Table 1.
Significantly associated regions detected by CNstream and PennCNV
| REGIONS | CHROM | BASEPAIR | DELS CASES | DELS CONTROLS | OR | ||
|---|---|---|---|---|---|---|---|
| N | % | n | % | ||||
| CNSTREAM SIGNIFICANT SEGMENTS | |||||||
| 8p22 | 8 | 15435527..15453141 | 24 | 7.2 | 4 | 2.6 | 2.9 |
| 8 | 15439515..15455979 | 33 | 9.9 | 5 | 3.3 | 3.2 | |
| 8 | 15447669..15464497 | 33 | 9.9 | 5 | 3.3 | 3.2 | |
| 8 | 15450330..15467035 | 24 | 7.2 | 4 | 2.6 | 2.9 | |
| 19p12 | 19 | 20368239..20449621 | 51 | 15.2 | 11 | 7.2 | 2.3 |
| 19 | 20385941..20473895 | 54 | 16.1 | 11 | 7.2 | 2.5 | |
| 19 | 20423788..20520617 | 54 | 16.1 | 11 | 7.2 | 2.5 | |
| 19 | 20439390..20522325 | 40 | 11.9 | 5 | 3.3 | 4 | |
| PENNCNV SIGNIFICANT PROBES | |||||||
| 8q24.3 | 8 | 145079175 | 30 | 9.0 | 0 | 0.0 | Inf |
| 8 | 145083192 | 30 | 9.0 | 0 | 0.0 | Inf | |
| 8 | 145083193 | 29 | 8.7 | 0 | 0.0 | Inf | |
| 8 | 145090342 | 29 | 8.7 | 0 | 0.0 | Inf | |
| 11p15.5 | 11 | 1073364 | 16 | 4.8 | 2 | 1.3 | 3.8 |
| 11 | 1074362 | 16 | 4.8 | 2 | 1.3 | 3.8 | |
| 11 | 1074363 | 15 | 4.5 | 2 | 1.3 | 3.5 | |
| 11 | 1086494 | 15 | 4.5 | 2 | 1.3 | 3.5 | |
| 19p13.3 | 19 | 4020119 | 15 | 4.5 | 1 | 0.7 | 7.1 |
| 19 | 4028096 | 15 | 4.5 | 1 | 0.7 | 7.1 | |
| 19 | 4037807 | 15 | 4.5 | 1 | 0.7 | 7.1 | |
| 19 | 4041113 | 15 | 4.5 | 1 | 0.7 | 7.1 | |
Number and percentage of cases and controls in each of the associated CNP regions detected by CNstream and PennCNV. In bold, the candidate regions chosen for quantitative PCR validation.