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. @*Conclusions@#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.