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

• Published in: Journal of clinical periodontology 2014-06, Vol.41 (6), p.531-540
• Main Authors: de Jong, Thijs M. H., Jochens, Arne, Jockel-Schneider, Yvonne, Harks, Inga, Dommisch, Henrik, Graetz, Christian, Flachsbart, Friederike, Staufenbiel, Ingmar, Eberhard, Jörg, Folwaczny, Mathias, Noack, Barbara, Meyle, Joerg, Eickholz, Peter, Gieger, Christian, Grallert, Harald, Lieb, Wolfgang, Franke, Andre, Nebel, Almut, Schreiber, Stefan, Doerfer, Christof, Jepsen, Søren, Bruckmann, Corinna, van der Velden, Ubele, Loos, Bruno G., Schaefer, Arne S.
• Format: Article
• Language: English
• Subjects: Adult; Aged, 80 and over; Aggressive Periodontitis - genetics; Alveolar Bone Loss - genetics; association; Case-Control Studies; Chronic Periodontitis - genetics; Dentistry; Female; Gene Frequency - genetics; Genetic Variation - genetics; Genotype; Gum disease; Humans; Male; Middle Aged; Pathogenesis; periodontitis; Polymorphism; Polymorphism, Single Nucleotide - genetics; Sex Factors; single nucleotide polymorphism; SLC23A1; SLC23A2; Smoking; Sodium-Coupled Vitamin C Transporters - genetics; Vitamin C
• ISSN: 0303-6979; 1600-051X
• DOI: 10.1111/jcpe.12253

Aim Identification of variants within genes SLC23A1 and SLC23A2 coding for vitamin C transporter proteins associated with aggressive (AgP) and chronic periodontitis (CP). Material and Methods Employment of three independent case–control samples of AgP (I. 283 cases, 979 controls; II. 417 cases, 1912 controls; III. 164 cases, 357 controls) and one sample of CP (1359 cases, 1296 controls). Results Stage 1: Among the tested single‐nucleotide polymorphisms (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, 2891 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. Conclusion 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.