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Table 3 Allelic and genotypic frequencies of TYR rs1126809, HERC2 rs1129038, SLC24A5 rs1426654, SLC45A2 rs16891982 variants

From: Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

Gene Chr. Location Positiona SNP MAF Genotypes Cases
n (%)
Controls
n (%)
P
TYR 11 c.1205G > A Exonic (p.Arg402Gln) rs1126809 A = 0.22 GG 72 (46.7) 82 (53.2) 0.6602
GA 45 (48.9) 47 (51.1)
AA 3 (33.3) 6 (66.6)
HERC2 15 c.13272 + 874C > T Intronic (3’UTR) rs1129038 G = 0.45 AA 51 (42.5) 35 (25.9) 0.0163
GA 45 (37.5) 62 (45.9)
GG 24 (20) 38 (28.1)
SLC24A5 15 c.331A > G Exonic (p.Ala111Thr) rs1426654 G = 0.06 AA 117 (97.5) 111 (82.2) < 0.0012
GA 2 (1.7) 23 (17)
GG 1 (0.8) 1 (0.7)
SLC45A2 5 c.1122C > G Exonic (p.Phe374Leu) rs16891982 C = 0.14 GG 103 (85.8) 93 (68.9) 0.0022
CG 16 (13.3) 32 (23.7)
CC 1 (0.8) 10 (7.4)
  1. Abbreviations: Chr chromossome, SNP single nucleotide polymorphism, MAF minor allelic frequency
  2. aPosition in genome and protein change according to dbSNP
  3. 2Fisher chi-square for associating comparing the distribuition of categorical variables in cases and controls subjects. P values are two-sided;
  4. 3Pearson chi-square for associating comparing the distribuition of categorical variables in cases and controls subjects. P values are two-sided;
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