SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis.

Thijs M H de Jong, Arne Jochens, Yvonne Jockel-Schneider, Inga Harks, Henrik Dommisch, Christian Graetz, Friederike Flachsbart, Ingmar Staufenbiel, Jörg Eberhard, Mathias Folwaczny, Barbara Noack, Joerg Meyle, Peter Eickholz, Christian Gieger, Harald Grallert, Wolfgang Lieb, Andre Franke, Almut Nebel, Stefan Schreiber, Christof Doerfer, Søren Jepsen, Corinna Bruckmann, Ubele van der Velden, Bruno G Loos, Arne S Schaefer
Year of publication:
Journal title abbreviated:
Journal title long:
Journal of clinical periodontology
Impact factor:
Identification of variants within genes SLC23A1 and SLC23A2 coding for vitamin C transporter proteins associated with aggressive (AgP) and chronic periodontitis (CP).Employment of three independent case-control samples of AgP (I. 283 cases, 979 controls; II. 417 cases, 1,912 controls; III. 164 cases, 357 controls) and one sample of CP (1,359 cases, 1,296 controls).Stage 1: Among the tested SNPs, the rare allele (RA) of rs6596473 in SLC23A1 showed nominal significant association with AgP (p = 0.026, odds ratio [OR] 1.26, and a highly similar minor allele frequency between different control panels. Stage 2: rs6596473 showed no significant association with AgP in the replication with the German and Dutch case-control samples. After pooling the German AgP populations (674 cases, 2,891 controls) to significantly increase the statistical power (SP = 0.81), rs6596473 RA showed significant association with AgP prior to and upon adjustment with the covariates smoking and gender with padj = 0.005, OR = 1.35. Stage 3: RA of rs6596473 showed no significant association with severe CP.SNP rs6596473 of SLC23A1 is suggested to be associated with AgP. These results add to previous reports that vitamin C plays a role in the pathogenesis of periodontitis. This article is protected by copyright. All rights reserved.