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de Jong, T.M.* ; Jochens, A.* ; Jockel-Schneider, Y.* ; Harks, I.* ; Dommisch, H.* ; Graetz, C.* ; Flachsbart, F.* ; Staufenbiel, I.* ; Eberhard, J.* ; Folwaczny, M.* ; Noack, B.* ; Meyle, J.* ; Eickholz, P.* ; Gieger, C. ; Grallert, H. ; Lieb, W.* ; Franke, A.* ; Nebel, A.* ; Schreiber, S.* ; Doerfer, C.* ; Jepsen, S.* ; Bruckmann, C.* ; van der Velden, U.* ; Loos, B.G.* ; Schäfer, A.S.* ; KORA Study Group (Holle, R. ; Illig, T. ; John, J. ; Meisinger, C. ; Peters, A. ; Wichmann, H.-E.)

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

J. Clin. Periodontol. 41, 531-540 (2014)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
AIM: Identification of variants within genes SLC23A1 and SLC23A2 coding for vitamin C transporter proteins associated with aggressive (AgP) and chronic periodontitis (CP). MATERIALS AND METHODS: 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). RESULTS: 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. 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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Slc23a1 ; Slc23a2 ; Snp ; Periodontitis ; Association ; Vitamin C; Genome-wide Association; Genetic-variation; Ascorbic-acid; Risk-factors; Plasma; Population; Disease; Susceptibility; Prevalence; Leukocytes
ISSN (print) / ISBN 0303-6979
e-ISSN 1600-051X
Journal Journal of Clinical Periodontology
Quellenangaben Volume: 41, Issue: 6, Pages: 531-540 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Hoboken
Reviewing status Peer reviewed
Institute(s) Institute of Genetic Epidemiology (IGE)
Institute of Lung Health and Immunity (LHI)
Institute of Health Economics and Health Care Management (IGM)
Institute of Epidemiology (EPI)
German Center for Diabetes Reseach (DZD)