title: Association between CDK5RAP1 polymorphisms and susceptibility to vitiligo in the Korean population.
abstract: The neuronal theory of the pathogenesis of vitiligo is supported by clinical, ultrastructural and biochemical findings. Cyclin-dependent kinase 5 regulatory subunit associated protein 1 (CDK5RAP1) is expressed in neuronal tissues, and cyclin-dependent kinase 5 (CDK5) seems to be critically involved in the migration of neuroblasts during early post-natal development. To evaluate whether CDK5RAP1 polymorphisms are associated with vitiligo patients in the Korean population, we conducted a case-control association study of 296 vitiligo patients and 426 healthy controls. A total of two single nucleotide polymorphisms (SNPs) of CDK5RAP1 were investigated. Genotypes were determined by polymerase chain reaction (PCR) and direct sequencing. A synonoymous SNP (rs291700, Thr54Thr) and intron SNP (rs158676) of CDK5RAP1 were associated with onset age of the vitiligo (rs291700, p=0.040 in co-dominant 1 and p=0.036 in overdominant; rs158676, p=0.034 in overdominant). Haplotype (AC) showed a difference between the vitiligo and control groups (p=0.036). These results suggest that CDK5RAP1 may be a risk factor of vitiligo in the Korean population.
authors.affiliation: Department of Dermatology, Kohwang Medical Research Institute, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Min-Kyung
authors.initials: MK
authors.lastname: Shin
authors.forename: Yoon-Kyung
authors.initials: YK
authors.lastname: Uhm
authors.forename: Jong-Ho
authors.initials: JH
authors.lastname: Lee
authors.forename: Su-Kang
authors.initials: SK
authors.lastname: Kim
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
authors.forename: Mu-Hyoung
authors.initials: MH
authors.lastname: Lee
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014820:Vitiligo / Q000235:genetics*; D019885:Sulfur Group Transferases; D024101:Mitochondrial Proteins
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; C405930:CDK5RAP1 protein, human; D019885:Sulfur Group Transferases; D024101:Mitochondrial Proteins