A genome-wide association study yields five novel thyroid cancer risk loci

Jūlı́us Guðmundsson(deCODE Genetics (Iceland)), Guðmar Þorleifsson(deCODE Genetics (Iceland)), Jon K. Sigurdsson(deCODE Genetics (Iceland)), Lilja Stefánsdóttir(deCODE Genetics (Iceland)), Jón G. Jónasson(Reykjavík University), Sigurjón A. Guðjónsson(deCODE Genetics (Iceland)), Daníel F. Guðbjartsson(deCODE Genetics (Iceland)), Gísli Másson(deCODE Genetics (Iceland)), Hrefna Johannsdottir(deCODE Genetics (Iceland)), Gísli H. Halldórsson(deCODE Genetics (Iceland)), Simon Stacey(deCODE Genetics (Iceland)), Hannes Helgason(deCODE Genetics (Iceland)), Patrick Sulem(deCODE Genetics (Iceland)), Leigha Senter(Cancer Genetics (United States)), Huiling He(The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute), Sandya Liyanarachchi(The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute), Matthew D. Ringel(The Ohio State University), Esperanza Aguillo(Universidad de Zaragoza), Angeles Panadero(Hospital General Universitario de Ciudad Real), E. Prats(Universidad de Zaragoza), Almudena García‐Castaño(Marqués de Valdecilla University Hospital), Ana De Juan(Marqués de Valdecilla University Hospital), Fernando Rivera(Marqués de Valdecilla University Hospital), Li Xu(The University of Texas MD Anderson Cancer Center), Lambertus A. Kiemeney(Radboud University Nijmegen), Guðmundur I. Eyjólfsson(Innovation Center Iceland), Ólöf Sigurðardóttir(Akureyri Hospital), Ísleifur Ólafsson(Reykjavík University), Höskuldur Kristvinsson(Reykjavík University), Romana T. Netea‐Maier(Radboud University Nijmegen), Þorvaldur Jónsson(Reykjavík University), José Mayordomo(University of Colorado Hospital), Theo S. Plantinga(Radboud University Nijmegen), Hannes Hjartarson(Reykjavík University), Jón Hrafnkelsson(Reykjavík University), Erich M. Sturgis(The University of Texas MD Anderson Cancer Center), Unnur Þorsteinsdóttir(deCODE Genetics (Iceland)), Þórunn Rafnar(deCODE Genetics (Iceland)), Albert de la Chapelle(The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute), Kāri Stefánsson(deCODE Genetics (Iceland))
Nature Communications
February 14, 2017
10.1038/ncomms14517
Cited by 155Open Access
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Abstract

Abstract The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 controls from five study groups of European descent. Our results yield five novel loci (all with P combined <3 × 10 −8 ): 1q42.2 (rs12129938 in PCNXL2 ), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC ), 5q22.1 (rs73227498 between NREP and EPB41L4A ), 10q24.33 (rs7902587 near OBFC1 ), and two independently associated variants at 15q22.33 (rs2289261 and rs56062135; both in SMAD3 ). We also confirm recently published association results from a Chinese study of a variant on 5p15.33 (rs2736100 near the TERT gene) and present a stronger association result for a moderately correlated variant (rs10069690; OR=1.20, P=3.2 × 10 −7 ) based on our study of individuals of European ancestry. In combination, these results raise several opportunities for future studies of the pathogenesis of thyroid cancer.

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