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Related Experiment Video

Updated: Jun 10, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts.

Xinze Xu1,2, Xiaofeng Li1,2, Minxuan Han1,2,3

  • 1State Key Laboratory of Cultivation Base of Research, Prevention and Treatment for Oral Diseases, Nanjing Medical University, Nanjing, China.

Birth Defects Research
|October 15, 2024
PubMed
Summary

Genetic variants in N6-methyladenosine (m6A) modification genes, specifically rs8078195 in METTL16, are linked to non-syndrome orofacial clefts (NSOCs) risk. This finding may impact understanding of NSOCs development.

Keywords:
METTL16NSOCsRNA methylationgenetic variants

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • N6-methyladenosine (m6A) is a crucial RNA modification involved in various cellular processes and diseases.
  • Understanding genetic factors influencing non-syndrome orofacial clefts (NSOCs) is vital for diagnosis and treatment.

Purpose of the Study:

  • To investigate the association between genetic variants in m6A modification genes and the risk of developing NSOCs.
  • To identify specific single nucleotide polymorphisms (SNPs) that may contribute to NSOCs susceptibility.

Main Methods:

  • Transmission disequilibrium test (TDT) analysis of 944 case-parent trios.
  • Functional prediction of SNPs using HaploReg, RegulomeDB, and histone enrichment data.
  • Expression quantitative trait locus (eQTL) analysis via GTEx and eQTLGen, alongside gene expression correlation and enrichment analyses.

Main Results:

  • A suggestive association was found between SNP rs8078195 (A>C) in the METTL16 gene and an increased risk of NSOCs (OR=1.32, p=1.80E-03).
  • The rs8078195 region exhibited hypersensitivity and histone modifications, with significant eQTL effects for METTL16 in skin and blood tissues.
  • Bioinformatic analysis suggested METTL16 influences NSOC development, potentially by regulating the cell cycle process.

Conclusions:

  • The genetic variant rs8078195 in the METTL16 gene is associated with the occurrence of NSOCs.
  • METTL16 may play a role in the pathogenesis of NSOCs, warranting further investigation into its regulatory mechanisms.