Association between CDK5RAP1 polymorphisms and susceptibility to vitiligo in the Korean population

作者：Shin Min Kyung; Uhm Yoon Kyung; Lee Jong Ho; Kim Su Kang; Chung Joo Ho; Lee Mu Hyoung^*

来源：European Journal of Dermatology, 2012, 22(4): 495-499.

DOI：10.1684/ejd.2012.1728

• neuronal theory
• apoptosis
• vitiligo
• single nucleotide polymorphism
• CDK5-CDK5RAP1

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 postnatal 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). %26lt;br%26gt;These results suggest that CDK5RAP1 may be a risk factor of vitiligo in the Korean population.

• 出版日期2012-8