Table 2.
Association of common germline Copy Number Variation Regions (CNVRs) with EOC susceptibility
| Merged CNVR |
SNP-level CNVR |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Array (N cases) | Locus | CNV Type | Gene | CNVR (KB)a | N (%) Case/Control | P-value | OR (95% CI) | Tag SNP | Total SNPs | P-value b | OR (95% CI) |
| 610k (n=1368) | 19q13.2 | Del | CYP2A7 | chr19:41341589-41433931 (92) | 49 (4)/29 (2) | 0.007 | 1.90 (1.19-3.03) | rs2545754 | 9 | 0.006 | 2.03 (1.22-3.36) |
| 19q13.42 | Dup | LILRA6 | chr19:54731679-54845802 (114) | 39 (3)/17 (1) | 0.001 | 2.57 (1.44-4.57) | rs11672654 | 11 | 0.01 | 5.87 (1.53-22.57) | |
| 2.5M (n=449) | 2q34 | Del | ERBB4 | chr2:213187034-213191389 (4) | 8 (2)/18 (5) | 0.0095 | 0.33 (0.14-0.76) | kgp5655115 | 12 | 0.008 | 0.33 (0.15-0.75) |
a
CNVR was defined by overlapping CNV segments across subjects. Coordinates are mapped to human genome build 37 (hg19). P-values are from logistic regression adjusted for the first principal component.
b
CNVR was defined as region with significant SNP-level statistics and p-value reported is from fisher exact test comparing deletion/no deletion or duplication/no duplication. All epithelial OC vs. controls reported.