Genome-Wide Scan for Parent-of-Origin Effects in a Sub-Saharan African Cohort With Nonsyndromic Cleft Lip And/or Cleft Palate (CL/P)

Overview

Journal Cleft Palate Craniofac J

Specialties Dentistry
General Surgery

Date 2021 Aug 12

PMID 34382870

Citations 2

Authors

Lord J J Gowans

Carissa L Comnick

Peter A Mossey

Mekonen A Eshete

Wasiu L Adeyemo

Thirona Naicker

Waheed A Awotoye

Aline Petrin

Chinyere Adeleke

Peter Donkor

Tamara D Busch

Olutayo James

Mobolanle O Ogunlewe

Mary Li

Joy Olotu

Mohaned Hassan

Oluwole A Adeniyan

Solomon Obiri-Yeboah

Fareed K N Arthur

Pius Agbenorku

Alexander A Oti

Olubukola Olatosi

Olawale O Adamson

Azeez A Fashina

Erliang Zeng

Mary L Marazita

Adebowale A Adeyemo

Jeffrey C Murray

Azeez Butali

Affiliations

Soon will be listed here.

Abstract

Objective: Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene-environment interactions, stochastic factors, gene-gene interactions, and parent-of-origin effects (POEs) play cardinal roles. POEs arise when the parental origin of alleles differentially impacts the phenotype of the offspring. The aim of this study was to identify POEs that can increase risk for NSCL/P in humans using a genome-wide dataset.

Methods: The samples (174 case-parent trios from Ghana, Ethiopia, and Nigeria) included in this study were from the African only genome wide association studies (GWAS) that was published in 2019. Genotyping of individual DNA using over 2 million multiethnic and African ancestry-specific single-nucleotide polymorphisms from the Illumina Multi-Ethnic Genotyping Array v2 15070954 A2 (genome build GRCh37/hg19) was done at the Center for Inherited Diseases Research. After quality control checks, PLINK was employed to carry out POE analysis employing the pooled subphenotypes of NSCL/P.

Results: We observed possible hints of POEs at a cluster of genes at a 1 mega base pair window at the major histocompatibility complex class 1 locus on chromosome 6, as well as at other loci encompassing candidate genes such as , , , , , , , , , lncRNAs, microRNA, antisense RNAs, , , and .

Conclusion: Findings from our study suggest that some loci may increase the risk for NSCL/P through POEs. Additional studies are required to confirm these suggestive loci in NSCL/P etiology.

Citing Articles

Meta-analysis and systematic review for the genetic basis of cleft lip and palate.

Alghonemy W, Gaber Ashmawy M J Oral Biol Craniofac Res. 2025; 15(1):146-152.

PMID: 39866383 PMC: 11760811. DOI: 10.1016/j.jobcr.2024.12.012.

Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development.

Zhang W, Chen L, Ma A, Jiang W, Xu M, Bai X BMC Med Genomics. 2024; 17(1):280.

PMID: 39614345 PMC: 11605882. DOI: 10.1186/s12920-024-02054-8.

Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations.

Park J, Kang G, Baek S, Kim Y Epidemiol Health. 2024; 46:e2024069.

PMID: 39139080 PMC: 11576525. DOI: 10.4178/epih.e2024069.

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