MicroRNA related polymorphisms and breast cancer risk
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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; dos Santos Silva, Isabel; 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; Le Marchand, Loic; 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, Sandrine; 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; Slager, Susan; Toland, Amanda 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; Collée, J Margriet; Jager, Agnes; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Giles, Graham G; McLean, Catriona; Brauch, Hiltrud; Brüning, Thomas; Ko, Yon-Dschun; Brenner, Hermann; 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; KConFab Investigators.
in: PLOS ONE, Jahrgang 9, Nr. 11, 01.01.2014, S. e109973.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 - dos Santos Silva, Isabel
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 - Le Marchand, Loic
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, Sandrine
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 - Slager, Susan
AU - Toland, Amanda 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 - Collée, J Margriet
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 - Brenner, Hermann
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
AU - KConFab Investigators
AU - Harth, Volker
PY - 2014/1/1
Y1 - 2014/1/1
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% 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.
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% 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.
U2 - 10.1371/journal.pone.0109973
DO - 10.1371/journal.pone.0109973
M3 - SCORING: Journal article
C2 - 25390939
VL - 9
SP - e109973
JO - PLOS ONE
JF - PLOS ONE
SN - 1932-6203
IS - 11
ER -