Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
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Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). / Jim, Heather S L; Lin, Hui-Yi; Tyrer, Jonathan P; Lawrenson, Kate; Dennis, Joe; Chornokur, Ganna; Chen, Zhihua; Chen, Ann Y; Permuth-Wey, Jennifer; Aben, Katja Kh; Anton-Culver, Hoda; Antonenkova, Natalia; Bruinsma, Fiona; Bandera, Elisa V; Bean, Yukie T; Beckmann, Matthias W; Bisogna, Maria; Bjorge, Line; Bogdanova, Natalia; Brinton, Louise A; Brooks-Wilson, Angela; Bunker, Clareann H; Butzow, Ralf; Campbell, Ian G; Carty, Karen; Chang-Claude, Jenny; Cook, Linda S; Cramer, Daniel W; Cunningham, Julie M; Cybulski, Cezary; Dansonka-Mieszkowska, Agnieszka; du Bois, Andreas; Despierre, Evelyn; Sieh, Weiva; Doherty, Jennifer A; Dörk, Thilo; Dürst, Matthias; Easton, Douglas F; Eccles, Diana M; Edwards, Robert P; Ekici, Arif B; Fasching, Peter A; Fridley, Brooke L; Gao, Yu-Tang; Gentry-Maharaj, Aleksandra; Giles, Graham G; Glasspool, Rosalind; Goodman, Marc T; Gronwald, Jacek; Harter, Philipp; Hasmad, Hanis N; Hein, Alexander; Heitz, Florian; Hildebrandt, Michelle A T; Hillemanns, Peter; Hogdall, Claus K; Hogdall, Estrid; Hosono, Satoyo; Iversen, Edwin S; Jakubowska, Anna; Jensen, Allan; Ji, Bu-Tian; Karlan, Beth Y; Kellar, Melissa; Kiemeney, Lambertus A; Krakstad, Camilla; Kjaer, Susanne K; Kupryjanczyk, Jolanta; Vierkant, Robert A; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu D; Lee, Alice W; Lele, Shashi; Leminen, Arto; Lester, Jenny; Levine, Douglas A; Liang, Dong; Lim, Boon Kiong; Lissowska, Jolanta; Lu, Karen; Lubinski, Jan; Lundvall, Lene; Massuger, Leon F A G; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; McNeish, Ian; Menon, Usha; Milne, Roger L; Modugno, Francesmary; Thomsen, Lotte; Moysich, Kirsten B; Ness, Roberta B; Nevanlinna, Heli; Eilber, Ursula; Odunsi, Kunle; Olson, Sara H; Orlow, Irene; Orsulic, Sandra; Palmieri Weber, Rachel; Paul, James; Pearce, Celeste L; Pejovic, Tanja; Pelttari, Liisa M; Pike, Malcolm C; Poole, Elizabeth M; Schernhammer, Eva; Risch, Harvey A; Rosen, Barry; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo B; Rzepecka, Iwona K; Salvesen, Helga B; Schwaab, Ira; Shu, Xiao-Ou; Shvetsov, Yurii B; Siddiqui, Nadeem; Song, Honglin; Southey, Melissa C; Spiewankiewicz, Beata; Sucheston-Campbell, Lara; Teo, Soo-Hwang; Terry, Kathryn L; Thompson, Pamela J; Tangen, Ingvild L; Tworoger, Shelley S; van Altena, Anne M; Vergote, Ignace; Walsh, Christine S; Wang-Gohrke, Shan; Wentzensen, Nicolas; Whittemore, Alice S; Wicklund, Kristine G; Wilkens, Lynne R; Wu, Anna H; Wu, Xifeng; Woo, Yin-Ling; Yang, Hannah; Zheng, Wei; Ziogas, Argyrios; Amankwah, Ernest; Berchuck, Andrew; Schildkraut, Joellen M; Kelemen, Linda E; Ramus, Susan J; Monteiro, Alvaro N A; Goode, Ellen L; Narod, Steven A; Gayther, Simon A; Pharoah, Paul D P; Sellers, Thomas A; Phelan, Catherine M; Georgia Chenevix-Trench on behalf of the AOCS management group 95,96.
In: J Genet Genome Res, Vol. 2, No. 2, 15.09.2015, p. 2 - 11.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
AU - Jim, Heather S L
AU - Lin, Hui-Yi
AU - Tyrer, Jonathan P
AU - Lawrenson, Kate
AU - Dennis, Joe
AU - Chornokur, Ganna
AU - Chen, Zhihua
AU - Chen, Ann Y
AU - Permuth-Wey, Jennifer
AU - Aben, Katja Kh
AU - Anton-Culver, Hoda
AU - Antonenkova, Natalia
AU - Bruinsma, Fiona
AU - Bandera, Elisa V
AU - Bean, Yukie T
AU - Beckmann, Matthias W
AU - Bisogna, Maria
AU - Bjorge, Line
AU - Bogdanova, Natalia
AU - Brinton, Louise A
AU - Brooks-Wilson, Angela
AU - Bunker, Clareann H
AU - Butzow, Ralf
AU - Campbell, Ian G
AU - Carty, Karen
AU - Chang-Claude, Jenny
AU - Cook, Linda S
AU - Cramer, Daniel W
AU - Cunningham, Julie M
AU - Cybulski, Cezary
AU - Dansonka-Mieszkowska, Agnieszka
AU - du Bois, Andreas
AU - Despierre, Evelyn
AU - Sieh, Weiva
AU - Doherty, Jennifer A
AU - Dörk, Thilo
AU - Dürst, Matthias
AU - Easton, Douglas F
AU - Eccles, Diana M
AU - Edwards, Robert P
AU - Ekici, Arif B
AU - Fasching, Peter A
AU - Fridley, Brooke L
AU - Gao, Yu-Tang
AU - Gentry-Maharaj, Aleksandra
AU - Giles, Graham G
AU - Glasspool, Rosalind
AU - Goodman, Marc T
AU - Gronwald, Jacek
AU - Harter, Philipp
AU - Hasmad, Hanis N
AU - Hein, Alexander
AU - Heitz, Florian
AU - Hildebrandt, Michelle A T
AU - Hillemanns, Peter
AU - Hogdall, Claus K
AU - Hogdall, Estrid
AU - Hosono, Satoyo
AU - Iversen, Edwin S
AU - Jakubowska, Anna
AU - Jensen, Allan
AU - Ji, Bu-Tian
AU - Karlan, Beth Y
AU - Kellar, Melissa
AU - Kiemeney, Lambertus A
AU - Krakstad, Camilla
AU - Kjaer, Susanne K
AU - Kupryjanczyk, Jolanta
AU - Vierkant, Robert A
AU - Lambrechts, Diether
AU - Lambrechts, Sandrina
AU - Le, Nhu D
AU - Lee, Alice W
AU - Lele, Shashi
AU - Leminen, Arto
AU - Lester, Jenny
AU - Levine, Douglas A
AU - Liang, Dong
AU - Lim, Boon Kiong
AU - Lissowska, Jolanta
AU - Lu, Karen
AU - Lubinski, Jan
AU - Lundvall, Lene
AU - Massuger, Leon F A G
AU - Matsuo, Keitaro
AU - McGuire, Valerie
AU - McLaughlin, John R
AU - McNeish, Ian
AU - Menon, Usha
AU - Milne, Roger L
AU - Modugno, Francesmary
AU - Thomsen, Lotte
AU - Moysich, Kirsten B
AU - Ness, Roberta B
AU - Nevanlinna, Heli
AU - Eilber, Ursula
AU - Odunsi, Kunle
AU - Olson, Sara H
AU - Orlow, Irene
AU - Orsulic, Sandra
AU - Palmieri Weber, Rachel
AU - Paul, James
AU - Pearce, Celeste L
AU - Pejovic, Tanja
AU - Pelttari, Liisa M
AU - Pike, Malcolm C
AU - Poole, Elizabeth M
AU - Schernhammer, Eva
AU - Risch, Harvey A
AU - Rosen, Barry
AU - Rossing, Mary Anne
AU - Rothstein, Joseph H
AU - Rudolph, Anja
AU - Runnebaum, Ingo B
AU - Rzepecka, Iwona K
AU - Salvesen, Helga B
AU - Schwaab, Ira
AU - Shu, Xiao-Ou
AU - Shvetsov, Yurii B
AU - Siddiqui, Nadeem
AU - Song, Honglin
AU - Southey, Melissa C
AU - Spiewankiewicz, Beata
AU - Sucheston-Campbell, Lara
AU - Teo, Soo-Hwang
AU - Terry, Kathryn L
AU - Thompson, Pamela J
AU - Tangen, Ingvild L
AU - Tworoger, Shelley S
AU - van Altena, Anne M
AU - Vergote, Ignace
AU - Walsh, Christine S
AU - Wang-Gohrke, Shan
AU - Wentzensen, Nicolas
AU - Whittemore, Alice S
AU - Wicklund, Kristine G
AU - Wilkens, Lynne R
AU - Wu, Anna H
AU - Wu, Xifeng
AU - Woo, Yin-Ling
AU - Yang, Hannah
AU - Zheng, Wei
AU - Ziogas, Argyrios
AU - Amankwah, Ernest
AU - Berchuck, Andrew
AU - Schildkraut, Joellen M
AU - Kelemen, Linda E
AU - Ramus, Susan J
AU - Monteiro, Alvaro N A
AU - Goode, Ellen L
AU - Narod, Steven A
AU - Gayther, Simon A
AU - Pharoah, Paul D P
AU - Sellers, Thomas A
AU - Phelan, Catherine M
AU - Georgia Chenevix-Trench on behalf of the AOCS management group 95,96
PY - 2015/9/15
Y1 - 2015/9/15
N2 - Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadian genes are highly expressed in the ovaries where they regulate ovulation; circadian disruption is associated with several ovarian cancer risk factors (e.g., endometriosis). However, no studies have examined variation in germline circadian genes as predictors of ovarian cancer risk and invasiveness. The goal of the current study was to examine single nucleotide polymorphisms (SNPs) in circadian genes BMAL1, CRY2, CSNK1E, NPAS2, PER3, REV1 and TIMELESS and downstream transcription factors KLF10 and SENP3 as predictors of risk of epithelial ovarian cancer (EOC) and histopathologic subtypes. The study included a test set of 3,761 EOC cases and 2,722 controls and a validation set of 44,308 samples including 18,174 (10,316 serous) cases and 26,134 controls from 43 studies participating in the Ovarian Cancer Association Consortium (OCAC). Analysis of genotype data from 36 genotyped SNPs and 4600 imputed SNPs indicated that the most significant association was rs117104877 in BMAL1 (OR = 0.79, 95% CI = 0.68-0.90, p = 5.59 × 10(-4)]. Functional analysis revealed a significant down regulation of BMAL1 expression following cMYC overexpression and increasing transformation in ovarian surface epithelial (OSE) cells as well as alternative splicing of BMAL1 exons in ovarian and granulosa cells. These results suggest that variation in circadian genes, and specifically BMAL1, may be associated with risk of ovarian cancer, likely through disruption of hormonal pathways.
AB - Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadian genes are highly expressed in the ovaries where they regulate ovulation; circadian disruption is associated with several ovarian cancer risk factors (e.g., endometriosis). However, no studies have examined variation in germline circadian genes as predictors of ovarian cancer risk and invasiveness. The goal of the current study was to examine single nucleotide polymorphisms (SNPs) in circadian genes BMAL1, CRY2, CSNK1E, NPAS2, PER3, REV1 and TIMELESS and downstream transcription factors KLF10 and SENP3 as predictors of risk of epithelial ovarian cancer (EOC) and histopathologic subtypes. The study included a test set of 3,761 EOC cases and 2,722 controls and a validation set of 44,308 samples including 18,174 (10,316 serous) cases and 26,134 controls from 43 studies participating in the Ovarian Cancer Association Consortium (OCAC). Analysis of genotype data from 36 genotyped SNPs and 4600 imputed SNPs indicated that the most significant association was rs117104877 in BMAL1 (OR = 0.79, 95% CI = 0.68-0.90, p = 5.59 × 10(-4)]. Functional analysis revealed a significant down regulation of BMAL1 expression following cMYC overexpression and increasing transformation in ovarian surface epithelial (OSE) cells as well as alternative splicing of BMAL1 exons in ovarian and granulosa cells. These results suggest that variation in circadian genes, and specifically BMAL1, may be associated with risk of ovarian cancer, likely through disruption of hormonal pathways.
UR - http://clinmedjournals.org/articles/jggr/journal-of-genetics-and-genome-research-jggr-2-017.pdf
M3 - SCORING: Journal article
C2 - 26807442
VL - 2
SP - 2
EP - 11
JO - J Genet Genome Res
JF - J Genet Genome Res
SN - 2378-3648
IS - 2
ER -