SLC23A1 polymorphism rs6596473 in the vitamin C transporter SVCT1 is associated with aggressive periodontitis.
OBJECTIVE
Identification of variants within genes SLC23A1 and SLC23A2 coding for vitamin C transporter proteins associated with aggressive (AgP) and chronic periodontitis (CP).


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.


CONCLUSIONS
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.
Department of Periodontology and Oral Biochemistry, Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam, VU University Amsterdam, Amsterdam, The Netherlands.
Thijs M H
TM
de Jong
Arne
A
Jochens
Yvonne
Y
Jockel-Schneider
Inga
I
Harks
Henrik
H
Dommisch
Christian
C
Graetz
Friederike
F
Flachsbart
Ingmar
I
Staufenbiel
Jörg
J
Eberhard
Mathias
M
Folwaczny
Barbara
B
Noack
Joerg
J
Meyle
Peter
P
Eickholz
Christian
C
Gieger
Harald
H
Grallert
Wolfgang
W
Lieb
Andre
A
Franke
Almut
A
Nebel
Stefan
S
Schreiber
Christof
C
Doerfer
Søren
S
Jepsen
Corinna
C
Bruckmann
Ubele
U
van der Velden
Bruno G
BG
Loos
Arne S
AS
Schaefer
D000328:Adult; D000369:Aged, 80 and over; D010520:Aggressive Periodontitis / Q000235:genetics*; D016301:Alveolar Bone Loss / Q000235:genetics; D016022:Case-Control Studies; D055113:Chronic Periodontitis / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012737:Sex Factors; D012907:Smoking; D060347:Sodium-Coupled Vitamin C Transporters / Q000235:genetics*
C555162:SLC23A1 protein, human; C555163:SLC23A2 protein, human; D060347:Sodium-Coupled Vitamin C Transporters
SLC23A1; SLC23A2; association; periodontitis; single nucleotide polymorphism; vitamin C