Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Heather S L Jim
  • Hui-Yi Lin
  • Jonathan P Tyrer
  • Kate Lawrenson
  • Joe Dennis
  • Ganna Chornokur
  • Zhihua Chen
  • Y Ann Chen
  • Jennifer Permuth-Wey
  • Katja Kh Aben
  • Hoda Anton-Culver
  • Natalia Antonenkova
  • Fiona Bruinsma
  • Elisa V Bandera
  • Yukie T Bean
  • Matthias W Beckmann
  • Maria Bisogna
  • Line Bjorge
  • Natalia Bogdanova
  • Louise A Brinton
  • Angela Brooks-Wilson
  • Clareann H Bunker
  • Ralf Butzow
  • Ian G Campbell
  • Karen Carty
  • Jenny Chang-Claude
  • Linda S Cook
  • Daniel W Cramer
  • Julie M Cunningham
  • Cezary Cybulski
  • Agnieszka Dansonka-Mieszkowska
  • Andreas Du Bois
  • Evelyn Despierre
  • Weiva Sieh
  • Jennifer A Doherty
  • Thilo Doerk
  • Matthias Durst
  • Douglas F Easton
  • Diana M Eccles
  • Robert P Edwards
  • Arif B Ekici
  • Peter A Fasching
  • Brooke L Fridley
  • Yu-Tang Gao
  • Aleksandra Gentry-Maharaj
  • Graham Giles
  • Rosalind M Glasspool
  • Marc T Goodman
  • Jacek Gronwald
  • Philipp Harter
  • Hanis N. Hasmad
  • Alexander Hein
  • Florian Heitz
  • Michelle A T Hildebrandt
  • Peter Hillemanns
  • Estrid Hogdall
  • Satoyo Hosono
  • Edwin S Iversen
  • Anna Jakubowska
  • Allan Jensen
  • Bu-Tian Ji
  • Beth Y Karlan
  • Melissa Kellar
  • Lambertus A Kiemeney
  • Camilla Krakstad
  • Jolanta Kupryjanczyk
  • Robert A Vierkant
  • Diether Lambrechts
  • Sandrina Lambrechts
  • Nhu D Le
  • Alice W Lee
  • Shashi Lele
  • Arto Leminen
  • Jenny Lester
  • Douglas A Levine
  • Dong Liang
  • Boon Kiong Lim
  • Jolanta Lissowska
  • Karen Lu
  • Jan Lubinski
  • Lene Lundvall
  • Leon F A G Massuger
  • Keitaro Matsuo
  • Valerie McGuire
  • John R McLaughlin
  • Ian McNeish
  • Usha Menon
  • Roger L Milne
  • Francesmary Modugno
  • Lotte Thomsen
  • Kirsten B Moysich
  • Roberta B Ness
  • Heli Nevanlinna
  • Ursula Eilber
  • Kunle Odunsi
  • Sara H Olson
  • Irene Orlow
  • Sandra Orsulic
  • Rachel Palmieri Weber
  • James Paul
  • Celeste L Pearce
  • Tanja Pejovic
  • Liisa M Pelttari
  • Malcolm C Pike
  • Elizabeth M Poole
  • Eva Schernhammer
  • Harvey A Risch
  • Barry Rosen
  • Mary Anne Rossing
  • Joseph H Rothstein
  • Anja Rudolph
  • Ingo B Runnebaum
  • Iwona K Rzepecka
  • Helga B Salvesen
  • Ira Schwaab
  • Xiao-Ou Shu
  • Yurii B Shvetsov
  • Nadeem Siddiqui
  • Honglin Song
  • Melissa C Southey
  • Beata Spiewankiewicz
  • Lara Sucheston-Campbell
  • Soo-Hwang Teo
  • Kathryn L Terry
  • Pamela J Thompson
  • Ingvild L Tangen
  • Shelley S Tworoger
  • Anne M van Altena
  • Ignace Vergote
  • Christine S Walsh
  • Shan Wang-Gohrke
  • Nicolas Wentzensen
  • Alice S Whittemore
  • Kristine G Wicklund
  • Lynne R Wilkens
  • Anna H Wu
  • Xifeng Wu
  • Yin Ling Woo
  • Hannah Yang
  • Wei Zheng
  • Argyrios Ziogas
  • Ernest K Amankwah
  • Andrew Berchuck
  • Joellen M Schildkraut
  • Linda E Kelemen
  • Susan J Ramus
  • Alvaro N A Monteiro
  • Ellen L Goode
  • Steven A Narod
  • Simon A Gayther
  • Paul P D Pharoah
  • Thomas A Sellers
  • Catherine M Phelan

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.

OriginalsprogEngelsk
Artikelnummer017
TidsskriftJournal of genetics and genome research
Vol/bind2
Udgave nummer2
ISSN2378-3648
DOI
StatusUdgivet - 2016

ID: 176965699