TABLE III.
Most significant CVID-associated regions based on CNV association: deletions
| CNV deletion | Count SNPs |
Distance from exon |
P value, deletion |
Cases, deletion |
Control subjects, deletion |
OR | Gene | MSSM | Oxford | USF | CHOP |
|---|---|---|---|---|---|---|---|---|---|---|---|
| chr11:85365857-85381622 | 5 | 0 | .01 | 2 | 0 | Infinity | PICALM, PICALM variant protein | 0 | 2 | 0 | 0 |
| chr20:57735790-57741780 | 6 | 5902 | .026 | 3 | 4 | 6.73 | PHACTR3 | 2 | 1 | 0 | 0 |
| chr22:17396663-18417315 | 270 | 0 | .029 | 2 | 1 | 17.90 | ARVCF, COMT, TBX1, others | 2 | 0 | 0 | 0 |
| chr4:10256682-10264316 | 4 | 2915 | .029 | 2 | 1 | 17.90 | CLNK | 0 | 1 | 1 | 0 |
| chr10:46003146-46042543 | 8 | 0 | .029 | 2 | 1 | 17.90 | DKFZp566K0524, PTPN20A, PTPN20B | 2 | 0 | 0 | 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.