Skip Navigation
Skip to contents

Epidemiol Health : Epidemiology and Health

OPEN ACCESS
SEARCH
Search

Search

Page Path
HOME > Search
2 "Ji Wan Park"
Filter
Filter
Article category
Keywords
Publication year
Authors
Original Articles
Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations
Ji Wan Park, Geon Kang, Seung-Hak Baek, Young Ho Kim
Epidemiol Health. 2024;46:e2024069.   Published online August 9, 2024
DOI: https://doi.org/10.4178/epih.e2024069
  • 1,791 View
  • 222 Download
AbstractAbstract PDFSupplementary Material
Abstract
OBJECTIVES
This study investigated the associations of <i>PVRL1</i> gene variants with non-syndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations.
METHODS
We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in <i>PVRL1</i> using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios.
RESULTS
TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10<sup>-7</sup>) and European families (p=1.6×10<sup>-10</sup>). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.0073). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10<sup>-8</sup>). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10<sup>-4</sup>). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets.
CONCLUSIONS
Our findings provide robust evidence supporting the associations of <i>PVRL1</i> variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.
Summary
ADIPOQ Gene Variants Associated with Susceptibility to Obesity and Low Serum Adiponectin Levels in Healthy Koreans
Ji Wan Park, Jungyong Park, Sun Ha Jee
Epidemiol Health. 2011;33:e2011003.   Published online April 25, 2011
DOI: https://doi.org/10.4178/epih/e2011003
  • 19,191 View
  • 126 Download
  • 18 Crossref
AbstractAbstract PDF
Abstract
<sec><title>OBJECTIVES</title><p>This study aimed to measure the association between the adiponectin, C1Q and collagen domain-containing (<italic>ADIPOQ</italic>) gene variants and obesity in Koreans.</p></sec><sec><title>METHODS</title><p>Three single nucleotide polymorphisms located in the <italic>ADIPOQ</italic> gene were genotyped in a population-based cross-sectional study of 986 healthy Koreans. Three different case-control groups (i.e. G1, G2, and G3) were defined according to body mass index (BMI) and serum adiponectin levels. Allelic and genotypic associations of this gene with obesity were measured using multivariate logistic regression analyses in each group.</p></sec><sec><title>RESULTS</title><p>The G allele of -11377C>G, a polymorphism located in the promoter region of the <italic>ADIPOQ</italic> gene (odds ratio (OR), 1.48; 95% confidence interval, 1.13-1.94) and most haplotypes including this allele significantly increased the risk for obesity. However, the OR decreased from 3.98 (G1 group) to 2.90 (G2 group) and 2.30 (G3 group) when a less strict definition of obesity was used. Most haplotypes, including this allele, significantly increased the risk of obesity. The statistical evidence from the GG genotype of -11377C>G (OR, 3.98) and the GT/GT diplotype composed of -11377G>C and +45T>G (OR, 5.20) confirmed the contribution of the G allele toward a predisposition for obesity.</p></sec><sec><title>CONCLUSION</title><p>These results suggest the contribution of the <italic>ADIPOQ</italic> gene toward susceptibility to obesity in healthy Koreans. The high-risk genotypes and haplotypes identified here may provide more information for identifying individuals who are at risk of obesity.</p></sec>
Summary

Citations

Citations to this article as recorded by  
  • Association study between adiponectin gene variants, serum levels and the risk of type 2 diabetes in Tunisian women: Insights from BMI stratification
    Sameh Sarray, Intissar Ezzidi, Saif Moussa, Hassen Ben Abdennebi, Nabil Mtiraoui
    Cytokine.2024; 181: 156695.     CrossRef
  • Risk variants of obesity associated genes demonstrate BMI raising effect in a large cohort
    Muhammad Saqlain, Madiha Khalid, Muhammad Fiaz, Sadia Saeed, Asad Mehmood Raja, Muhammad Mobeen Zafar, Tahzeeb Fatima, João Bosco Pesquero, Cristina Maglio, Hadi Valadi, Muhammad Nawaz, Ghazala Kaukab Raja, Nidaa Ababneh
    PLOS ONE.2022; 17(9): e0274904.     CrossRef
  • Association of the ADIPOQ-AS LncRNA polymorphism rs2241766 with obesity: A Meta-analysis
    M.N. Ammar, L. Lipovich, R.M. Ali, M.A. Amelina, T.P. Shkurat
    Human Gene.2022; 34: 201114.     CrossRef
  • Common Variants in Lipid Metabolism–Related Genes Associate with Fat Mass Changes in Response to Dietary Monounsaturated Fatty Acids in Adults with Abdominal Obesity
    Shatha S Hammad, Peter Eck, Jyoti Sihag, Xiang Chen, Philip W Connelly, Benoît Lamarche, Patrick Couture, Valérie Guay, Julie Maltais-Giguère, Sheila G West, Penny M Kris-Etherton, Kate J Bowen, David J A Jenkins, Carla G Taylor, Danielle Perera, Angela W
    The Journal of Nutrition.2019; 149(10): 1749.     CrossRef
  • Associations between polymorphisms of the ADIPOQ gene and hypertension risk: a systematic and meta-analysis
    Weina Fan, Xiaowei Qu, Jing Li, Xingning Wang, Yanping Bai, Qingmei Cao, Liqun Ma, Xiaoyao Zhou, Wei Zhu, Wei Liu, Qiang Ma
    Scientific Reports.2017;[Epub]     CrossRef
  • An Updated Systematic Review and Meta-analysis of Association Between Adiponectin Gene Polymorphisms and Coronary Artery Disease
    Haifeng Hou, Siqi Ge, Linlin Zhao, Chenglin Wang, Wei Wang, Xuezhen Zhao, Zheng Sun
    OMICS: A Journal of Integrative Biology.2017; 21(6): 340.     CrossRef
  • Change in Weight and Body Mass Index Associated With All-Cause Mortality in Korea: A Nationwide Longitudinal Study
    Yang-Hyun Kim, Seon Mee Kim, Kyung-do Han, Jang-Won Son, Seong-Su Lee, Sang Woo Oh, Won-Young Lee, Soon Jib Yoo
    The Journal of Clinical Endocrinology & Metabolism.2017; 102(11): 4041.     CrossRef
  • A Validation Study of Adiponectin rs266729 Gene Variant with Type 2 Diabetes, Obesity, and Metabolic Phenotypes in a Taiwanese Population
    Tun-Jen Hsiao, Eugene Lin
    Biochemical Genetics.2016; 54(6): 830.     CrossRef
  • ADIPOQ and IL6 variants are associated with a pro-inflammatory status in obeses with cardiometabolic dysfunction
    Raquel de Oliveira, Tamiris Invencioni Moraes, Alvaro Cerda, Mario Hiroyuki Hirata, Cristina Moreno Fajardo, Marcela Correia Sousa, Egidio Lima Dorea, Márcia Martins Silveira Bernik, Rosario Dominguez Crespo Hirata
    Diabetology & Metabolic Syndrome.2015;[Epub]     CrossRef
  • Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype
    Moushira Zaki, Shams Kholoussi, Somaia Ismail, Haiam Abdel Raouf, Iman Helwa, Naglaa Hassan, Eman Youness, Nadia A. Mohamed, Sanaa Kamal, Walaa Yousef, Mohamed Shaker, Wafaa Ezzat, Yasser A. Elhosary, Omnia M. Saleh, Mona El Gammal, HalaT. El-Bassyouni, S
    Egyptian Journal of Medical Human Genetics.2015; 16(4): 367.     CrossRef
  • Gender-specific associations between ADIPOQ gene polymorphisms and adiponectin levels and obesity in the Jackson Heart Study cohort
    Pia Riestra, Samson Y. Gebreab, Ruihua Xu, Rumana J. Khan, Aurelian Bidulescu, Adolfo Correa, Fasil Tekola-Ayele, Sharon K. Davis
    BMC Medical Genetics.2015;[Epub]     CrossRef
  • Association of ADIPOQ polymorphisms with obesity risk: A meta-analysis
    Jie-fu Lu, You Zhou, Gui-hua Huang, Hai-xing Jiang, Bang-li Hu, Shan-yu Qin
    Human Immunology.2014; 75(10): 1062.     CrossRef
  • Polymorphisms of the adiponectin gene in gestational hypertension and pre-eclampsia
    J S R Machado, A C T Palei, L M Amaral, A C Bueno, S R Antonini, G Duarte, J E Tanus-Santos, V C Sandrim, R C Cavalli
    Journal of Human Hypertension.2014; 28(2): 128.     CrossRef
  • Effect of the ADIPOQ Gene -11391G/A Polymorphism Is Modulated by Lifestyle Factors in Mexican Subjects
    Maritza Roxana Garcia-Garcia, María Antonieta Morales-Lanuza, Wendy Yareny Campos-Perez, Bertha Ruiz-Madrigal, Monserrat Maldonado-Gonzalez, Barbara Vizmanos, Ivan Hernandez-Cañaveral, Irinea Yañez-Sanchez, Sonia Roman, Arturo Panduro, Erika Martinez-Lope
    Lifestyle Genomics.2014; 7(4-6): 212.     CrossRef
  • Adiponectin gene polymorphisms may not be associated with idiopathic premature ovarian failure
    Yuqin Ye, Danhua Pu, Jiayin Liu, Fanghong Li, Yugui Cui, Jie Wu
    Gene.2013; 518(2): 262.     CrossRef
  • Adiponectin Level and Gene Variability Are Obesity and Metabolic Syndrome Markers in a Young Population
    Ivana Karmelić, Jasna Lovrić, Tamara Božina, Hana Ljubić, Željka Vogrinc, Nada Božina, Jadranka Sertić
    Archives of Medical Research.2012; 43(2): 145.     CrossRef
  • Single-nucleotide polymorphisms and haplotypes in the adiponectin gene contribute to the genetic risk for type 2 diabetes in Tunisian Arabs
    Nabil Mtiraoui, Intissar Ezzidi, Amira Turki, Arbi Chaieb, Touhami Mahjoub, Wassim Y. Almawi
    Diabetes Research and Clinical Practice.2012; 97(2): 290.     CrossRef
  • Associations of adiponectin gene polymorphisms with polycystic ovary syndrome: a meta-analysis
    Hongxia Jia, Lili Yu, Xuxiao Guo, Wei Gao, Zhaoshun Jiang
    Endocrine.2012; 42(2): 299.     CrossRef

Epidemiol Health : Epidemiology and Health
TOP