title: Exploratory investigation of genetic associations with basal cell carcinoma risk: genome-wide association study in Jeju Island, Korea.
abstract: OBJECTIVE
  Little is known about the genetic associations with Basal cell carcinoma (BCC) risk in non-Caucasian populations, in which BCC is rare, as in Korea. We here conducted a pilot genome-wide association study (GWAS) in 12 patients and 48 standard controls.
  
  
  METHODS
  A total of 263,511 SNPs were analyzed with the Illumina HumanOmni1 Quad v1.0 DNA Analysis BeadChip for cases and Korean HapMap 570K for controls.
  
  
  RESULTS
  SNP-based analyses, based on the allele genetic model with adjustment for sex and age showed suggestive associations with BCC risk for 6 SNPs with a P-value (P < 0.0005). However, these associations were not statistically significant after Bonferroni correction: rs1040503, rs2216491, rs13407683, rs4751072, rs9891263, and rs1368474. In addition, results from gene-based analyses showed suggestive associations with BCC risk for 33 candidate genes with a P-value (P <0.0005). Consistent with previous GWAS and replication studies in Caucasian populations, PADI6, RHOU and SLC45A2 were identified as having null associations with BCC (P > 0.05), likely due to the smaller sample size.
  
  
  CONCLUSIONS
  Although this was a small-scale negative study, to our knowledge, we have conducted the first GWAS for BCC risk in an Asian population. Further large studies in non-Caucasian populations are required to achieve statistical significance and confirm these findings.
authors.affiliation: Departments of Plastic and Reconstructive Surgery, School of Medicine, Jeju National University , Jeju, Korea E-mail : newwd7@gmail.com.
authors.forename: Byung Min
authors.initials: BM
authors.lastname: Yun
authors.forename: Jung-Kook
authors.initials: JK
authors.lastname: Song
authors.forename: Ji-Young
authors.initials: JY
authors.lastname: Lee
mesh_terms: D044466:Asian People / Q000235:genetics*; D002280:Basal Cell Carcinoma / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D012878:Skin Neoplasms / Q000235:genetics*