Table 1.
Statistically significant hits from NGS of examined NMSC patients (n = 33)
| Chr: Gene | dbSNP ID location | allele | AF_OBS | AF_EUR (1000G) |
p-value* | OR, (95%CI), p-value** |
|---|---|---|---|---|---|---|
| Chr1: GRHL3 | rs55927162 intergenic (dist = 4635)*** |
T/A | 0.6667 | 0.21 |
P < 0.00001 (χ2) |
(A) OR = 7.53 (95%CI:4.38–12.94) P < 0.0001 |
| rs56256719 intergenic (dist = 4627)*** |
T/A | 0.697 | 0.24 | P < 0.00001 (χ2) |
(A) OR = 7.15 (95%CI:4.14–12.44) P < 0.0001 |
|
| rs151171718 intronic |
A/T | 0.0455 | 0.0013 | P < 0.05 (F) |
(T) OR = 36.05 (95%CI:3.69–351.64) P = 0.0020 |
|
| rs141193530 exon 11 (P455A) |
C/G | 0.0758 | 0.004 | P < 0.00001 (χ2) |
(G) OR = 20.63 (95%CI:4.81–88.38) P < 0.0001 |
|
| rs151326764 exon 16 (R573H) |
G/A | 0.0303 | 0.0026 | P < 0.01 (F) |
(A) OR = 11.81 (95%CI:1.63–85.26) P = 0.0143 |
|
| Chr8: GRHL2 | rs548650 intronic |
G/A | 0.0909 | 0.02 |
P = 0.000039 (χ2) |
(A) OR = 5.73 (95%CI:2.10–15.62) P = 0.0006 |
AF_OBS observed allele frequency, AF_EUR expected allele frequency for general European population (1000Genomes)
*p-value of association calculated with χ2-test (χ2) or Fisher’s exact test (F) for less frequent alleles
**OR odds ratio for haplotype, 95%CI 95% confidence interval, calculated according to [25]
***distance upstream from transcription start site