Unit:
Κατεύθυνση Ορθοδοντική (Κλινικές Ειδικεύσεις)Βιβλιοθήκη Οδοντιατρικής
Supervisors info:
Ελένη Βασταρδή, Επίκουρη Καθηγήτρια, Τμήμα Οδοντιατρικής, Σχολή Επιστημών Υγείας, ΕΚΠΑ
Δημήτριος Χαλαζωνίτης, Καθηγητής, Τμήμα Οδοντιατρικής, Σχολή Επιστημών Υγείας, ΕΚΠΑ
Ηλίας Μπιτσάνης, Επίκουρος Καθηγητής, Τμήμα Οδοντιατρικής, Σχολή Επιστημών Υγείας, ΕΚΠΑ
Original Title:
Συσχέτιση γονιδίων με τη μορφολογία του κρανιοπροσωπικού συμπλέγματος. Συστηματική ανασκόπηση
Translated title:
Genes involved in human normal craniofacial shape variability: A systematic review
Summary:
Aim: The aim of the present systematic review was to summarize the available evidence on genetic variants and polymorphisms associated with craniofacial shape morphology.
Materials and methods: An electronic database search of published and unpublished literature was performed including, Medline via Pubmed, Europe PMC, Web of Science, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials (CENTRAL), Scopus, as well as ClinicalTrials.gov, Open Grey and National Research Register (www.controlled-trials.com). Search terms included “craniofacial” and “gene”. Reporting quality of the included studies was assessed through STREGA guidelines (STrengthening the REporting of Genetic Association Studies).
Results: Of the 1811 articles initially retrieved, 58 were eligible for inclusion in the review. Numerous SNPs and genetic pathways have been associated with different sub-regions of craniofacial morphology within and across populations. Polymorphisms of GHR gene, PAX and FGF/FGFR family genes as well as other less known have been implicated in the architecture of human face. Maxillo-mandibular morphology was found to be determined by GHR, ARHGAP21, Myosin 1H, FGF23, EPB41, ADAMTS1, DUSP6 and ENPP1 genes. Due to the heterogeneity in study populations, genetic variants and craniofacial characteristics, no quantitative synthesis was deemed possible. The overall quality of reporting of the included studies was positive, however items in need of significant improvement were related to potential sources of bias and studies’ discussion of limitations.
Conclusions: Various genetic variants were associated with human craniofacial morphology. GHR, PAX and FGF/FGFR genes were the most dominant genes involved in hard and soft tissue human craniofacial complex. There is a prevailing need for future large GWAS combined with advancements in 3D imaging techniques, so that genetic determinants of human craniofacial variation are better understood.
Main subject category:
Health Sciences
Keywords:
Genes, Craniofacial, Shape
File:
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Διπλωματική-Μαρινάκη.pdf
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