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

de Jong, Thijs M H; Jochens, Arne; Jockel-Schneider, 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; van der Velden, Ubele; Loos, Bruno G; Schaefer, Arne S

de Jong, Thijs M H; Jochens, Arne; Jockel-Schneider, 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; van der Velden, Ubele; Loos, Bruno G; Schaefer, Arne S.

Afiliación

de Jong TM; Department of Periodontology and Oral Biochemistry, Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam, VU University Amsterdam, Amsterdam, The Netherlands.

J Clin Periodontol ; 41(6): 531-40, 2014 Jun.

Article en En | MEDLINE | ID: mdl-24708273

RESUMEN

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 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.

Asunto(s)

Periodontitis Agresiva/genética; Polimorfismo de Nucleótido Simple/genética; Transportadores de Sodio Acoplados a la Vitamina C/genética; Adulto; Anciano de 80 o más Años; Pérdida de Hueso Alveolar/genética; Estudios de Casos y Controles; Periodontitis Crónica/genética; Femenino; Frecuencia de los Genes/genética; Variación Genética/genética; Genotipo; Humanos; Masculino; Persona de Mediana Edad; Factores Sexuales; Fumar

Palabras clave

SLC23A1; SLC23A2; association; periodontitis; single nucleotide polymorphism; vitamin C

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Periodontitis Agresiva / Polimorfismo de Nucleótido Simple / Transportadores de Sodio Acoplados a la Vitamina C Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: J Clin Periodontol Año: 2014 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos

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