Aggressive Periodontitis[edit]
rs6596473 is a SNP in the wikipedia:SLC23A1 gene (chromosome 5q23) that has been associated with wikipedia:aggressive periodontitis [PMID 24708273]. Aggressive periodontitis is a form of wikipedia:periodontitis characterized by gum bleeding, inflammation, pocketing, rapid bone destruction, and onset in younger patients relative to wikipedia: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) [PMID 24708273].
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 [PMID 20592130].
Vitamin C deficiency is not only associated with scurvy-related periodontitis [PMID 6448982], but importantly lower vitamin C plasma levels have been reported in periodontitis patients compared to healthy controls [PMID 8284303], [PMID 15642065], [PMID 17378886], [PMID 17311956]. Furthermore, SLC23A1 SNP rs33972313 has been associated with lower vitamin C plasma concentrations [PMID 20519558
]. It is unknown whether the association between the C allele variant of rs6596473 and aggressive periodontitis is instead due to linkage equilibrium.
[PMID 20588054] Vitamin C Transporter Gene Polymorphisms, Dietary Vitamin C and Serum Ascorbic Acid
[PMID 18636124] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.
[PMID 19243932] Genetic variation in sodium-dependent ascorbic acid transporters and risk of gastric cancer in Poland.
[PMID 24284447] Polymorphisms in the sodium-dependent ascorbate transporter gene SLC23A1 are associated with susceptibility to Crohn disease
]. It is unknown whether the association between the C allele variant of rs6596473 and aggressive periodontitis is instead due to linkage equilibrium.
