Skip to main content

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;