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ea0092op-05-04 | Oral Session 5: Young Investigators / Basic | ETA2023

Multi-Trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

Sterenborg Rosalie , Steinbrenner Inga , Li Yong , Bujnis Melissa , Naito Tatsuhiko , Marouli Eirini , Consortium Thyroidomics , Kottgen Anna , Smit Johannes W.A. , Peeters Robin , Teumer Alexander , Medici Marco

Introduction: In the last decade, it has become clear that not only overt but also subclinical hypo- and hyperthyroidism are associated with several adverse clinical outcomes, including atrial fibrillation, coronary heart disease, stroke and mortality. More recently, various studies have suggested that even small differences in thyroid function within the reference range are associated with clinical consequences. Genetic factors are responsible for up to 58-71% of the variatio...

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ea0020p552 | Neuroendocrinology, Pituitary and Behaviour | ECE2009

The D3 GH receptor polymorphism is associated with osteoarthritis, especially of the hip, in patients with long-term cured acromegaly

Wassenaar Moniek JE , Biermasz Nienke R , van der Klaauw Agatha A , Smit Johannes WA , Pereira Alberto M , Roelfsema Ferdinand , van der Straaten Tahar , Kroon Herman M , Kloppenburg Margreet , Guchelaar HJ , Romijn Johannes A

Objective: To evaluate the impact of the genomic deletion of exon 3 in the growth hormone receptor (d3GHR) on co-morbidities of acromegaly in a well-characterized cohort of patients with long-term remission of acromegaly.Design: Cross sectional study.Methods: The presence of the d3GHR polymorphism was assessed in 86 acromegalic patients and related to clinical outcome, i.e. anthropometric parameters, osteoarthritis, and the metabol...

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Endocrine Abstracts

Multi-Trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

The D3 GH receptor polymorphism is associated with osteoarthritis, especially of the hip, in patients with long-term cured acromegaly

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