Locus: | Deletion 13q32.1 | Â | Â | Â | Â | Â | Duplication 7p22.1 | Â | Â | Â | Â | Â | Duplication 8q24.3 | Â | Â | Â | Â | Â |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Breakpoints: | chr13:94,781,525-94,797,285 | Â | Â | Â | Â | Â | chr7:5,786,323-5,905,210 | Â | Â | Â | Â | Â | chr8:140,390,975-140,524,875 | Â | Â | Â | Â | Â |
Previously reported: | DGV(Variation_49277) | Â | Â | Â | Â | Â | DGV(Variation_53516) | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â |
CNV size: | 15.8Â kb | Â | Â | Â | Â | Â | 119Â kb | Â | Â | Â | Â | Â | 134Â kb | Â | Â | Â | Â | Â |
Covered or close genes: | ABCC4, CLDN10 | ZNF815, OCM, RNF216, RSPH10B | KCNK9 | |||||||||||||||
 | cases | controls | P-value | OR | cases | controls | P-value | OR | cases | controls | P-value | OR | ||||||
 | wt | cc | wt | cc |  | (95 % CI) | wt | cc | wt | cc |  | (95 % CI) | wt | cc | wt | cc |  | (95 % CI) |
Germany (discovery) Affy6.0 | 897 | 5 | 1563 | 1 | 0.027 | 8.71 | 899 | 3 | 1564 | 0 | 0.043 | Inf | 898 | 4 | 1564 | 0 | 0.018 | Inf |
 |  |  |  |  |  | (0.97 - 411) |  |  |  |  |  | (0.72 - Inf) | 0.45 |  | 0.00 |  |  | (1.15-Inf) |
Germany (replication) TaqMan | 445 | 6 | 1272 | 2 | 0.005 | 8.56 | 453 | 0 | 1279 | 0 | >0.05 | Â | 452 | 1 | 1377 | 0 | >0.05 | Â |
 |  |  |  |  |  | (1.52-87.2) |  |  |  |  |  |  |  |  |  |  |  |  |
WTCCC2 (UK) Affy6.0 | 2391 | 5 | 4880 | 6 | >0.05 | Â | 2393 | 3 | 4886 | 0 | 0.061 | Â | 2391 | 5 | 4884 | 2 | 0.058 | 3.40 |
 |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  |  | (0.66 - 21.9) |
Norwegian Affy6.0 | 251 | 1 | 272 | 0 | 0.36 | Â | 252 | 0 | 272 | 0 | >0.05 | Â | 252 | 0 | 272 | 0 | >0.05 | Â |
Lithuanian TaqMan | 442 | 2 | 1131 | 2 | >0.05 | Â | 438 | 0 | 1139 | 1 | >0.05 | Â | 445 | 0 | 1134 | 0 | >0.05 | Â |
in silico controls European-ancestry combined results | – | – | 4501 | 5 | ---- |  | – | – | 5788 | 1 | ----- |  | – | – | 6724 | 3 | ----- |  |
 | 4426 | 19 | 13619 | 16 | 1.2 × 10 −3 | 2.64 | 4435 | 6 | 14928 | 2 | 2.7 × 10 −3 | 8.41 | 4438 | 10 | 15955 | 5 | 8.7 × 10 - 4 | 4.62 |
 | 0.43 % |  | 0.11 % |  |  | (1.3–5.2) | 0.13 % |  | 0.01 % |  |  | (1.4–88) | 0.22 % |  | 0.03 % |  |  | (1.5–15) |
Bonferroni corrected |  |  |  |  | 3.6 × 10 −3 |  |  |  |  |  | 8.1 × 10 −3 |  |  |  |  |  | 2.6 × 10 −3 |  |
MARV |  |  |  |  | 4.3 × 10 −3 |  |  |  |  |  | 6.2 × 10 −3 |  |  |  |  |  | 2.8 × 10 −3 |  |