Multiomics data synthesis of FAM83H in amelogenesis imperfecta

Leban, Tina (author), Kunej, Tanja (author)

Objectives: FAM83H is a critical gene implicated in amelogenesis imperfecta type IIIA (AI type IIIA), but its precise role in enamel formation remains poorly understood. Fragmented datasets, inconsistent terminology, and limited integrative analyses hinder functional interpretation. This study presents a comprehensive multi-omics analysis of FAM83H-associated AI type IIIA. Methods: A systematic literature search (February 2008-June 2025) was conducted in PubMed and Web of Science using targeted keywords spanning genomics, transcriptomics, epigenomics, miRNomics, proteomics, interactomics, epiproteomics, metabolomics, glycomics, lipidomics, intracellular localization, phenomics, pharmacogenomics, and environmental omics. Data were extracted using 13 bioinformatic tools and databases including Ensembl, ENCODE, OMIM, HGNC, HGMD, dbSNP, gnomAD, miRBase, TargetScanHuman, MethPrimer, dbPTM, STRING, and MalaCards. Results: Of 150 screened publications, 62 met the inclusion criteria and were categorized across 12 omics layers. Key findings, derived from both published studies and bioinformatic databases/tools, include 38 single nucleotide polymorphisms (SNPs), two CpG islands, 932 predicted micro RNA (miRNA) binding sites, and multiple post-translational modifications. A protein–protein interaction network constructed from 18 AI-associated proteins, including FAM83H, revealed significant connectivity among enamel matrix–related proteins and provided a framework for exploring potential functional associations Conclusion: This study presents a multi-omics regulatory atlas of FAM83H, encompassing genetic variants, epigenetic changes, and post-translational modifications that are predicted to influence its biological function and role in disease. Clinical Relevance: The integrative methodology supports FAM83H as a model gene for elucidating the molecular mechanisms of amelogenesis imperfecta and may facilitate improved diagnosis and targeted therapeutic strategies for AI type IIIA.

• Language: English
• Keywords: amelogenesis imperfecta, FAM83H, AI type IIIA, enamel formation, hypomineralization, multi-omics
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine; BF - Biotechnical Faculty
• Publication status: Published
• Publication version: Version of Record
• Year: 2026
• Number of pages: 15 str.
• Numbering: Vol. 76, iss.1, art. 109293
• PID: 20.500.12556/RUL-176873
• UDC: 575:616
• ISSN on article: 1875-595X
• DOI: 10.1016/j.identj.2025.109293
• COBISS.SI-ID: 261113859
• Publication date in RUL: 12.12.2025

Record is a part of a journal

• Title: International dental journal
• Shortened title: Int. dent. j.
• Publisher: Sijthoff, Elsevier
• ISSN: 1875-595X
• COBISS.SI-ID: 519126809

Licences

• License: CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
• Link: http://creativecommons.org/licenses/by-nc-nd/4.0/
• Description: The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.

Secondary language

• Language: Slovenian
• Keywords: genetika, medicina, dedne bolezni, amelogenesis imperfecta, zobna sklenina, beljakovine, FAM83H, multiomike

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P4-0220
• Name: Primerjalna genomika in genomska biodiverziteta