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rs6596473

From SNPedia

Orientationplus
Stabilizedplus
Make rs6596473(C;C)
Make rs6596473(C;G)
Make rs6596473(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position139374887
GeneSLC23A1
is asnp
is mentioned by
dbSNPrs6596473
ebirs6596473
HLIrs6596473
Exacrs6596473
Varsomers6596473
Maprs6596473
PheGenIrs6596473
hapmaprs6596473
1000 genomesrs6596473
hgdprs6596473
ensemblrs6596473
gopubmedrs6596473
geneviewrs6596473
scholarrs6596473
googlers6596473
pharmgkbrs6596473
gwascentralrs6596473
openSNPrs6596473
23andMers6596473
23andMe allrs6596473
SNP Nexus

SNPshotrs6596473
SNPdbers6596473
MSV3drs6596473
GWAS Ctlgrs6596473
GMAF0.4899
Max Magnitude
? (C;C) (C;G) (G;G) 28

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 20519558OA-icon.png]. 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 18636124OA-icon.png] Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.


[PMID 19243932OA-icon.png] 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