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

被引：23

作者：

de Jong, Thijs M. H. ^{[1
]}

Jochens, Arne ^{[2
]}

Jockel-Schneider, Yvonne ^{[3
]}

Harks, Inga ^{[4
]}

Dommisch, Henrik ^{[5
]}

Graetz, Christian ^{[6
]}

Flachsbart, Friederike ^{[7
]}

Staufenbiel, Ingmar ^{[8
]}

Eberhard, Joerg ^{[9
]}

Folwaczny, Mathias ^{[10
]}

Noack, Barbara ^{[11
]}

Meyle, Joerg ^{[12
]}

Eickholz, Peter ^{[13
]}

Gieger, Christian ^{[14
]}

Grallert, Harald ^{[14
]}

Lieb, Wolfgang ^{[15
]}

Franke, Andre ^{[7
]}

Nebel, Almut ^{[7
]}

Schreiber, Stefan ^{[7
]}

Doerfer, Christof ^{[6
]}

Jepsen, Soren ^{[5
]}

Bruckmann, Corinna ^{[16
]}

van der Velden, Ubele ^{[1
]}

Loos, Bruno G. ^{[1
]}

Schaefer, Arne S. ^{[7
]}

机构：

[1] Univ Amsterdam, VU Univ Amsterdam, Acad Ctr Dent Amsterdam ACTA, Dept Periodontol & Oral Biochem, Amsterdam, Netherlands

[2] Univ Kiel, Inst Med Informat & Stat, Kiel, Germany

[3] Univ Wurzburg, Univ Med Ctr, Dept Periodontol, Clin Prevent Dent & Periodontol, D-97070 Wurzburg, Germany

[4] Clin Univ Med Ctr Munster Prevent Dent, Ctr Periodontol Operat & Prevent Dent, Munster, Germany

[5] Univ Bonn, Dept Periodontol Operat & Prevent Dent, Bonn, Germany

[6] Univ Med Ctr Schleswig Holstein, Dept Operat Dent & Periodontol, Kiel, Germany

[7] Univ Kiel, Inst Clin Mol Biol, D-24105 Kiel, Germany

[8] Hannover Med Sch, Dept Conservat Dent Periodontol & Prevent Dent, Hannover, Germany

[9] Hannover Med Sch, Dept Prosthet Dent & Biomed Mat Sci, Hannover, Germany

[10] Univ Munich, Dept Prevent Dent & Periodontol, Munich, Germany

[11] Tech Univ Dresden, Univ Med Ctr Carl Gustav Carus, Clin Prevent Dent, Ctr Periodontol Operat & Prevent Dent, D-01062 Dresden, Germany

[12] Univ Med Ctr Giessen & Marburg, Dept Periodontol, Marburg, Germany

[13] Goethe Univ Frankfurt, Dept Periodontol, Ctr Dent Oral & Maxillofacial Med Carolinum, D-60054 Frankfurt, Germany

[14] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol, Neuherberg, Germany

[15] Univ Med Ctr Schleswig Holstein, Biobank Popgen, Kiel, Germany

[16] Bernhard Gottlieb Univ, Dept Conservat Dent & Periodontol, Clin Dent, Vienna, Austria

来源：

JOURNAL OF CLINICAL PERIODONTOLOGY | 2014年 / 41卷 / 06期

关键词：

SLC23A1; periodontitis; SLC23A2; vitamin C; single nucleotide polymorphism; association; GENOME-WIDE ASSOCIATION; GENETIC-VARIATION; ASCORBIC-ACID; RISK-FACTORS; PLASMA; POPULATION; DISEASE; SUSCEPTIBILITY; PREVALENCE; LEUKOCYTES;

D O I：

10.1111/jcpe.12253

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

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 p(adj)=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.

引用

页码：531 / 540

页数：10

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