Title: Prioritisation of candidate genes and single nucleotide polymorphisms for dental caries susceptibility

Authors: Agathi Nicolaou; Masayuki Shibata; Scott R. Diehl

Addresses: Department of Health Informatics, Rutgers School of Health Related Professions, Newark, New Jersey 10707, USA; Center for Pharmacogenomics and Complex Disease Research, Rutgers School of Dental Medicine, Newark, New Jersey 07101, USA ' Department of Health Informatics, Rutgers School of Health Related Professions, Newark, New Jersey 07107, USA ' Department of Oral Biology; Center for Pharmacogenomics and Complex Disease Research, Rutgers School of Dental Medicine, Newark, New Jersey 07101, USA

Abstract: Discovery of causal genes and awareness of risk factors for dental caries may assist development of personalised prevention and early detection of dental caries. A computational approach to identify and prioritise candidate genes and single nucleotide polymorphisms (SNPs) was developed and applied to dental caries susceptibility. Information on normal biological functions from gene ontology (GO) and on clinical relevance from the genetic association studies reported in literature identified good candidate genes. Although no significant agreement was found between the selected genes/SNPs from our study to those obtained from the first genome wide association study (GWAS) for caries susceptibility, it should be noted that the GWAS showed only moderate to weak associations. The genes that were prioritised in our study may still serve as high priority targets for searches of rare variants by whole exome/genome sequencing in future.

Keywords: dental caries; candidate genes; single nucleotide polymorphisms; SNPs; gene ontology; genome wide association study; GWAS; tooth decay; teeth cavities; caries susceptibility; cavity susceptibility; dentistry.

DOI: 10.1504/IJMEI.2014.065440

International Journal of Medical Engineering and Informatics, 2014 Vol.6 No.4, pp.381 - 397

Published online: 31 Oct 2014 *

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