TABLE II.
Most significant associated regions based on subphenotype genotype association
| Significant region | P value | SNP | A1 | F_A | F_U | OR | Count SNPs |
Gene | Distance | Distance from exon |
Subphenotype |
|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:68153970-68161019 | 2.29 × 10−10 | rs1926283 | C | 0.2308 | 0.01807 | 16.3 | 3 | AK096081, AK124028 | 0 | 33408 | NRH |
| chr20:55901032-55985359 | 3.21 × 10−9 | rs8124301 | T | 0.4231 | 0.07631 | 8.877 | 5 | C20orf85 | 174030 | 174030 | Malabsorption |
| chr7:90245135-90245280 | 1.69 × 10−8 | rs975004 | G | 0.3333 | 0.03953 | 12.15 | 2 | KIAA0834, PFTK1 | 0 | 12544 | Lymphoma |
| chr5:156402979-156407976 | 3.62 × 10−8 | rs10038271 | T | 0.7222 | 0.1877 | 11.25 | 2 | HAVCR1 | 0 | 651 | Lymphoma |
| chrX:22422160-22428888 | 5.71 × 10−8 | rs5925651 | A | 0.3462 | 0.1386 | 3.291 | 3 | ZNF645 | 219665 | 219665 | Bronchiectasis |
| chr13:101641990-101673539 | 5.76 × 10−8 | rs1336698 | G | 0.65 | 0.168 | 9.197 | 6 | FGF14 | 0 | 69139 | LIP |
| chr1:25735669-25753653 | 6.02 × 10−8 | rs2065970 | G | 0.06553 | 0.2411 | 4.529 | 5 | LDLRAP1 | 0 | 0 | Low IgM |
| chr8:101728102-101728344 | 6.89 × 10−8 | rs7815950 | G | 0.2133 | 0.05615 | 4.559 | 2 | SNX31 | 0 | 2334 | OSAI |
| chr8:13834782-13842376 | 7.62 × 10−8 | rs2682665 | C | 0.1818 | 0.01394 | 15.71 | 3 | SGCZ | 149368 | 149368 | Low B cells |
| chrX:152295068-152303019 | 9.84 × 10−8 | rs5987017 | A | 0.2143 | 0.04773 | 5.442 | 4 | ZNF275 | 24829 | 24829 | Young age |
| chr12:2531014-2538733 | 1.21 × 10−7 | rs4765961 | C | 0.4737 | 0.142 | 5.439 | 3 | CACNA1C | 0 | 0 | GI Enteropathy |
| chrX:30733771-30736604 | 1.44 × 10−7 | rs11095197 | T | 0.1469 | 0.3431 | 3.034 | 2 | MAP3K7IP3 | 18876 | 18876 | Low IgA |
| chrX:53035117-53039801 | 1.90 × 10−7 | rs10127016 | G | 0.3833 | 0.125 | 4.351 | 2 | TMEM29 | 0 | 1409 | Lymphadenopathy |
| chr14: 23168471- 23169215 | 4.57 × 10−7 | rs222723 | C | 0.6154 | 0.1968 | 6.531 | 2 | DHRS2 | 0 | 0 | Cancer |
Known immunologic function genes are shown in boldface and underlined. Additional details are shown in Table E9 in this article’s Online Repository at www.jacionline.org.
GI, Gastrointestinal; NRH, nodular regenerative hyperplasia of the liver; OR, odds ratio; OSAI, organ-specific autoimmunity.