Rs6596473

Aggressive Periodontitis
rs6596473 is a SNP in the SLC23A1 gene (chromosome 5q23) that has been associated with aggressive periodontitis. Aggressive periodontitis is a form of periodontitis characterized by gum bleeding, inflammation, pocketing, rapid bone destruction, and onset in younger patients relative to chronic periodontitis. Aggressive periodontitis ultimately leads to tooth loss.

The candidate SNP study compared a population of German residents (parents and grandparents were born in Germany) previously diagnosed with aggressive periodontitis (cases n=674) to a population of periodontitis-free German blood donors (controls, n=2891). The study found an enrichment of the rare C allele in the individuals with aggressive periodontitis (OR=1.23, p=0.017 (meets Bonferroni correction), 95% CI=1.04-1.45).

The SLC23A1 gene encodes SVCT1, one of two sodium-dependent transporters needed for the hepatic absorption and renal reabsorption of Vitamin C (ascorbic acid) and thus necessary for maintenance of plasma Vitamin C homeostasis.

Vitamin C deficiency is not only associated with scurvy-related periodontitis, but importantly lower vitamin C plasma levels have been reported in periodontitis patients compared to healthy controls , , ,. Furthermore, SLC23A1 SNP rs33972313 has been associated with lower vitamin C plasma concentrations. It is unknown whether the association between the C allele variant of rs6596473 and aggressive periodontitis is instead due to linkage equilibrium.