Table 2 Summary of the most significant associations of immunomodulatory ieQTLs with MPMs when compared to SPMs and/or disease-free controls, under the additive model (adjusted for age at pathological diagnosis, sex (male vs. female), and Ashkenazi Jewish status (yes vs. no)).

From: Immunomodulatory germline variation associated with the development of multiple primary melanoma (MPM)

SNP

Gene

SNP Position (GRCh38.p12)

Alternate Allele in the Population

Alternate allele frequency MPM patients

Alternate allele frequency SPM patients

Alternate allele frequency disease free controls

MPM vs SPM

MPM vs disease-free controls*

OR (95% C.I.)

p-value

OR (95% C.I.)

p-value

rs2071304

SPI1

chr11:47350826

G

0.25

0.35

0.32

0.60 (0.45, 0.81)

0.0007

0.59 (0.41, 0.83)

0.0025

rs665241

FYB

chr5:39266460

C

0.4

0.47

0.42

0.71 (0.55, 0.93)

0.0111

0.89 (0.63, 1.13)

0.2141

rs7720838

PTGER4

chr5:40486794

G

0.38

0.42

0.43

1.23 (0.94, 1.60)

0.1313

0.66 (0.49, 0.89)

0.0058

rs13331952

CKLF

chr16:66549715

C

0.09

0.12

0.13

0.76 (0.50, 1.17)

0.2177

0.59 (0.34, 0.93)

0.0231

rs9895554

SKAP1

chr17:48046280

C

0.1

0.09

0.07

1.15 (0.74, 1.77)

0.5355

1.69 (1.02, 2.63)

0.0389

rs9863627

PAK2

chr3:196808928

G

0.09

0.1

0.15

1.15 (0.73, 1.82)

0.5358

0.54 (0.33, 0.87)

0.0111

rs2276645

ZAP70

chr2:97713589

T

0.31

0.34

0.44

0.95 (0.71, 1.28)

0.7496

0.69 (0.49, 0.83)

0.0083

  1. *Disease-free controls were ascertained at MD Anderson (phs000187.v1.p1)14.
  2. Results passing the adjustments for multiple testing are highlighted in bold.