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 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.
Subject(s)
Cleft Lip , Cleft Palate , Africa South of the Sahara , Cleft Lip/genetics , Cleft Palate/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Polymorphism, Single NucleotideABSTRACT
OBJECTIVE: To report the experience of wrong-site tooth extraction among Nigerian dentists. STUDY DESIGN: A self-administered questionnaire was distributed among a cross-section of Nigerian dentists. Information requested included personal experience on wrong-site tooth/teeth extraction and its after-effect, possible reasons for wrong-site tooth extraction and documentation of the event in patients' case. Respondents were also asked if they were aware of any colleagues who had previously experienced wrong-site tooth extraction and possible legal implication of the event, and if they aware of the universal protocol for preventing wrong site, wrong procedure, and wrong person surgery. RESULTS: Twenty-two (13%) of the respondents reported having extracted a wrong tooth. The event occurred within 5 years after graduation in most cases. Most respondents (53.6%) informed the patient immediately after the event. Only 68% of the respondents documented the event in patient's case record. Most common reasons for wrong-site tooth extraction were heavy workload, presence of multiple condemned teeth and miscommunication between dentists. Fifty-five percent of respondents were aware of a colleague who had extracted a wrong tooth. The most probable legal implication of wrong-site tooth extraction according to the respondents was litigation by the patient. Only 25% of dentists were aware of a universal protocol for preventing wrong-site surgery. CONCLUSIONS: Wrong tooth/teeth extraction is not an uncommon event in the studied environment. The need to be familiar with universal protocol on wrong-site surgery and its legal implications are highlighted.
