SNP association results.

<p>The –log10 of the allelic p-values from 314 SNPs comparing 464 melanoma patients and 400 controls of Spanish origin at Phase I are represented. The chromosomal SNP distribution is shown. The SNP rs6854854 in <i>ANXA5</i> remained statistically significant after Bonferroni correction (p-<i>value</i> <0.00015).</p

Western blot analysis for Annexin A5 in melanoma cell lines and primary melanocytes.

<p>(A) Western blotting shows a decrease in Annexin A5 protein levels in melanoma cell lines with respect to primary melanocytes; γ-tubulin was used as the internal control. (B) Histogram showing the relative expression levels of Annexin A5 in melanoma cell lines and primary melanocytes.</p

Data of the SNPs analyzed in Phase II.

<p>Chrom. Chromosome; OR (95% CI) Odds ratio (95% confidence interval).</p

Polymorphisms and alleles identified in the promoter region of <i>ILKAP</i> gene in each cell line studied.

<p>The SNPs are numbered according to their appearance in the promoter region of <i>ILKAP</i> from the position Chr 2∶239,114,642 to the position Chr 2∶239,113,023 according to NCBI dbSNP 138. The ancestral allele is in black and the derived allele in bold.</p

Haplotypes in the promoter region of <i>ILKAP</i> gene in different populations obtained from 1000 Genomes Project.

<p>Although we detected three different haplotypes among the melanoma cell lines and the primary melanocytes studied (underlined haplotypes), a total of six different haplotypes have been reported worldwide. Each haplotype is represented with a circle, whose size is proportional to their frequency in the global population. The genealogic relationship suggests the existence of two different main lineages, showed in green and red circles.</p

Minor allele frequency for the SNPs found in the promoter region of <i>ILKAP</i> in different populations (Data from 1000 Genomes Phase I May 2011).

<p>Minor allele frequency for the SNPs found in the promoter region of <i>ILKAP</i> in different populations (Data from 1000 Genomes Phase I May 2011).</p

<i>ANXA5</i> and <i>ILKAP</i> mRNA expression in human melanoma cell lines and primary melanocytes.

<p>A) <i>ANXA5</i> relative expression levels. B) <i>ILKAP</i> relative expression levels. Results are expressed as mean relative expression fold ± standard deviation (SD) in the histograms, calculated on six replicates of each sample. The relative expression fold values are reported in boxes below histograms. The average expression of primary melanocytes is shown with a dashed line. Statistically significant differences of each melanoma cell line with respect to primary melanocytes: * p-<i>value</i> ≤0.05; ** p-<i>value</i> ≤0.01.</p

SNPs associated with Malignant Melanoma p<0.05 in Spanish population analyzed in Phase I.

<p>Chrom. Chromosome; MA. Minor Allele; MAF. Minor Allele Frequency; OR (95% CI). Odds ratio (95% confidence interval).</p