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Author (up) Rawal, R.; Teumer, A.; Volzke, H.; Wallaschofski, H.; Ittermann, T.; Asvold, B.O.; Bjoro, T.; Greiser, K.H.; Tiller, D.; Werdan, K.; Meyer zu Schwabedissen, H.E.; Doering, A.; Illig, T.; Gieger, C.; Meisinger, C.; Homuth, G. url  doi
  Title Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function Type Journal Article
  Year 2012 Publication Human Molecular Genetics Abbreviated Journal Hum Mol Genet  
  Volume 21 Issue 14 Pages 3275-3282  
  Keywords 3',5'-Cyclic-AMP Phosphodiesterases/genetics; Adult; Aged; Aged, 80 and over; Cohort Studies; European Continental Ancestry Group/*genetics; Female; Genetic Loci; *Genetics, Population; *Genome-Wide Association Study; Germany; Humans; Male; Middle Aged; Polymorphism, Single Nucleotide; Receptors, Mineralocorticoid/genetics; Thyroid Gland/*secretion; Thyroid Hormones/blood; Thyrotropin/blood/*secretion  
  Abstract Thyroid hormones play key roles in cellular growth, development and metabolism. Although there is a strong genetic influence on thyroid hormone levels, the genes involved are widely unknown. The levels of circulating thyroid hormones are tightly regulated by thyrotropin (TSH), which also represents the most important diagnostic marker for thyroid function. Therefore, in order to identify genetic loci associated with TSH levels, we performed a discovery meta-analysis of two genome-wide association studies including two cohorts from Germany, KORA (n = 1287) and SHIP (n = 2449), resulting in a total sample size of 3736. Four genetic loci at 5q13.3, 1p36, 16q23 and 4q31 were associated with serum TSH levels. The lead single-nucleotide polymorphisms of these four loci were located within PDE8B encoding phosphodiesterase 8B, upstream of CAPZB that encodes the beta-subunit of the barbed-end F-actin-binding protein, in a former 'gene desert' that was recently demonstrated to encode a functional gene (LOC440389) associated with thyroid volume, and upstream of NR3C2 encoding the mineralocorticoid receptor. The latter association for the first time suggests the modulation of thyroid function by mineral corticoids. All four loci were replicated in three additional cohorts: the HUNT study from Norway (n = 1487) and the two German studies CARLA (CARLA, n = 1357) and SHIP-TREND (n = 883). Together, these four quantitative trait loci accounted for approximately 3.3% of the variance in TSH serum levels. These results contribute to our understanding of genetic factors and physiological mechanisms mediating thyroid function.  
  Address Institute of Genetic Epidemiology, Helmholtz Zentrum Mu nchen, 85764 Neuherberg, Germany. rajesh.rawal@helmholtz-muenchen.de  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0964-6906 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22494929 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1570  
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