Genomewide Association Studies On Dental Caries


Genome Wide Association Studies (GWAS) for dental caries have investigated overall caries experience, specific presentations of disease and the presence or absence of disease in pediatric population.

Decayed, Missing, and Filled Surfaces (DMFS)/dentures’ positive correlations were seen for cardio-metabolic risk factors, including smoking and obesity, while negative correlations were seen for longevity and educational attainment trait.

Using a Mendelian Randomisation analysis framework, there was an evidence suggesting that biological processes leading to dental caries may have downstream effects on general health.

In humans, WNT10A mutations have been reported to cause isolated defects in tooth number and quality and to regulate the cusp architecture and other morphological characteristics of teeth.

The two tables (Table 1 and Table 2) below describe the dominant mutations involved in causing dental caries and their role:

Strongest Statistical Association
Largest estimated per-allele effect
Combined analysis association
HLA region of chromosome 6 – HLA class II
DMFS / dentures7 novel risk loci-
e.g. WNT10A, PITX1, CA12 and in the HLA region
Dental caries related susceptibility lociTAS2R38
Table 1: Dominant Mutations
rs1122171It is a missense variant within WNT10A which results in a phenylalanine to isoleucine substitution and is predicted to have deleterious consequences in multiple WNT10A transcripts.
rs121908120These molecules are expressed by antigen presenting cells, and alleles of HLA class II are thought to modulate the composition of the oral microbiome, including the cariogenic Gram-positive organism Streptococcus mutans.
WNT10AIt is the locus harbouring the variant with the largest associated effect in the DMFS/dentures analysis, encodes a member of the WNT/β-catenin family of signalling proteins
TAS2R38 and TAS1R2 These genes mediate tase sensation. Variations in these genes makes an individual choose to eat cariogenic food which makes them potential candidates for dental caries.7
Table 2: Mutations involved in dental caries and their description


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