TABLE IV.
Most significant CVID-associated regions based on CNV association: duplications
| CNV duplication | Count SNPs |
Distance from exon |
P value, duplication |
Cases, duplication |
Control subjects, duplication |
OR | Gene | MSSM | Oxford | USF | CHOP |
|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:148396730-148433180 | 6 | 0 | 8.66 × 10−16 | 15 | 0 | Infinity | ACVR2A, ORC4L | 10 | 5 | 0 | 0 |
| chr15:35053039-35063531 | 6 | 23146 | 5.72 × 10−13 | 19 | 10 | 17.93 | MEIS2 | 17 | 2 | 0 | 0 |
| chr7:91789778-91801963 | 4 | 0 | 1.20 × 10−9 | 12 | 4 | 27.71 | ANKIB1 | 9 | 3 | 0 | 0 |
| chr2:163316298-163316595 | 3 | 17100 | 1.00 × 10−7 | 7 | 0 | Infinity | KCNH7 | 6 | 1 | 0 | 0 |
| chr7:87180702-87191931 | 4 | 202 | 7.41 × 10−7 | 7 | 1 | 63.67 | RPIB9 | 5 | 2 | 0 | 0 |
| chr19:9256584-9277749 | 4 | 0 | 0.001 | 3 | 0 | Infinity | ZNF699 | 2 | 0 | 1 | 0 |
| chr4:39190766-39201960 | 6 | 0 | 0.004 | 3 | 1 | 26.93 | UGDH | 1 | 2 | 0 | 0 |
| chr7:18903915-18905725 | 4 | 23171 | 0.009 | 3 | 2 | 13.46 | HDAC9 | 1 | 2 | 0 | 0 |
| chr5:170531269-170536993 | 4 | 374 | 0.01 | 2 | 0 | Infinity | DKFZp666P032, RANBP17 | 1 | 1 | 0 | 0 |
| chr7:34685030-34686172 | 4 | 4517 | 0.01 | 2 | 0 | Infinity | AAA1, NPSR1 | 1 | 1 | 0 | 0 |
| chr1:170400944-170403742 | 4 | 26274 | 0.01 | 2 | 0 | Infinity | DNM3 | 0 | 1 | 1 | 0 |
Known immunologic function genes are shown in boldface and underlined. Additional details are available in Table E10 in this article’s Online Repository at www.jacionline.org.
CHOP, Children’s Hospital of Philadelphia; MSSM, Mount Sinai School of Medicine; OR, odds ratio; USF, University of South Florida.