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Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations
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Ji Wan Park, Geon Kang, Seung-Hak Baek, Young Ho Kim
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Epidemiol Health. 2024;46:e2024069. Published online August 9, 2024
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DOI: https://doi.org/10.4178/epih.e2024069
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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.
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Summary
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ADIPOQ Gene Variants Associated with Susceptibility to Obesity and Low Serum Adiponectin Levels in Healthy Koreans
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Ji Wan Park, Jungyong Park, Sun Ha Jee
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Epidemiol Health. 2011;33:e2011003. Published online April 25, 2011
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DOI: https://doi.org/10.4178/epih/e2011003
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Abstract
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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>
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Summary
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Citations
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