Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma

PLoS One. 2014 Apr 17;9(4):e95522. doi: 10.1371/journal.pone.0095522. eCollection 2014.

Abstract

Single nucleotide-polymorphisms (SNPs) are a source of diversity among human population, which may be responsible for the different individual susceptibility to diseases and/or response to drugs, among other phenotypic traits. Several low penetrance susceptibility genes associated with malignant melanoma (MM) have been described, including genes related to pigmentation, DNA damage repair and oxidative stress pathways. In the present work, we conducted a candidate gene association study based on proteins and genes whose expression we had detected altered in melanoma cell lines as compared to normal melanocytes. The result was the selection of 88 loci and 384 SNPs, of which 314 fulfilled our quality criteria for a case-control association study. The SNP rs6854854 in ANXA5 was statistically significant after conservative Bonferroni correction when 464 melanoma patients and 400 controls were analyzed in a discovery Phase I. However, this finding could not be replicated in the validation phase, perhaps because the minor allele frequency of SNP rs6854854 varies depending on the geographical region considered. Additionally, a second SNP (rs6431588) located on ILKAP was found to be associated with melanoma after considering a combined set of 1,883 MM cases and 1,358 disease-free controls. The OR was 1.29 (95% CI 1.12-1.48; p-value = 4×10-4). Both SNPs, rs6854854 in ANXA5 and rs6431588 in ILKAP, show population structure, which, assuming that the Spanish population is not significantly structured, suggests a role of these loci on a specific genetic adaptation to different environmental conditions. Furthermore, the biological relevance of these genes in MM is supported by in vitro experiments, which show a decrease in the transcription levels of ANXA5 and ILKAP in melanoma cells compared to normal melanocytes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Annexin A5 / genetics*
  • Case-Control Studies
  • Cell Line, Tumor
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Melanoma / genetics*
  • Phosphoprotein Phosphatases / genetics*
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Annexin A5
  • ILKAP protein, human
  • Phosphoprotein Phosphatases

Grants and funding

This work was supported by the Dpt. Educacion, Universidades e Investigación of the Basque Government, project IT524-10; Diputación Foral de Bizkaia, project DIPE 08/19, the University of the Basque Country program UFI11/44 and a predoctoral fellowship from the Dept. Educación, Universidades e Investigación of the Basque Government to YA-B (BFI07.282). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.