Skip Navigation
Skip to contents

Endocrinol Metab : Endocrinology and Metabolism

clarivate
OPEN ACCESS
SEARCH
Search

Author index

Page Path
HOME > BROWSE ARTICLES > Author index
Search
So Eun Ahn 1 Article
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
  • 7,580 View
  • 209 Download
  • 15 Web of Science
  • 13 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   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

Citations to this article as recorded by  
  • 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.2024; 64(28): 10438.     CrossRef
  • 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
  • Micronutrient-Associated Single Nucleotide Polymorphism and Mental Health: A Mendelian Randomization Study
    Jingni Hui, Na Zhang, Meijuan Kang, Yifan Gou, Chen Liu, Ruixue Zhou, Ye Liu, Bingyi Wang, Panxing Shi, Shiqiang Cheng, Xuena Yang, Chuyu Pan, Feng Zhang
    Nutrients.2024; 16(13): 2042.     CrossRef
  • Associations between Disc Hemorrhage and Primary Open-Angle Glaucoma Based on Genome-Wide Association and Mendelian Randomization Analyses
    Je Hyun Seo, Young Lee, Hyuk Jin Choi
    Biomedicines.2024; 12(10): 2253.     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
Close layer

Endocrinol Metab : Endocrinology and Metabolism
TOP