Ontology highlight
ABSTRACT: Background/aims
Recent evidence has identified the significance of type 2 iodothyronine deiodinase (DIO2) in various diseases. However, the role of DIO2 polymorphism in metabolic parameters in patients with hypothyroidism is not fully understood.Methods
We assessed the polymorphism of the DIO2 gene and various clinical parameters in 118 patients who were diagnosed with hypothyroidism from the Ansan-Anseong cohort of the Korean Genome and Epidemiology Study. Furthermore, we systematically analyzed Genotype-Tissue Expression (GTEx) data.Results
A total of 118 participants with hypothyroidism were recruited; 32 (27.1%) were homozygous for the Thr allele, 86 (73.9%) were homozygous for the Ala allele or heterozygous. Patients with hypothyroidism with DIO2 polymorphism without hypertension at baseline had higher incidence of hypertension compared to patients without DIO2 polymorphism. Analysis of the GTEx database revealed that elevation of DIO2 expression is associated with enhancement of genes involved in blood vessel regulation and angiogenesis.Conclusion
Commonly inherited variation in the DIO2 gene is associated with high blood pressure and prevalence of hypertension in patients with hypothyroidism. Our results suggest that genetic variation in the hypothalamic-pituitary-thyroid pathway in influencing susceptibility to hypertension.
SUBMITTER: Kang YM
PROVIDER: S-EPMC9993109 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Kang Young Mi YM Koo Bon Seok BS Yi Hyon-Seung HS Kim Jung Tae JT Park Boyoung B Lee Ju Hee JH Shong Minho M Kang Yea Eun YE
The Korean journal of internal medicine 20230117 2
<h4>Background/aims</h4>Recent evidence has identified the significance of type 2 iodothyronine deiodinase (DIO2) in various diseases. However, the role of DIO2 polymorphism in metabolic parameters in patients with hypothyroidism is not fully understood.<h4>Methods</h4>We assessed the polymorphism of the DIO2 gene and various clinical parameters in 118 patients who were diagnosed with hypothyroidism from the Ansan-Anseong cohort of the Korean Genome and Epidemiology Study. Furthermore, we system ...[more]