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


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 Pcombined<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.

SUBMITTER: Gudmundsson J 

PROVIDER: S-EPMC5316879 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Gudmundsson Julius J   Thorleifsson Gudmar G   Sigurdsson Jon K JK   Stefansdottir Lilja L   Jonasson Jon G JG   Gudjonsson Sigurjon A SA   Gudbjartsson Daniel F DF   Masson Gisli G   Johannsdottir Hrefna H   Halldorsson Gisli H GH   Stacey Simon N SN   Helgason Hannes H   Sulem Patrick P   Senter Leigha L   He Huiling H   Liyanarachchi Sandya S   Ringel Matthew D MD   Aguillo Esperanza E   Panadero Angeles A   Prats Enrique E   Garcia-Castaño Almudena A   De Juan Ana A   Rivera Fernando F   Xu Li L   Kiemeney Lambertus A LA   Eyjolfsson Gudmundur I GI   Sigurdardottir Olof O   Olafsson Isleifur I   Kristvinsson Hoskuldur H   Netea-Maier Romana T RT   Jonsson Thorvaldur T   Mayordomo Jose I JI   Plantinga Theo S TS   Hjartarson Hannes H   Hrafnkelsson Jon J   Sturgis Erich M EM   Thorsteinsdottir Unnur U   Rafnar Thorunn T   de la Chapelle Albert A   Stefansson Kari K  

Nature communications 20170214


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<sub>combined</sub><3 × 10<sup>-8</sup>): 1q42.2 (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs73227498 between NREP and EPB41L4A), 10q24.33 (rs7  ...[more]

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