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Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.

W Awotoye1, C Comnick2, C Pendleton2

  • 1Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA, USA.

Journal of Dental Research
|October 25, 2021
PubMed
Summary

This study identified a novel genetic risk locus on chromosome 8p22 for nonsyndromic orofacial clefts (nsOFCs) with significant gene-by-sex interaction effects. The findings highlight sex-specific genetic contributions to nsOFCs, offering new insights into its etiology.

Keywords:
bioinformaticscraniofacial anomaliescraniofacial biology/geneticsdevelopmental biologygender differencesgene expression

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Area of Science:

  • Genetics
  • Human Health
  • Population Studies

Background:

  • Nonsyndromic orofacial clefts (nsOFCs) have a significant genetic component, but only 25% of phenotypic variation is explained by known risk loci.
  • Sex differences in nsOFC incidence are well-documented, yet the investigation of sex-specific genetic effects remains understudied.

Purpose of the Study:

  • To explore sex-specific genetic effects in the etiology of nsOFCs.
  • To conduct a genome-wide gene × sex (GxSex) interaction study in a sub-Saharan African cohort.

Main Methods:

  • A genome-wide gene × sex (GxSex) interaction study was performed on 1,019 nsOFC cases and 2,159 controls from Ethiopia, Ghana, and Nigeria.
  • An additive logistic model was used to analyze joint genotype and GxSex interaction effects.
  • Loci with suggestive significance (P < 1E-5) were examined for GxSex interaction effects.

Main Results:

  • A novel risk locus on chromosome 8p22 (rs2720555) demonstrated genome-wide significant joint and GxSex interaction effects (pGxSex = 1.49E-09).
  • The risk allele at 8p22 decreased nsOFC risk in males (OR=0.60) but increased risk in females (OR=1.36).
  • The female-specific effect was replicated in an independent cohort (OR=1.30), while the male effect was not significant.

Conclusions:

  • Genome-wide GxSex interaction analysis is a powerful approach for discovering novel nsOFC risk loci and genes.
  • The identified 8p22 locus exhibits significant sex-specific effects, contributing to the understanding of nsOFC genetic etiology.
  • This locus is located within a topologically associating domain containing craniofacially expressed genes crucial for embryonic development.