Pathway analysis identified a significant association between cell-cell adherens junctions-related genes and non-syndromic cleft lip/palate in 895 Asian case-parent trios

被引:1
作者
Li, Mengying [1 ,2 ]
Wang, Hong [1 ,3 ]
机构
[1] Peking Univ, Sch Publ Hlth, Dept Biostat, Beijing, Peoples R China
[2] Ningbo Municipal Ctr Dis Control & Prevent, Ningbo, Zhejiang, Peoples R China
[3] Peking Univ, Sch Publ Hlth, Hlth Sci Ctr, Dept Biostat, 38 Xueyuan Rd Haidian, Beijing 100191, Peoples R China
基金
中国国家自然科学基金;
关键词
Adherens junctions; Genetic association studies; Single nucleotide polymorphism; Cleft lip; Cleft palate; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCUS; OROFACIAL CLEFTS; RARE VARIANTS; ORAL CLEFTS; LIP; PALATE; CDH1; CANCER; RISK;
D O I
10.1016/j.archoralbio.2022.105384
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
Objectives: To study the association between the seven cell-cell adherens junctions (AJs)-related genes (CDH1, CTNND1, CTNNA1, ESRP1, ESRP2, PLEKHA5, and PLEKHA7) and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Asian population.& nbsp;Design: The study included 895 NSCL/P case-parent trios of Asian ethnicity drawn from an international consortium established for a genome-wide association study. We performed association analysis by applying the genotypic transmission disequilibrium test for each of the 144 single nucleotide polymorphisms (SNPs), the versatile gene-based association study for the combined effects of all SNPs, all in or around the seven target genes, and the versatile pathway-based approach for the combined effects of these seven target genes, consecutively.& nbsp;Results: In our analysis, we found neither a significant SNP-based nor gene-based association with NSCL/P for any of the 144 relevant SNPs or the seven target genes. However, novel evidence of a significant association (P = 6.00 x 10(-6)) with NSCL/P was observed in the combined effects of these seven target genes in the versatile pathway-based analysis.& nbsp;Conclusions: Our results were consistent with the findings of previously published human sequencing studies and reinforced the role of these cell-cell AJs-related genes in the pathogenesis of NSCL/P that may be replicated using data from other genome-wide association studies. This pathway approach better reflects our current understanding of the biological mechanisms underlying the aetiology of NSCL/P.
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页数:5
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