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Carbonic Anhydrase 6 유전자의 단일염기다형성과 Phenylthiocarbamide 민감도 및 미각 장애와의 관계
배재웅,김언경,오세경,류미라,신승헌,예미경 대한이비인후과학회 2012 대한이비인후과학회지 두경부외과학 Vol.55 No.3
Background and Objectives The phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) taste sensitivity varies among individuals. Recently, it is reported that PROP taste responsiveness is associated with carbonic anhydrase 6 (CA6) gene polymorphism. The CA6 gene, a zinc metalloprotein in human saliva, is affected in taste function and might be correlated with gustatory diversity. The aim of this study was to examine whether PTC taste sensitivity and taste disorder is associated with the CA6 gene polymorphism rs2274327 (C/T), rs2274328 (A/C), and rs2274333 (A/G). Subjects and Method A total of 217 healthy normal subjects were recruited as controls, and 50 taste disorder patients were recruited as experimental group. The polymorphisms of CA6 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. All statistical analyses were calculated using the statistical package for the social science software. Haplotypes were estimated by Haploveiw and the PHASE programs. Results The CA6 gene polymorphisms showed association with taste disorder but not with PTC sensitivity (taster/nontaster). The number of control subjects carrying AA genotype of single nucleotide polymorphism rs2274328 (A/C) in the CA6 gene was higher than the number of the subjects with taste disorder (p=0.048). However, there was no association between controls and taste disorder subjects in the haplotype analysis. Conclusion These data suggest that the CA6 gene polymorphism rs2274328 could affect taste function impairment in patients with taste disorder. This observation requires a further functional study of gustin protein to clarify the association of the CA6 gene polymorphisms with the taste disorder and sensitivity.
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