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. 2016 Feb 1;7(7):7381–7389. doi: 10.18632/oncotarget.7121

Table 2. Most significant EOC risk associations by selection criteria outside of eleven known susceptibility regions.

Pilot WGS Study Case-control study data (13 sites)
Selection Criteria Variant Chr. Position (hg19) Location EOC
MAF
1000 GP
MAF
Histology Case
MAF
Control
MAF
N case,
N control
OR (95%CI) P value
WGS EOC+ rs138643956 10 79367857 Intron of KCNMA1 0.053 0.000 HGSC 0.004 0.001 3035, 5637 3.68 (1.79 - 7.55) 1.85 × 10−4
WGS EOC↑ rs117841616 20 57855211 20kb 5′ of EDN3 0.079 0.006 All 0.008 0.005 4973, 5634 1.93 (1.36 - 2.74) 2.06 × 10−4
WGS EOC↓ rs240783 6 100968737 Intron of ASCC3 0.184 0.494 HGSC 0.400 0.428 2956, 5518 0.89 (0.84 - 0.95) 7.90 × 10−4
WGS EOC− rs9380516 6 35502202 10kb 5′ of RP3-340B19.3 0.000 0.155 HGSC 0.147 0.171 3027, 5633 0.83 (0.76 - 0.91) 6.44 × 10−5
NF-κB rs10143322 14 91556577 24kb 5′ of C14orf159 n.a. n.a. All 0.220 0.246 4562, 5634 0.87 (0.82 - 0.93) 2.99 × 10−5
NF-κB rs6092485 20 56045014 26kb 3′ of CTCFL n.a. n.a. HGSC 0.335 0.311 3019, 5625 1.13 (1.05 - 1.21) 6.77 × 10−4
Endometrioid GWAS rs9264042 6 31196801 25kb 3′ of HCG27 n.a. n.a. All 0.125 0.107 4440, 5505 1.17 (1.07 - 1.28) 4.71 × 10−4
Endometrioid GWAS rs2638653 8 18666210 Intron of PSD3 n.a. n.a. EC 0.409 0.362 832, 5619 1.23 (1.11 - 1.37) 1.28 × 10−4

WGS, whole-genome sequencing; EOC, epithelial ovarian cancer; 1000 GP, 1000 Genomes Project; GWAS, genome wide association study; Chr, chromosome; MAF, minor allele frequency; OR, odds ratio; CI, confidence interval; HGSC, high grade serous carcinoma; n.a., not applicable. WGS EOC+ variant selection criteria: MAF> 0% in serous EOC cases, monomorphic in 1000 GP European individuals; WGS EOC↑ variant selection criteria: polymorphic in cases and 1000 GP, MAF greater in WGS patients; WGS EOC↓ variant selection criteria: polymorphic in cases and 1000 GP, MAF greater in 1000 GP; WGS 1000 EOC− variant selection criteria: monomorphic in cases, MAF> 0% in 1000 GP.