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Journal of Peking University(Health Sciences) >

2020 , Vol. 52 >Issue 5: 815 - 820

DOI: https://doi.org/10.19723/j.issn.1671-167X.2020.05.004

Evaluating the effect of WNT pathway genes considering interactions on the risk of non-syndromic oral clefts among Chinese populations

  • Meng-ying WANG ,
  • Wen-yong LI ,
  • Ren ZHOU ,
  • Si-yue WANG ,
  • Dong-jing LIU ,
  • Hong-chen ZHENG ,
  • Jing LI ,
  • Nan LI ,
  • Zhi-bo ZHOU ,
  • Hong-ping ZHU ,
  • Tao WU ,
  • Yong-hua HU
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  • 1. Department of Epidemiology and Biostatistics, Peking University School of Public Health, Beijing 100191, China
    2. Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China
    3. Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing 100081, China

Received date: 2018-07-10

  Online published: 2020-10-15

Supported by

National Natural Science Foundation of China(81102178);National Natural Science Foundation of China(81573225);Beijing Municipal Natural Science Foundation(7172115)

Fold

Abstract

Objective: In this study, we used genome-wide association study (GWAS) data to explore whether WNT pathway genes were associated with non-syndromic oral clefts (NSOC) considering gene-gene interaction and gene-environment interaction. Methods: We conducted the analysis using 806 non-syndromic cleft lip with or without cleft palate (NSCL/P) case-parent trios and 202 non-syndromic cleft palate (NSCP) case-parent trios among Chinese populations selected from an international consortium established for a GWAS of non-syndromic oral clefts. Genotype data and maternal environmental exposures were collected through DNA samples and questionnaires. Conditional Logistic regression models were adopted to explore gene-gene interaction and gene-environment interaction using trio package in R software. The threshold of significance level was set as 3.47×10-4 using Bonferroni correction. Results: A total of 144 single nucleotide polymorphisms (SNPs) in seven genes passed the quality control process in NSCL/P trios and NSCP trios, respectively. Totally six pairs of SNPs interactions showed statistically significant SNP-SNP interaction (P<3.47×10-4) after Bonferroni correction, which were rs7618735 (WNT5A) and rs10848543 (WNT5B), rs631948 (WNT11) and rs556874 (WNT5A), and rs631948 (WNT11) and rs472631 (WNT5A) among NSCL/P trios; rs589149 (WNT11) and rs4765834 (WNT5B), rs1402704 (WNT11) and rs358792 (WNT5A), and rs1402704 (WNT11) and rs358793 (WNT5A) among NSCP trios, respectively. In addition, no significant result was found for gene-environment interaction analysis in both of the NSCL/P trios and NSCP trios. Conclusion: Though this study failed to detect significant association based on gene-environment interactions of seven WNT pathway genes and the risk of NSOC, WNT pathway genes may influence the risk of NSOC through potential gene-gene interaction.

Key words： Non-syndromic oral clefts; Genome-wide association studies; WNT signaling pathway

Cite this article

Meng-ying WANG , Wen-yong LI , Ren ZHOU , Si-yue WANG , Dong-jing LIU , Hong-chen ZHENG , Jing LI , Nan LI , Zhi-bo ZHOU , Hong-ping ZHU , Tao WU , Yong-hua HU . Evaluating the effect of WNT pathway genes considering interactions on the risk of non-syndromic oral clefts among Chinese populations[J]. Journal of Peking University(Health Sciences), 2020 , 52(5) : 815 -820 . DOI: 10.19723/j.issn.1671-167X.2020.05.004

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