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

Autor: Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; 98764School of Medicine and Dentistry, 260806Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., Comnick CL; Division of Biostatistics and Computational Biology, College of Dentistry, 12243University of Iowa, Iowa City, IA, USA., Mossey PA; Department of Orthodontics, University of Dundee, Dundee, UK., Eshete MA; Department of Surgery, School of Medicine, Addis Ababa University, Addis Ababa, Ethiopia., Adeyemo WL; Department of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria., Naicker T; Department of Pediatrics, Universityof KwaZulu-Natal and Inkosi Albert Luthuli Central Hospital, South Africa., Awotoye WA; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., Petrin A; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., Adeleke C; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., Donkor P; 98764School of Medicine and Dentistry, 260806Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Busch TD; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., James O; Department of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria., Ogunlewe MO; Department of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria., Li M; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., Olotu J; Department of Anatomy, University of Port Harcourt, Nigeria., Hassan M; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA., Adeniyan OA; 9898NHS Foundation Trust (Queens Hospital, Belvedere Road, Burton-On-Trent), Staffordshire, UK., Obiri-Yeboah S; 98764School of Medicine and Dentistry, 260806Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Arthur FKN; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Agbenorku P; 98764School of Medicine and Dentistry, 260806Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Oti AA; 98764School of Medicine and Dentistry, 260806Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Olatosi O; Center for Craniofacial and Dental Genetics, School of Dental Medicine, 6614University of Pittsburgh, Pittsburgh, PA, USA., Adamson OO; Department of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria., Fashina AA; Department of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria., Zeng E; Division of Biostatistics and Computational Biology, College of Dentistry, 12243University of Iowa, Iowa City, IA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, School of Dental Medicine, 6614University of Pittsburgh, Pittsburgh, PA, USA.; Graduate School of Public Health, 6614University of Pittsburgh, Pittsburgh, PA, USA.; Clinical and Translational Science Institute, School of Medicine, 6614University of Pittsburgh, Pittsburgh, PA, USA., Adeyemo AA; Center for Research on Genomics and Global Health, 2511National Human Genome Research Institute, Bethesda, MD, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa, IA, USA., Butali A; Department of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Jazyk: angličtina
Zdroj: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2022 Jul; Vol. 59 (7), pp. 841-851. Date of Electronic Publication: 2021 Aug 12.
DOI: 10.1177/10556656211036316
Abstrakt: 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 ASB18 , ANKEF1 , AGAP1 , GABRD , HHAT , CCT7 , DNMT3A , EPHA7 , FOXO3 , lncRNAs, microRNA, antisense RNAs, ZNRD1 , ZFAT , and ZBTB16 .
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.
Databáze: MEDLINE