ECE2016 Eposter Presentations Thyroid (non-cancer) (120 abstracts)
The prevalence of iodothyronine deiodinase genes and their association with neuropsychological status in Korean hypothyroid patients
Jae Hoon Chung 1 , Sun Wook Kim 1 , Hye Jeong Kim 3 , Seo Young Sohn 2 , Young Nam Kim 1 , You-Bin Lee 1 , Hye-In Kim 1 & Seung-Eun Lee 1
1Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; 2Myongji Hospital, Seonam University College of Medicine, Goyang, Republic of Korea; 3Soonchunhyang University Hospital, Soonchunhyang University College of Medicine, Seoul, Republic of Korea.
Background: Three deiodinase genes (DIO) play an important role in thyroid hormone metabolism. Among them, type 2 iodothyronine deiodinase (DIO2) converts T4 to T3 in brain and impaired psychological well-being was reported in minor variants of DIO2. However, the prevalence of three DIOs and their relation to neuropsychological status has not been evaluated in Asian hypothyroid subjects.
Methods: We prospectively enrolled 196 subjects who were taking levothyroxine between Nov. 2012 and May 2015 at Samsung Medical Center. We analyzed 19 single nucleotide polymorphisms (SNPs) in the three deiodinase genes using MassARRAY matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry (Sequenom, San Diego, CA, USA). We assessed the neuropsychological status by the six questionnaires and identified the association between DIO variants and well-being scores.
Results: Thyroid cancer patients (n=60) who underwent total thyroidectomy and patients with chronic autoimmune thyroiditis (n=136) showed similar distributions of DIO variants and questionnaire scores. The prevalence of minor homozygote in four DIO2 SNPs tested was 2% (rs12885300), 4% (rs225011), 14% (rs225014) and 14% (rs225015). Questionnaire scores (HADS-Anxiety, HADS-Depression and Brief Fatigue Inventory) in minor homozygote of DIO2 SNPs were worse than common homozygote and heterozygote, but not significant.
Conclusion: Worse neuropsychological scores seemed to be related to minor variants of DIO2 SNPs in subjects with thyroid disease. This issue should be validated in further larger studies to clarify the relevance between psychological status and DIO variants as well as the improvement of well-being using T3/T4 combination or T4 monotherapy in subjects with minor variants.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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