title: Effect of genetic polymorphisms in CA6 gene on the expression and catalytic activity of human salivary carbonic anhydrase VI.
abstract: Carbonic anhydrase isoenzyme VI (CA VI) plays an important role in the homeostasis of oral tissues participating in the processes of taste, protection of dental tissues against the loss of minerals, caries, and possibly in the formation of dental calculus in periodontal disease. This study aimed to verify the correlation between changes in the expression and activity of human salivary carbonic anhydrase VI and genetic polymorphisms in its gene (CA6). The study population consisted of 182 healthy volunteers (female and male, aged 18-22). Samples of total saliva were assayed for CA VI concentrations using a specific time-resolved immunofluorometric assay. CA VI catalytic activity was detected by a modified protocol of Kotwica et al. [J Physiol Pharmacol 2006;57(suppl 8):107-123], adapted to CA VI in saliva. Samples of genomic DNA were genotyped for polymorphisms rs2274327 (C/T), rs2274328 (A/C) and rs2274333 (A/G) by TaqMan® SNP Genotyping Assays. The concentration and catalytic activity of the salivary CA VI obtained for the different genotypes were analyzed using the Kruskal-Wallis nonparametric test and the Dunn test. The results showed that individuals with TT genotype (rs2274327) had significantly lower CA VI concentrations than the individuals with genotypes CT or CC (p < 0.05). There was also an association between polymorphism rs2274333 and salivary CA VI concentrations. There were no associations between the three polymorphisms analyzed and variations in CA VI activity. Our results suggest that polymorphisms in the CA6 gene are associated with the concentrations of secreted CA VI.
authors: Department of Morphology, Piracicaba Dental School, University of Campinas-Unicamp, Sao Paulo, Brazil.
authors: M
authors: M
authors: Aidar
authors: Rocha
authors: R
authors: Marques
authors: J
authors: J
authors: Valjakka
authors: N
authors: N
authors: Mononen
authors: T
authors: T
authors: Lehtimäki
authors: S
authors: S
authors: Parkkila
authors: A P
authors: AP
authors: de Souza
authors: S R Peres
authors: SR
authors: Line
mesh_terms: D000225:Adenine; D000293:Adolescent; D000483:Alleles; D055162:Biocatalysis; D002256:Carbonic Anhydrases / Q000032:analysis / Q000235:genetics*; D003596:Cytosine; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006147:Guanine; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D005810:Multigene Family / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012463:Saliva / Q000201:enzymology; D012471:Salivary Proteins and Peptides / Q000032:analysis / Q000235:genetics*; D013941:Thymine; D055815:Young Adult
chemical_list: D012471:Salivary Proteins and Peptides; D006147:Guanine; D003596:Cytosine; D002256:Carbonic Anhydrases; C477051:carbonic anhydrase VI; D000225:Adenine; D013941:Thymine