Genetic epidemiology

Bilateral vestibular schwannomas in older patients: NF2 or chance?
D G Evans, S Freeman, C Gokhale, A Wallace, S K Lloyd, P Axon, C L Ward, S Rutherford, A King, S M Huson, R T Ramsden

Journal of Medical Genetics Jun 2015, 52 (6) 422-424; DOI: 10.1136/jmedgenet-2014-102973
An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis
Luca Pagliardini, Davide Gentilini, Paola Vigano’, Paola Panina-Bordignon, Mauro Busacca, Massimo Candiani, Anna Maria Di Blasio

Journal of Medical Genetics Jan 2013, 50 (1) 43-46; DOI: 10.1136/jmedgenet-2012-101257
Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm
Hou-Feng Zheng, Emma L Duncan, Laura M Yerges-Armstrong, Joel Eriksson, Ulrica Bergström, Paul J Leo, William D Leslie, David Goltzman, John Blangero, David A Hanley, Melanie A Carless, Elizabeth A Streeten, Mattias Lorentzon, Matthew A Brown, Tim D Spector, Ulrika Pettersson-Kymmer, Claes Ohlsson, Braxton D Mitchell, J Brent Richards

Journal of Medical Genetics Jul 2013, 50 (7) 473-478; DOI: 10.1136/jmedgenet-2012-101287
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
Hildur Helgadottir, Veronica Höiom, Göran Jönsson, Rainer Tuominen, Christian Ingvar, Åke Borg, Håkan Olsson, Johan Hansson

Journal of Medical Genetics Aug 2014, 51 (8) 545-552; DOI: 10.1136/jmedgenet-2014-102320
Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies
D Gareth Evans, Elaine Harkness, Fiona Lalloo, Anthony Howell

Journal of Medical Genetics Sep 2014, 51 (9) 573-580; DOI: 10.1136/jmedgenet-2014-102336
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study
Tessel E Galesloot, Anneke J Geurts-Moespot, Martin den Heijer, Fred C G J Sweep, Robert E Fleming, Lambertus A L M Kiemeney, Sita H Vermeulen, Dorine W Swinkels

Journal of Medical Genetics Sep 2013, 50 (9) 593-598; DOI: 10.1136/jmedgenet-2013-101673
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance
Yolande F M Ramos, Sarah Metrustry, Nigel Arden, Anne C Bay-Jensen, Marian Beekman, Anton J M de Craen, L Adrienne Cupples, Tõnu Esko, Evangelos Evangelou, David T Felson, Deborah J Hart, John P A Ioannidis, Morten Karsdal, Margreet Kloppenburg, Floris Lafeber, Andres Metspalu, Kalliope Panoutsopoulou, P Eline Slagboom, Tim D Spector, Erwin W E van Spil, Andre G Uitterlinden, Yanyan Zhu, arcOGEN consortium, TreatOA collaborators, Ana M Valdes, Joyce B J van Meurs, Ingrid Meulenbelt

Journal of Medical Genetics Sep 2014, 51 (9) 596-604; DOI: 10.1136/jmedgenet-2014-102478
Rare variants in XRCC2 as breast cancer susceptibility alleles
Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, Javier Benitez, Christi J van Asperen, Peter Devilee

Journal of Medical Genetics Oct 2012, 49 (10) 618-620; DOI: 10.1136/jmedgenet-2012-101191
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size
Jingmei Li, Jia Nee Foo, Nils Schoof, Jajini S Varghese, Pablo Fernandez-Navarro, Gretchen L Gierach, Swee Tian Quek, Mikael Hartman, Silje Nord, Vessela N Kristensen, Marina Pollán, Jonine D Figueroa, Deborah J Thompson, Yi Li, Chiea Chuen Khor, Keith Humphreys, Jianjun Liu, Kamila Czene, Per Hall

Journal of Medical Genetics Oct 2013, 50 (10) 666-673; DOI: 10.1136/jmedgenet-2013-101708
Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin
Paula Tejera, Nuala J Meyer, Feng Chen, Rui Feng, Yang Zhao, D Shane O'Mahony, Lin Li, Chau-Chyun Sheu, Rihong Zhai, Zhaoxi Wang, Li Su, Ed Bajwa, Amy M Ahasic, Peter F Clardy, Michelle N Gong, Angela J Frank, Paul N Lanken, B Taylor Thompson, Jason D Christie, Mark M Wurfel, Grant E O'Keefe, David C Christiani

Journal of Medical Genetics Nov 2012, 49 (11) 671-680; DOI: 10.1136/jmedgenet-2012-100972

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