학술논문

Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease
Document Type
article
Author
Medici, MarcoPorcu, EleonoraPistis, GiorgioTeumer, AlexanderBrown, Suzanne JJensen, Richard ARawal, RajeshRoef, Greet LPlantinga, Theo SVermeulen, Sita HLahti, JariSimmonds, Matthew JHusemoen, Lise Lotte NFreathy, Rachel MShields, Beverley MPietzner, DianaNagy, RebeccaBroer, LindaChaker, LayalKorevaar, Tim IMPlia, Maria GraziaSala, CinziaVölker, UweRichards, J BrentSweep, Fred CGieger, ChristianCorre, TanguyKajantie, EeroThuesen, BetinaTaes, Youri EVisser, W EdwardHattersley, Andrew TKratzsch, JürgenHamilton, AlexanderLi, WeiHomuth, GeorgLobina, MoniaMariotti, StefanoSoranzo, NicoleCocca, MassimilianoNauck, MatthiasSpielhagen, ChristinRoss, AlecArnold, Alicevan de Bunt, MartijnLiyanarachchi, SandyaHeier, MargitGrabe, Hans JörgenMasciullo, CorradoGalesloot, Tessel ELim, Ee MReischl, EvaLeedman, Peter JLai, SandraDelitala, AlessandroBremner, Alexandra PPhilips, David IWBeilby, John PMulas, AntonellaVocale, MatteoAbecasis, GoncaloForsen, TomJames, AlanWiden, ElisabethHui, JennieProkisch, HolgerRietzschel, Ernst EPalotie, AarnoFeddema, PeterFletcher, Stephen JSchramm, KatharinaRotter, Jerome IKluttig, AlexanderRadke, DörteTraglia, MichelaSurdulescu, Gabriela LHe, HuilingFranklyn, Jayne ATiller, DanielVaidya, Bijayde Meyer, TimJørgensen, TorbenEriksson, Johan GO'Leary, Peter CWichmann, EricHermus, Ad RPsaty, Bruce MIttermann, TillHofman, AlbertBosi, EmanueleSchlessinger, DavidWallaschofski, HenriPirastu, NicolaAulchenko, Yurii Sde la Chapelle, AlbertNetea-Maier, Romana TGough, Stephen CLSchwabedissen, Henriette Meyer zuFrayling, Timothy MKaufman, Jean-Marc
Source
PLOS Genetics. 10(2)
Subject
Biological Sciences
Genetics
Prevention
Clinical Research
Autoimmune Disease
2.1 Biological and endogenous factors
Aetiology
4.1 Discovery and preclinical testing of markers and technologies
Detection
screening and diagnosis
Metabolic and endocrine
Autoantibodies
Genetic Loci
Genome-Wide Association Study
Graves Disease
Hashimoto Disease
Humans
Iodide Peroxidase
Risk Factors
Thyroiditis
Autoimmune
Thyrotropin
Developmental Biology
Language
Abstract
Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population. Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of autoimmune hypothyroidism (Hashimoto's thyroiditis), as well as autoimmune hyperthyroidism (Graves' disease). As the possible causative genes of TPOAbs and AITD remain largely unknown, we performed GWAS meta-analyses in 18,297 individuals for TPOAb-positivity (1769 TPOAb-positives and 16,528 TPOAb-negatives) and in 12,353 individuals for TPOAb serum levels, with replication in 8,990 individuals. Significant associations (P