Statistics
| Female Case | Female Control | % Female |
|---|---|---|
| 147 | 249710 | 65% |
| Male Case | Male Control | % Male |
|---|---|---|
| 78 | 210259 | 35% |
Phenotype Definition
An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. [HPO:probinson, PMID:17698200]
Phenotype Comment
Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling.
Top SNP Information
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr7:31569198 | rs77981275 | ITPRID1 | T>G | 20 | 10779 | 29.05 | 7.039e-08 | 3.246 |
| chr3:100553071 | rs61415733 | ABI3BP | T>C | 27 | 17464 | 26.96 | 2.078e-07 | 2.727 |
| chr6:163723875 | rs62428042 | PACRG | A>G | 69 | 65376 | 26.63 | 2.464e-07 | 1.993 |
| chr4:53414666 | rs10034992 | - | A>G | 59 | 170095 | 25.26 | 5.009e-07 | 0.4908 |
| chr9:91590466 | rs78459855 | - | A>G | 20 | 11572 | 25.25 | 5.048e-07 | 3.019 |
| chr14:75653334 | rs74699347 | - | G>A | 23 | 14376 | 24.67 | 6.791e-07 | 2.802 |
| chr21:33439644 | rs117718349 | - | C>T | 23 | 14434 | 24.59 | 7.11e-07 | 2.797 |
| chr23:54624755 | rs143268188 | GNL3L | A>G | 24 | 15639 | 23.8 | 1.07e-06 | 2.706 |
| chr14:43787190 | rs79264571 | - | C>G | 13 | 6171 | 23.7 | 1.128e-06 | 3.629 |
| chr10:71471283 | rs80069072 | - | T>C | 19 | 11109 | 23.43 | 1.295e-06 | 2.981 |
| chr23:3108751 | rs1194776 | - | G>A | 63 | 60200 | 23.27 | 1.408e-06 | 1.95 |
| chr16:62114622 | rs117164057 | - | A>G | 19 | 11273 | 23.02 | 1.605e-06 | 2.953 |
| chr8:141545966 | rs77052480 | AGO2 | C>T | 15 | 7872 | 22.8 | 1.793e-06 | 3.296 |
| chr12:128755198 | rs74774905 | TMEM132C | G>A | 31 | 22955 | 22.69 | 1.903e-06 | 2.395 |
| chr20:20810699 | rs6075718 | - | C>T | 16 | 8784 | 22.35 | 2.27e-06 | 3.157 |
| chr6:156056473 | rs118138549 | - | C>T | 15 | 7990 | 22.21 | 2.44e-06 | 3.25 |
| chr1:1078583 | rs12737205 | - | C>T | 37 | 29669 | 21.93 | 2.821e-06 | 2.224 |
| chr14:44262187 | rs17212533 | - | A>G | 18 | 10554 | 21.93 | 2.828e-06 | 2.956 |
| chr3:130718472 | rs16835513 | ATP2C1 | G>A | 78 | 80163 | 21.83 | 2.986e-06 | 1.823 |
| chr14:75339149 | rs117801440 | PROX2 | T>C | 23 | 15218 | 21.8 | 3.033e-06 | 2.646 |
| chr6:20432729 | rs874448 | E2F3 | G>A | 11 | 4117 | 30.45 | 3.419e-08 | 4.67 |
| chr6:163723875 | rs62428042 | PACRG | A>G | 67 | 62503 | 28.78 | 8.103e-08 | 2.076 |
| chr7:104111048 | rs59299745 | LHFPL3 | C>G | 10 | 3748 | 27.6 | 1.491e-07 | 4.65 |
| chr7:31569198 | rs77981275 | ITPRID1 | T>G | 19 | 10648 | 26.3 | 2.918e-07 | 3.167 |
| chr14:75653334 | rs74699347 | - | G>A | 22 | 13580 | 25.0 | 5.721e-07 | 2.884 |
| chr10:71471283 | rs80069072 | - | T>C | 19 | 10999 | 24.39 | 7.864e-07 | 3.049 |
| chr23:3108751 | rs1194776 | - | G>A | 62 | 59342 | 24.13 | 8.995e-07 | 1.993 |
| chr19:47036828 | rs10418127 | PPP5D1 | C>A | 108 | 121776 | 24.03 | 9.468e-07 | 1.795 |
| chr3:100553071 | rs61415733 | ABI3BP | T>C | 22 | 13852 | 23.94 | 9.953e-07 | 2.824 |
| chr21:33439644 | rs117718349 | - | C>T | 22 | 13953 | 23.72 | 1.116e-06 | 2.811 |
| chr6:156056473 | rs118138549 | - | C>T | 15 | 7918 | 23.24 | 1.431e-06 | 3.336 |
| chr9:91590466 | rs78459855 | - | A>G | 19 | 11346 | 23.15 | 1.498e-06 | 2.968 |
| chr1:119890100 | rs12044332 | - | G>T | 30 | 22142 | 23.07 | 1.56e-06 | 2.45 |
| chr7:155035346 | rs56147424 | - | C>A | 36 | 29002 | 22.55 | 2.042e-06 | 2.276 |
| chr16:47018161 | rs76034229 | - | T>C | 39 | 32326 | 22.29 | 2.345e-06 | 2.207 |
| chr23:54624755 | rs143268188 | GNL3L | A>G | 23 | 15379 | 22.26 | 2.381e-06 | 2.679 |
| chr22:43752423 | rs78588970 | - | G>T | 41 | 35212 | 21.84 | 2.962e-06 | 2.158 |
| chr1:68587184 | rs113340258 | WLS | G>A | 15 | 8271 | 21.64 | 3.296e-06 | 3.212 |
| chr17:48628160 | rs62621401 | SPATA20 | A>G | 14 | 7426 | 21.46 | 3.61e-06 | 3.311 |
| chr18:10583246 | rs76420134 | - | C>T | 27 | 19655 | 21.35 | 3.836e-06 | 2.466 |
| Location | SNP | Gene | Ref>Alt | Alt in Case | Alt in Control | Chi-square | P-value | Odds ratio |
|---|---|---|---|---|---|---|---|---|
| chr4:179369674 | rs77470037 | - | C>T | 23 | 18600 | 35.42 | 2.66e-09 | 3.49 |
| chr8:139886561 | rs116866788 | COL22A1 | C>T | 10 | 4851 | 34.51 | 4.239e-09 | 5.484 |
| chr2:220081416 | rs57467915 | ABCB6 | G>A | 11 | 6306 | 29.53 | 5.498e-08 | 4.654 |
| chr2:220165527 | rs79047930 | PTPRN | C>T | 11 | 6517 | 28.0 | 1.214e-07 | 4.497 |
| chr4:13547295 | rs115947622 | - | G>C | 14 | 9637 | 27.92 | 1.264e-07 | 3.914 |
| chr4:105469120 | rs114800680 | - | C>T | 13 | 8543 | 27.8 | 1.347e-07 | 4.066 |
| chr23:130416480 | rs139140137 | IGSF1 | A>C | 7 | 3093 | 27.66 | 1.446e-07 | 6.14 |
| chr2:210657951 | rs113573100 | UNC80 | A>G | 10 | 5633 | 27.48 | 1.59e-07 | 4.706 |
| chr4:13623424 | rs76818873 | BOD1L1 | G>T | 14 | 9788 | 27.19 | 1.848e-07 | 3.853 |
| chr6:147892127 | rs79180144 | SAMD5 | A>G | 11 | 6734 | 27.07 | 1.966e-07 | 4.404 |
| chr1:12176031 | rs11569895 | TNFRSF8 | G>A | 10 | 5820 | 26.17 | 3.134e-07 | 4.56 |
| chr2:163188445 | rs4664465 | GCA | C>G | 9 | 4901 | 26.06 | 3.304e-07 | 4.851 |
| chr23:130519991 | rs138096609 | IGSF1 | A>G | 7 | 3239 | 25.96 | 3.493e-07 | 5.867 |
| chr5:153885991 | rs114723148 | - | G>A | 12 | 7842 | 25.8 | 3.785e-07 | 4.065 |
| chr2:177710563 | rs1866133 | - | T>G | 25 | 24699 | 25.24 | 5.055e-07 | 2.824 |
| chr4:162534328 | rs114666798 | FSTL5 | G>A | 10 | 5981 | 25.06 | 5.567e-07 | 4.436 |
| chr11:45088590 | rs117185070 | - | A>C | 9 | 5038 | 24.87 | 6.147e-07 | 4.704 |
| chr13:52625820 | rs78202619 | NEK5 | C>T | 9 | 5102 | 24.87 | 6.134e-07 | 4.707 |
| chr11:72257930 | rs78609827 | - | G>A | 10 | 6048 | 24.75 | 6.529e-07 | 4.405 |
| chr4:179286721 | rs7666286 | - | G>A | 20 | 17881 | 24.67 | 6.796e-07 | 3.067 |
| chr4:179369674 | rs77470037 | - | C>T | 22 | 17741 | 38.27 | 6.164e-10 | 3.766 |
| chr2:220165527 | rs79047930 | PTPRN | C>T | 11 | 6101 | 34.09 | 5.261e-09 | 5.146 |
| chr2:163071726 | rs16846386 | FAP | G>A | 9 | 4390 | 33.69 | 6.447e-09 | 5.812 |
| chr2:220081416 | rs57467915 | ABCB6 | G>A | 11 | 6221 | 33.14 | 8.555e-09 | 5.049 |
| chr4:13547295 | rs115947622 | - | G>C | 14 | 9388 | 32.37 | 1.276e-08 | 4.312 |
| chr4:13623424 | rs76818873 | BOD1L1 | G>T | 14 | 9531 | 31.58 | 1.918e-08 | 4.246 |
| chr4:13558841 | rs28556697 | - | T>C | 14 | 9572 | 31.32 | 2.192e-08 | 4.224 |
| chr2:210657951 | rs113573100 | UNC80 | A>G | 10 | 5523 | 31.09 | 2.458e-08 | 5.134 |
| chr23:130416480 | rs139140137 | IGSF1 | A>C | 7 | 3037 | 30.89 | 2.724e-08 | 6.711 |
| chr5:153885991 | rs114723148 | - | G>A | 12 | 7736 | 29.2 | 6.541e-08 | 4.413 |
| chr23:130519991 | rs138096609 | IGSF1 | A>G | 7 | 3183 | 29.01 | 7.207e-08 | 6.406 |
| chr4:179286721 | rs7666286 | - | G>A | 19 | 16412 | 28.34 | 1.02e-07 | 3.407 |
| chr11:45088590 | rs117185070 | - | A>C | 9 | 4945 | 28.09 | 1.16e-07 | 5.123 |
| chr2:177779606 | rs16864713 | - | A>G | 23 | 22265 | 27.67 | 1.439e-07 | 3.089 |
| chr2:163188445 | rs4664465 | GCA | C>G | 8 | 4212 | 26.68 | 2.4e-07 | 5.335 |
| chr2:163080982 | rs16846391 | FAP | A>G | 8 | 4211 | 26.65 | 2.444e-07 | 5.33 |
| chr2:163107401 | rs16822684 | - | G>A | 8 | 4277 | 26.53 | 2.591e-07 | 5.317 |
| chr2:177710563 | rs1866133 | - | T>G | 23 | 22733 | 26.48 | 2.669e-07 | 3.02 |
| chr1:12176031 | rs11569895 | TNFRSF8 | G>A | 9 | 5296 | 25.43 | 4.579e-07 | 4.795 |
| chr4:105469120 | rs114800680 | - | C>T | 12 | 8439 | 25.35 | 4.783e-07 | 4.044 |
Associated Diseases ⓘ
| ID | Name | Top Correlation |
|---|---|---|
| ICD: H050 | Acute inflammation of orbit | 4/20 |
| ID | Name | Top Correlation |
|---|