Discovery of common variants associated with low TSH levels and thyroid cancer risk

Autor: Simon N. Stacey, Hoskuldur Kristvinsson, Unnur S. Bjornsdottir, Jeffrey R. Gulcher, Hjordis Bjarnason, Unnur Thorsteinsdottir, Theo S. Plantinga, Gisli Masson, Isleifur Olafsson, Thorunn Rafnar, Jose I. Mayordomo, Jon Hrafnkelsson, Laufey Tryggvadottir, Hilma Holm, W. G. Li, Matthew D. Ringel, Almudena García-Castaño, Lambertus A. Kiemeney, Daniel F. Gudbjartsson, Jon G. Jonasson, Angeles Panadero, Thorvaldur Jonsson, Albert de la Chapelle, Enrique Prats, Marieke de Visser, Kristleifur Kristjansson, Richard T. Kloos, Gudmundur I. Eyjolfsson, Aslaug Jonasdottir, Augustine Kong, Julius Gudmundsson, Asgeir Sigurdsson, G. Bragi Walters, Kari Stefansson, Ana de Juan, Fernando Rivera, Esperanza Aguillo, Huiling He, Rebecca Nagy, Gudmar Thorleifsson, Hafdis T. Helgadottir, Olafur T. Magnusson, Romana T. Netea-Maier, Hannes Hjartarson, Martin den Heijer, Patrick Sulem, Hrefna Johannsdottir
Přispěvatelé: Internal medicine, EMGO - Musculoskeletal health
Rok vydání: 2012
Předmět:
medicine.medical_specialty
Genotype
Neuregulin-1
Iceland
Thyrotropin
Single-nucleotide polymorphism
Genome-wide association study
Aetiology
screening and detection [ONCOL 5]

Polymorphism
Single Nucleotide

Article
Invasive mycoses and compromised host [N4i 2]
Thyroid-stimulating hormone
Polymorphism (computer science)
Internal medicine
Genetics
medicine
Humans
Hormonal regulation Translational research [IGMD 6]
Genetic Predisposition to Disease
Thyroid Neoplasms
Neuregulin 1
Thyroid cancer
Health aging / healthy living Cardiovascular diseases [IGMD 5]
Molecular epidemiology Aetiology
screening and detection [NCEBP 1]

Chromosomes
Human
Pair 14

biology
Thyroid
Genetic Variation
medicine.disease
Endocrinology
medicine.anatomical_structure
Genetic Loci
Chromosomes
Human
Pair 2

biology.protein
Chromosomes
Human
Pair 8

Genome-Wide Association Study
Zdroj: Gudmundsson, J, Sulem, P, Gudbjartsson, D F, Jonasson, J G, Masson, G, He, H L, Jonasdottir, A, Sigurdsson, A, Stacey, S N, Johannsdottir, H, Helgadottir, H T, Li, W, Nagy, R, Ringel, M D, Kloos, R T, de Visser, M C H, Plantinga, T S, den Heijer, M, Aguillo, E, Panadero, A, Prats, E, Garcia-Castano, A, De Juan, A, Rivera, F, Walters, G B, Bjarnason, H, Tryggvadottir, L, Eyjolfsson, G I, Bjornsdottir, U S, Holm, H, Olafsson, I, Kristjansson, K, Kristvinsson, H, Magnusson, O T, Thorleifsson, G, Gulcher, J R, Kong, A, Kiemeney, L A L M, Jonsson, T, Hjartarson, H, Mayordomo, J I, Netea-Maier, R T, de la Chapelle, A, Hrafnkelsson, J, Thorsteinsdottir, U, Rafnar, T & Stefansson, K 2012, ' Discovery of common variants associated with low TSH levels and thyroid cancer risk ', Nature Genetics, vol. 44, no. 3, pp. 319-322 . https://doi.org/10.1038/ng.1046
Nature Genetics, 44, 3, pp. 319-22
Nature Genetics, 44(3), 319-322. Nature Publishing Group
Nature Genetics, 44, 319-22
ISSN: 1061-4036
DOI: 10.1038/ng.1046
Popis: Contains fulltext : 110933.pdf (Publisher’s version ) (Closed access) To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 x 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer. The remaining 21 SNPs were genotyped in 561 Icelandic individuals with thyroid cancer (cases) and up to 40,013 controls. Variants suggestively associated with thyroid cancer (P < 0.05) were genotyped in an additional 595 non-Icelandic cases and 2,604 controls. After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; P(combined) = 1.3 x 10(-9)), rs2439302 on 8p12 (OR = 1.36; P(combined) = 2.0 x 10(-9)) and rs116909374 on 14q13.3 (OR = 2.09; P(combined) = 4.6 x 10(-11)), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. A strong association (P = 9.1 x 10(-91)) was observed between rs2439302 on 8p12 and expression of NRG1, which encodes the signaling protein neuregulin 1, in blood. 01 maart 2012
Databáze: OpenAIRE