journal | PLoS One |
| Volume | 9 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 12 2014 |
ASJC Scopus subject areas
- Agricultural and Biological Sciences(all)
- Biochemistry, Genetics and Molecular Biology(all)
- Medicine(all)
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MicroRNA related polymorphisms and breast cancer risk. / Khan, Sofia; Greco, Dario; Michailidou, Kyriaki; Milne, Roger L.; Muranen, Taru A.; Heikkinen, Tuomas; Aaltonen, Kirsimari; Dennis, Joe; Bolla, Manjeet K.; Liu, Jianjun; Hall, Per; Irwanto, Astrid; Humphreys, Keith; Li, Jingmei; Czene, Kamila; Chang-Claude, Jenny; Hein, Rebecca; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Fletcher, Olivia; Peto, Julian; Silva, Isabel Dos Santos; Johnson, Nichola; Gibson, Lorna; Aitken, Zoe; Hopper, John L.; Tsimiklis, Helen; Bui, Minh; Makalic, Enes; Schmidt, Daniel F.; Southey, Melissa C.; Apicella, Carmel; Stone, Jennifer; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Adank, Muriel A.; Van Der Luijt, Rob B.; Meindl, Alfons; Schmutzler, Rita K.; Müller-Myhsok, Bertram; Lichtner, Peter; Turnbull, Clare; Rahman, Nazneen; Chanock, Stephen J.; Hunter, David J.; Cox, Angela; Cross, Simon S.; Reed, Malcolm W R; Schmidt, Marjanka K.; Broeks, Annegien; Van'T Veer, Laura J.; Hogervorst, Frans B.; Fasching, Peter A.; Schrauder, Michael G.; Ekici, Arif B.; Beckmann, Matthias W.; Bojesen, Stig E.; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; Benitez, Javier; Zamora, Pilar M.; Perez, Jose I A; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; March, Loic Le; Pharoah, Paul D P; Dunning, Alison M.; Shah, Mitul; Luben, Robert; Brown, Judith; Couch, Fergus J.; Wang, Xianshu; Vachon, Celine; Olson, Janet E.; Lambrechts, Diether; Moisse, Matthieu; Paridaens, Robert; Christiaens, Marie Rose; Guénel, Pascal; Truong, Thérèse; Laurent-Puig, Pierre; Mulot, Claire; Marme, Frederick; Burwinkel, Barbara; Schneeweiss, Andreas; Sohn, Christof; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Andrulis, Irene L.; Knight, Julia A.; Tchatchou, Srine; Mulligan, Anna Marie; Dörk, Thilo; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Anton-Culver, Hoda; Darabi, Hatef; Eriksson, Mikael; Garcia-Closas, Montserrat; Figueroa, Jonine; Lissowska, Jolanta; Brinton, Louise; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Van Asperen, Christi J.; Kristensen, Vessela N.; Australian Ovarian Cancer Study Group, Susan Slager; Tol, Ama E.; Ambrosone, Christine B.; Yannoukakos, Drakoulis; Lindblom, Annika; Margolin, Sara; Radice, Paolo; Peterlongo, Paolo; Barile, Monica; Mariani, Paolo; Hooning, Maartje J.; Martens, John W M; Margriet Collée, J.; Jager, Agnes; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Giles, Graham G.; McLean, Catriona; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon Dschun; The Genica Network, Hermann Brenner; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Simard, Jacques; Goldberg, Mark S.; Labrèche, France; Dumont, Martine; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Kataja, Vesa; Kosma, Veli Matti; Hartikainen, Jaana M.; Mannermaa, Arto; Hamann, Ute; Chenevix-Trench, Georgia; Blomqvist, Carl; Aittomäki, Kristiina; Easton, Douglas F.; Nevanlinna, Heli.
In: PLoS One, Vol. 9, No. 11, e109973, 12.11.2014.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - MicroRNA related polymorphisms and breast cancer risk
AU - Khan, Sofia
AU - Greco, Dario
AU - Michailidou, Kyriaki
AU - Milne, Roger L.
AU - Muranen, Taru A.
AU - Heikkinen, Tuomas
AU - Aaltonen, Kirsimari
AU - Dennis, Joe
AU - Bolla, Manjeet K.
AU - Liu, Jianjun
AU - Hall, Per
AU - Irwanto, Astrid
AU - Humphreys, Keith
AU - Li, Jingmei
AU - Czene, Kamila
AU - Chang-Claude, Jenny
AU - Hein, Rebecca
AU - Rudolph, Anja
AU - Seibold, Petra
AU - Flesch-Janys, Dieter
AU - Fletcher, Olivia
AU - Peto, Julian
AU - Silva, Isabel Dos Santos
AU - Johnson, Nichola
AU - Gibson, Lorna
AU - Aitken, Zoe
AU - Hopper, John L.
AU - Tsimiklis, Helen
AU - Bui, Minh
AU - Makalic, Enes
AU - Schmidt, Daniel F.
AU - Southey, Melissa C.
AU - Apicella, Carmel
AU - Stone, Jennifer
AU - Waisfisz, Quinten
AU - Meijers-Heijboer, Hanne
AU - Adank, Muriel A.
AU - Van Der Luijt, Rob B.
AU - Meindl, Alfons
AU - Schmutzler, Rita K.
AU - Müller-Myhsok, Bertram
AU - Lichtner, Peter
AU - Turnbull, Clare
AU - Rahman, Nazneen
AU - Chanock, Stephen J.
AU - Hunter, David J.
AU - Cox, Angela
AU - Cross, Simon S.
AU - Reed, Malcolm W R
AU - Schmidt, Marjanka K.
AU - Broeks, Annegien
AU - Van'T Veer, Laura J.
AU - Hogervorst, Frans B.
AU - Fasching, Peter A.
AU - Schrauder, Michael G.
AU - Ekici, Arif B.
AU - Beckmann, Matthias W.
AU - Bojesen, Stig E.
AU - Nordestgaard, Børge G.
AU - Nielsen, Sune F.
AU - Flyger, Henrik
AU - Benitez, Javier
AU - Zamora, Pilar M.
AU - Perez, Jose I A
AU - Haiman, Christopher A.
AU - Henderson, Brian E.
AU - Schumacher, Fredrick
AU - March, Loic Le
AU - Pharoah, Paul D P
AU - Dunning, Alison M.
AU - Shah, Mitul
AU - Luben, Robert
AU - Brown, Judith
AU - Couch, Fergus J.
AU - Wang, Xianshu
AU - Vachon, Celine
AU - Olson, Janet E.
AU - Lambrechts, Diether
AU - Moisse, Matthieu
AU - Paridaens, Robert
AU - Christiaens, Marie Rose
AU - Guénel, Pascal
AU - Truong, Thérèse
AU - Laurent-Puig, Pierre
AU - Mulot, Claire
AU - Marme, Frederick
AU - Burwinkel, Barbara
AU - Schneeweiss, Andreas
AU - Sohn, Christof
AU - Sawyer, Elinor J.
AU - Tomlinson, Ian
AU - Kerin, Michael J.
AU - Miller, Nicola
AU - Andrulis, Irene L.
AU - Knight, Julia A.
AU - Tchatchou, Srine
AU - Mulligan, Anna Marie
AU - Dörk, Thilo
AU - Bogdanova, Natalia V.
AU - Antonenkova, Natalia N.
AU - Anton-Culver, Hoda
AU - Darabi, Hatef
AU - Eriksson, Mikael
AU - Garcia-Closas, Montserrat
AU - Figueroa, Jonine
AU - Lissowska, Jolanta
AU - Brinton, Louise
AU - Devilee, Peter
AU - Tollenaar, Robert A E M
AU - Seynaeve, Caroline
AU - Van Asperen, Christi J.
AU - Kristensen, Vessela N.
AU - Australian Ovarian Cancer Study Group, Susan Slager
AU - Tol, Ama E.
AU - Ambrosone, Christine B.
AU - Yannoukakos, Drakoulis
AU - Lindblom, Annika
AU - Margolin, Sara
AU - Radice, Paolo
AU - Peterlongo, Paolo
AU - Barile, Monica
AU - Mariani, Paolo
AU - Hooning, Maartje J.
AU - Martens, John W M
AU - Margriet Collée, J.
AU - Jager, Agnes
AU - Jakubowska, Anna
AU - Lubinski, Jan
AU - Jaworska-Bieniek, Katarzyna
AU - Durda, Katarzyna
AU - Giles, Graham G.
AU - McLean, Catriona
AU - Brauch, Hiltrud
AU - Brüning, Thomas
AU - Ko, Yon Dschun
AU - The Genica Network, Hermann Brenner
AU - Dieffenbach, Aida Karina
AU - Arndt, Volker
AU - Stegmaier, Christa
AU - Swerdlow, Anthony
AU - Ashworth, Alan
AU - Orr, Nick
AU - Jones, Michael
AU - Simard, Jacques
AU - Goldberg, Mark S.
AU - Labrèche, France
AU - Dumont, Martine
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Jukkola-Vuorinen, Arja
AU - Grip, Mervi
AU - Kataja, Vesa
AU - Kosma, Veli Matti
AU - Hartikainen, Jaana M.
AU - Mannermaa, Arto
AU - Hamann, Ute
AU - Chenevix-Trench, Georgia
AU - Blomqvist, Carl
AU - Aittomäki, Kristiina
AU - Easton, Douglas F.
AU - Nevanlinna, Heli
PY - 2014/11/12
Y1 - 2014/11/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84912002894&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84912002894&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0109973
DO - 10.1371/journal.pone.0109973
M3 - Article
C2 - 25390939
AN - SCOPUS:84912002894
VL - 9
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 11
M1 - e109973
ER -