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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)
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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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter 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
Zeitschrift Journal of Clinical Periodontology
Quellenangaben Band: 41, Heft: 6, Seiten: 531-540 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Hoboken
Begutachtungsstatus