Endocrinology and Metabolism

Ji Won Yoon (Yoon JW)

5 Articles

Calcium & Bone Metabolism
Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study: Ye An Kim, Ji Won Yoon, Young Lee, Hyuk Jin Choi, Jae Won Yun, Eunsin Bae, Seung-Hyun Kwon, So Eun Ahn, Ah-Ra Do, Heejin Jin, Sungho Won, Do Joon Park, Chan Soo Shin, Je Hyun Seo; Endocrinol Metab. 2021;36(6):1189-1200. Published online December 2, 2021; DOI: https://doi.org/10.3803/EnM.2021.1241

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Abstract PDF Supplementary Material PubReader ePub

Background
Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS).
Methods
We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed.
Results
rs12803256, in the actin epsilon 1, pseudogene (ACTE1P) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (PDE3B) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (NADSYN1) and 7-dehydrocholesterol reductase (DHCR7), showed significantly different expression according to alleles.
Conclusion
The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, PDE3B, NADSYN1, and ACTE1P genes. The biological mechanism of a non-coding SNP (rs12803256) for DHCR7/NADSYN1 on vitamin D concentrations is unclear, warranting further investigations.

Citations

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Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization
Caroline De Souza Silverio , Carolina Bonilla
Biomédica.2024; 44(1): 45. CrossRef
Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women
Diana I. Aparicio-Bautista, Rogelio F. Jiménez-Ortega, Adriana Becerra-Cervera, Arnoldo Aquino-Gálvez, Valeria Ponce de León-Suárez, Leonora Casas-Ávila, Jorge Salmerón, Alberto Hidalgo-Bravo, Berenice Rivera-Paredez, Rafael Velázquez-Cruz
Frontiers in Endocrinology.2024;[Epub] CrossRef
Implications of vitamin D deficiency in systemic inflammation and cardiovascular health
Sanjay Kumar Dey, Shashank Kumar, Diksha Rani, Shashank Kumar Maurya, Pratibha Banerjee, Madhur Verma, Sabyasachi Senapati
Critical Reviews in Food Science and Nutrition.2023; : 1. CrossRef
Association between Vitamin D Deficiency and Clinical Parameters in Men and Women Aged 50 Years or Older: A Cross-Sectional Cohort Study
Ji Hyun Lee, Ye An Kim, Young Sik Kim, Young Lee, Je Hyun Seo
Nutrients.2023; 15(13): 3043. CrossRef
Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait
Abdur Rahman, Mohamed Abu-Farha, Arshad Channanath, Maha M. Hammad, Emil Anoop, Betty Chandy, Motasem Melhem, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubaker
Frontiers in Endocrinology.2023;[Epub] CrossRef
Recent Information on Vitamin D Deficiency in an Adult Korean Population Visiting Local Clinics and Hospitals
Rihwa Choi, Sung-Eun Cho, Sang Gon Lee, Eun Hee Lee
Nutrients.2022; 14(9): 1978. CrossRef
The Multiple Effects of Vitamin D against Chronic Diseases: From Reduction of Lipid Peroxidation to Updated Evidence from Clinical Studies
Massimiliano Berretta, Vincenzo Quagliariello, Alessia Bignucolo, Sergio Facchini, Nicola Maurea, Raffaele Di Francia, Francesco Fiorica, Saman Sharifi, Silvia Bressan, Sara N. Richter, Valentina Camozzi, Luca Rinaldi, Carla Scaroni, Monica Montopoli
Antioxidants.2022; 11(6): 1090. CrossRef
A Genome-Wide Association Study of Genetic Variants of Apolipoprotein A1 Levels and Their Association with Vitamin D in Korean Cohorts
Young Lee, Ji Won Yoon, Ye An Kim, Hyuk Jin Choi, Byung Woo Yoon, Je Hyun Seo
Genes.2022; 13(9): 1553. CrossRef
Genetic Determinants of 25-Hydroxyvitamin D Concentrations and Their Relevance to Public Health
Elina Hyppönen, Karani S. Vimaleswaran, Ang Zhou
Nutrients.2022; 14(20): 4408. CrossRef
On the Centennial of Vitamin D—Vitamin D, Inflammation, and Autoimmune Thyroiditis: A Web of Links and Implications
Leonidas H. Duntas, Krystallenia I. Alexandraki
Nutrients.2022; 14(23): 5032. CrossRef
The genetic and epigenetic contributions to the development of nutritional rickets
Innocent Ogunmwonyi, Adewale Adebajo, Jeremy Mark Wilkinson
Frontiers in Endocrinology.2022;[Epub] CrossRef

Clinical Study
Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults: Sung Hye Kong, Ji Won Yoon, Jung Hee Kim, JooYong Park, Jiyeob Choi, Ji Hyun Lee, A Ram Hong, Nam H. Cho, Chan Soo Shin; Endocrinol Metab. 2020;35(4):801-810. Published online November 24, 2020; DOI: https://doi.org/10.3803/EnM.2020.735

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Abstract PDF Supplementary Material PubReader ePub: Background
As the genetic variants of trabecular bone microarchitecture are not well-understood, we performed a genome-wide association study to identify genetic determinants of bone microarchitecture analyzed by trabecular bone score (TBS).
Methods
TBS-associated genes were discovered in the Ansung cohort (discovery cohort), a community-based rural cohort in Korea, and then validated in the Gene-Environment Interaction and Phenotype (GENIE) cohort (validation cohort), consisting of subjects who underwent health check-up programs. In the discovery cohort, 2,451 participants were investigated for 1.42 million genotyped and imputed markers.
Results
In the validation cohort, identified as significant variants were evaluated in 2,733 participants. An intronic variant in iroquois homeobox 3 (IRX3), rs1815994, was significantly associated with TBS in men (P=3.74E-05 in the discovery cohort, P=0.027 in the validation cohort). Another intronic variant in mitogen-activated protein kinase kinase 5 (MAP2K5), rs11630730, was significantly associated with TBS in women (P=3.05E-09 in the discovery cohort, P=0.041 in the validation cohort). Men with the rs1815994 variant and women with the rs11630730 variant had lower TBS and lumbar spine bone mineral density. The detrimental effects of the rs1815994 variant in men and rs11630730 variant in women were also identified in association analysis (β=–0.0281, β=–0.0465, respectively).
Conclusion
In this study, the rs1815994 near IRX3 in men and rs11630730 near MAP2K5 in women were associated with deterioration of the bone microarchitecture. It is the first study to determine the association of genetic variants with TBS. Further studies are needed to confirm our findings and identify additional variants contributing to the trabecular bone microarchitecture.

Effect of Thyroid Hormone to the Expression of Bile Salt Export Pump.: Hwa Young Ahn, Kwan Jae Lee, Soon Hui Kim, Eun Ky Kim, Ah Reum Kang, Jung Ah Lim, Ji Won Yoon, Kyung Won Kim, Do Joon Park, Bo Youn Cho, Young Joo Park; Endocrinol Metab. 2011;26(3):232-238. Published online September 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.3.232

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Abstract PDF

BACKGROUND
Bile acids were important for the regulation of cholesterol homeostasis. Thyroid hormone increased the expression of CYP7A1 (cholesterol 7alpha-hydroxylase), catalyzing the first step in the biosynthesis of bile acids. However, the effect of thyroid hormone on bile acid export has not been previously assessed. The principal objective of this study is to evaluate the effects of thyroid hormone on the bile salt export pump (BSEP). METHODS: Thyroid hormone, T3 (1 mg/g) was administered to male mice via intraperitoneal injection. After 6 hours and 5 days of T3 treatment, we measured serum total and LDL cholesterol and hepatobiliary bile acid concentrations. We assessed the changes associated with bile acid synthesis and transport. In order to evaluate the direct effect of thyroid hormone, we assessed the changes in the levels of BSEP protein after T3 administration in human hepatoma cells. RESULTS: Serum total and LDL cholesterol were reduced and hepatobiliary bile acid concentrations were increased following T3 treatment. Expressions of Cyp7a1 and BSEP mRNA were increased following T3 treatment. The levels of the BSEP protein in the mouse liver as well as in the human hepatoma cells were increased after T3 treatment. CONCLUSION: Thyroid hormone can regulate LDL cholesterol metabolism. It increases bile acid synthesis and the excretion of bile acids via increased BSEP expression.

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Hypothyroidism Increases Cholesterol Gallstone Prevalence in Mice by Elevated Hydrophobicity of Primary Bile Acids
Irina Kube, Luca Bartolomeo Tardio, Ute Hofmann, Ahmed Ghallab, Jan G. Hengstler, Dagmar Führer, Denise Zwanziger
Thyroid.2021; 31(6): 973. CrossRef
Thyroid Dysfunction and Cholesterol Gallstone Disease
Irina Kube, Denise Zwanziger
Experimental and Clinical Endocrinology & Diabetes.2020; 128(06/07): 455. CrossRef
Thyroid hormone receptor β1 stimulates ABCB4 to increase biliary phosphatidylcholine excretion in mice
Julien Gautherot, Thierry Claudel, Frans Cuperus, Claudia Daniela Fuchs, Thomas Falguières, Michael Trauner
Journal of Lipid Research.2018; 59(9): 1610. CrossRef

Discrepancy between the Growth Hormone and Insulin-like Growth Factor-I Concentrations in Patients with Acromegaly.: Ji Won Yoon, Mi Yeon Kang, Hwa Young Ahn, Jee Hyun An, Sang Wan Kim, Chan Soo Shin, Kyong Soo Park, Hak Chul Jang, Bo Youn Cho, Hong Kyu Lee, Seong Yeon Kim; J Korean Endocr Soc. 2008;23(6):395-403. Published online December 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.6.395

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Abstract PDF: BACKGROUND
This study was performed to evaluate the frequency and clinical characteristics of patients with active acromegaly and who show discordance of the growth hormone (GH) level and the insulin-like growth factor-I (IGF-I) level. METHODS: We reviewed the medical records of the patients who were diagnosed with acromegaly between 01/01/1995 and 6/30/2007 at Seoul National University Hospital. We selected only the patients whose basal GH and IGF-I levels were available. We investigated the pre- and post-operative clinical characteristics, as well as the blood concentrations of GH and IGF-I. The concordance rate between the two hormones was examined. The patients were considered to have active disease on the basis of their IGF-I levels above the normal range, after adjustment for age and gender, and their mean basal GH value was > or = 2.5 microgram/L. The hormone levels and the clinical parameters were compared between the hormone concordant and discordant groups. RESULTS: We reviewed the preoperative records of 103 acromegalic patients, and these patients met the above-mentioned criteria. 53 postoperative patients who were not cured by operation were monitored without them receiving radiation or medical therapy. Both the basal GH and IGF-I levels were above normal in 103 patients preoperatively, and the discordant rate was 0% (0/103 cases). Postoperatively, the discordant rate between the two hormones was increased to 30.2% (16/53 cases). Age, gender, body mass index and tumor size were insignificantly different between the concordant and discordant groups. However, postoperative residual tumors were less frequently observed in the discordant group (P = 0.006). CONCLUSION: For the patients with acromegaly, unlike the 0% discordance preoperatively, 30.2% of patients showed a discrepancy between their GH and IGF-I levels postoperatively. The patients who had hormonal discrepancy were less likely to have residual tumors after operation. Considering the frequency of this hormonal discrepancy, both hormone levels should be measured to evaluate the disease activity after treatment. Further, oral glucose tolerance testing should be performed and especially for the patients with an increased GH level, but who have a normal IGF-I concentration.

A Case of Adrenocortical Carcinoma showing Variable Cortisol Production during the Clinical Course.: Yun Hyi Ku, Hyung Jin Choi, Jin Taek Kim, Ji Won Yoon, Eun Kyung Lee, Hwa Young Cho, Mi Yeon Kang, Jie Seon Lee, Young Min Cho, Seong Yeon Kim; J Korean Endocr Soc. 2006;21(5):419-423. Published online October 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.5.419

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Abstract PDF: Patients with adrenocortical carcinoma (ACC) present with evidence of excessive adrenal steroid hormone in approximately 60% of cases, in which rapidly progressing Cushing's syndrome with or without virilization is the most frequent presentation. Some patients experience an increase or a decline in cortisol production through the progression of their ACC. We report on an unusual case of a cortisol-producing ACC, and the patient presented with a decline in cortisol production, followed by an increase in cortisol production, through the progression of the tumor. A 65-year-old woman who manifested with facial edema and weight gain was diagnosed with Cushing's syndrome, caused by cortisol producing ACC. The patient was treated with adrenalectomy. However, 8 months later, a metastatic hepatic tumor of recurred ACC was detected. At that time, the hormonal evaluation revealed that the liver mass did not produce any hormones. The patient was treated with metastatectomy. Four months later, a relapsed tumor was detected. Increased cortisol production was observed at that time. We speculate there was a change in the clonal dominance within the ACC and this change might cause such a difference. This is the first case report of ACC that showed variable hormone production during progression.

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