-
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
-
-
 Abstract
 PDF Supplementary 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
-
-
19,571
View
-
126
Download
-
18
Crossref
-
Abstract
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
|
KSE
