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SLC 23A1 polymorphism rs6596473 in the vitamin C transporter SVCT 1 is associated with aggressive periodontitis
Author(s) -
Jong Thijs M. H.,
Jochens Arne,
JockelSchneider 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,
Velden Ubele,
Loos Bruno G.,
Schaefer Arne S.
Publication year - 2014
Publication title -
journal of clinical periodontology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.456
H-Index - 151
eISSN - 1600-051X
pISSN - 0303-6979
DOI - 10.1111/jcpe.12253
Subject(s) - snp , single nucleotide polymorphism , pathogenesis , vitamin d and neurology , allele , medicine , odds ratio , periodontitis , case control study , biology , gastroenterology , genetics , immunology , genotype , gene
Aim Identification of variants within genes SLC 23A1 and SLC 23A2 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 ( SNP s), the rare allele ( RA ) of rs6596473 in SLC 23A1 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 p adj = 0.005, OR = 1.35. Stage 3: RA of rs6596473 showed no significant association with severe CP . Conclusion SNP rs6596473 of SLC 23A1 is suggested to be associated with AgP. These results add to previous reports that vitamin C plays a role in the pathogenesis of periodontitis.