2015
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Coetzee S, Shen H, Hazelett D, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie S, Levanon K, Karst A, Drapkin R, Ramus S, Consortium T, Couch F, Offit K, Chenevix-Trench G, Monteiro A, Antoniou A, Freedman M, Coetzee G, Pharoah P, Noushmehr H, Gayther S, Consortium T, Tyrer J, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, James P, Jensen A, Ji B, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tsai Y, Tworoger S, Tyrer J, van Altena A, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A. Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Human Molecular Genetics 2015, 24: 3595-3607. PMID: 25804953, PMCID: PMC4459387, DOI: 10.1093/hmg/ddv101.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCell typesOvarian cancer susceptibility lociSusceptibility lociFunctional targetSusceptibility variantsComplex trait geneticsRegulatory DNA elementsMost single nucleotide polymorphismsEpithelial cellsHigh-grade serous ovarian cancerHuman mammary epithelial cellsCancer susceptibility lociRisk single nucleotide polymorphismsMammary epithelial cellsNormal human mammary epithelial cellsRisk-associated single nucleotide polymorphismsDifferent cell typesOvarian surface epithelial cellsWide annotationPrecursor cell typesOpen chromatinRegulatory variationGenetic susceptibility variantsHistone modifications
2014
Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus
Palles C, Chegwidden L, Li X, Findlay JM, Farnham G, Giner F, Peppelenbosch MP, Kovac M, Adams CL, Prenen H, Briggs S, Harrison R, Sanders S, MacDonald D, Haigh C, Tucker A, Love S, Nanji M, deCaestecker J, Ferry D, Rathbone B, Hapeshi J, Barr H, Moayyedi P, Watson P, Zietek B, Maroo N, Gay L, Underwood T, Boulter L, McMurtry H, Monk D, Patel P, Ragunath K, Al Dulaimi D, Murray I, Koss K, Veitch A, Trudgill N, Nwokolo C, Rembacken B, Atherfold P, Green E, Ang Y, Kuipers EJ, Chow W, Paterson S, Kadri S, Beales I, Grimley C, Mullins P, Beckett C, Farrant M, Dixon A, Kelly S, Johnson M, Wajed S, Dhar A, Sawyer E, Roylance R, Onstad L, Gammon MD, Corley DA, Shaheen NJ, Bird NC, Hardie LJ, Reid BJ, Ye W, Liu G, Romero Y, Bernstein L, Wu AH, Casson AG, Fitzgerald R, Whiteman DC, Risch HA, Levine DM, Vaughan TL, Verhaar AP, van den Brande J, Toxopeus EL, Spaander MC, Wijnhoven BP, van der Laan LJ, Krishnadath K, Wijmenga C, Trynka G, McManus R, Reynolds JV, O’Sullivan J, MacMathuna P, McGarrigle SA, Kelleher D, Vermeire S, Cleynen I, Bisschops R, Tomlinson I, Jankowski J. Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus. Gastroenterology 2014, 148: 367-378. PMID: 25447851, PMCID: PMC4315134, DOI: 10.1053/j.gastro.2014.10.041.Peer-Reviewed Original ResearchConceptsProtein-coding genesSingle nucleotide polymorphismsTranscription factorsBone morphogenetic protein (BMP) pathwayWide association studyFurther single nucleotide polymorphismsRisk single nucleotide polymorphismsEsophageal developmentCardiac developmentRisk lociAssociation studiesFurther lociProtein pathwayChromosome 6p21GenesNucleotide polymorphismsLociTbx5GDF7Promising variantsPolymorphismBarx1FOXF1KbCRTC1