Table 1. Seven SNPs in APOE and TOMM40 (indicated by * of the SNP IDs) and 29 novel SNPs reaching exome-wide significance (p < 3.0 x 10−7, Bonferroni-corrected cutoff of p < 0.05 / # tests): Population minor allele frequency (MAF) in cases and controls, MAF in controls processed by Illumina or NimbleGen exome capture kit, and MAF in Non-Finish European (NFE) cohort of the ExAC database (http://exac.broadinstitute.org/).
Chr | Position | Ref | Alt | p-value (Model 1) | p-value (Model 2) | Gene | SNP ID | ADSP Cases MAF | ADSP Controls MAF | ADSP Controls MAF, Illumina | ADSP Controls MAF, NimbleGen | ExAC AAF, NFE |
---|---|---|---|---|---|---|---|---|---|---|---|---|
19 | 45411941 | T | C | 2.4E-185 | N/A | APOE | rs429358* | 0.2293 | 0.0701 | 0.074 | 0.067 | 0.1504 |
19 | 45396144 | C | T | 4.7E-103 | 0.7097 | TOMM40 | rs11556505* | 0.2023 | 0.0879 | 0.085 | 0.090 | 0.0875 |
19 | 45395714 | T | C | 2.4E-75 | 0.1439 | TOMM40 | rs157581* | 0.2766 | 0.1629 | 0.165 | 0.162 | 0.2326 |
19 | 45412079 | C | T | 1.8E-48 | N/A | APOE | rs7412* | 0.042 | 0.0988 | 0.116 | 0.087 | 0.0813 |
15 | 75913319 | T | G | 4.3E-45 | 2.7E-35 | SNUPN | rs1004285543 | 0.0825 | 0.0255 | 0.063 | 0.001 | NA |
17 | 25973604 | A | C | 2.6E-45 | 1.4E-34 | LGALS9 | rs761436847 | 0.0823 | 0.0256 | 0.056 | 0.006 | 0.0906 |
6 | 36979483 | T | G | 1.7E-39 | 1.6E-29 | FGD2 | rs769719224 | 0.0998 | 0.0404 | 0.072 | 0.019 | 0.0294 |
14 | 99976645 | A | C | 4.1E-36 | 7.5E-28 | CCNK | rs745936510 | 0.0899 | 0.0348 | 0.068 | 0.013 | 0.0713 |
13 | 114188430 | C | T | 4.7E-38 | 2.2E-27 | TMCO3 | rs77834374 | 0.1068 | 0.0459 | 0.080 | 0.024 | 0.1336 |
14 | 99976639 | G | C | 9.4E-36 | 3.7E-26 | CCNK | rs778243462 | 0.0932 | 0.0372 | 0.071 | 0.015 | 0.0808 |
17 | 25973598 | A | C | 4.3E-25 | 1.1E-21 | LGALS9 | rs760143837 | 0.0472 | 0.014 | 0.033 | 0.002 | 0.0243 |
14 | 77706020 | A | C | 9.7E-28 | 6.3E-21 | TMEM63C | rs774212969 | 0.0577 | 0.019 | 0.036 | 0.008 | 0.009 |
19 | 45397229 | G | A | 9.6E-21 | 0.3137 | TOMM40 | rs1160983* | 0.0173 | 0.0416 | 0.045 | 0.039 | 0.0718 |
11 | 117280516 | A | C | 7.9E-29 | 2.5E-20 | CEP164 | rs756182128 | 0.0748 | 0.0296 | 0.050 | 0.016 | 0.081 |
3 | 42739737 | T | G | 5.7E-25 | 9.7E-20 | HHATL | rs763168412 | 0.0539 | 0.0182 | 0.034 | 0.008 | 0.0919 |
3 | 48451952 | A | C | 3.2E-24 | 2.7E-19 | PLXNB1 | rs770786389 | 0.0562 | 0.02 | 0.037 | 0.009 | 0.0255 |
19 | 45397307 | C | T | 1.5E-18 | 0.928 | TOMM40 | rs112849259* | 0.0308 | 0.0107 | 0.005 | 0.014 | 0.0011 |
12 | 56622883 | A | C | 4.3E-24 | 1.2E-17 | NABP2 | rs757798976 | 0.0714 | 0.0301 | 0.054 | 0.014 | 0.0476 |
2 | 85662149 | A | C | 4.0E-21 | 4.3E-16 | SH2D6 | rs748669078 | 0.068 | 0.0309 | 0.044 | 0.022 | 0.0026 |
19 | 10946797 | G | C | 6.4E-21 | 2.5E-15 | TMED1 | rs767166604 | 0.0421 | 0.0128 | 0.029 | 0.002 | 0.0007 |
14 | 105932775 | G | C | 5.5E-21 | 3.1E-15 | MTA1 | rs782227993 | 0.0627 | 0.0259 | 0.047 | 0.012 | 0.0208 |
6 | 29429950 | A | C | 1.1E-19 | 3.6E-15 | OR2H1 | rs746691570 | 0.0402 | 0.0132 | 0.022 | 0.007 | 0.0207 |
11 | 117280522 | A | C | 6.5E-21 | 3.3E-14 | CEP164 | rs758240656 | 0.0529 | 0.0198 | 0.037 | 0.009 | 0.0768 |
2 | 85662154 | A | C | 4.9E-18 | 4.0E-14 | SH2D6 | rs760146451 | 0.0617 | 0.0288 | 0.040 | 0.021 | 0.0018 |
13 | 88330245 | A | C | 3.1E-17 | 1.1E-13 | SLITRK5 | rs773717935 | 0.0277 | 0.0065 | 0.014 | 0.002 | 3.1E-05 |
19 | 45409167 | C | G | 9.7E-13 | 0.3854 | APOE | rs440446* | 0.3332 | 0.3817 | 0.361 | 0.395 | 0.4346 |
19 | 10946802 | T | C | 1.2E-16 | 3.1E-12 | TMED1 | rs776909029 | 0.0366 | 0.0117 | 0.028 | 0.001 | 0.0009 |
9 | 34564740 | A | C | 6.5E-16 | 3.6E-12 | CNTFR | rs774039930 | 0.0516 | 0.0222 | 0.039 | 0.011 | 0.0008 |
3 | 108474687 | T | G | 1.4E-15 | 5.8E-12 | RETNLB | rs199707443 | 0.0328 | 0.0107 | 0.025 | 0.001 | 0.0493 |
19 | 43025485 | T | G | 2.6E-15 | 7.7E-12 | CEACAM1 | rs763190977 | 0.0921 | 0.0523 | 0.107 | 0.016 | 0.0026 |
3 | 31659462 | A | T | 4.8E-17 | 9.2E-12 | STT3B | rs74346226 | 0.0891 | 0.0514 | 0.076 | 0.035 | 0.131 |
12 | 109719316 | T | G | 9.1E-12 | 2.1E-10 | FOXN4 | rs760573591 | 0.0309 | 0.0115 | 0.025 | 0.003 | 1.5E-05 |
8 | 145112936 | T | C | 6.8E-14 | 5.0E-10 | OPLAH | rs781948612 | 0.0331 | 0.0114 | 0.026 | 0.002 | 0.0364 |
19 | 42799299 | T | C | 5.7E-12 | 1.4E-09 | CIC | rs745695673 | 0.019 | 0.0043 | 0.011 | 0.000 | 0 |
13 | 111164389 | A | C | 7.2E-12 | 1.6E-08 | COL4A2 | rs199702442 | 0.0517 | 0.0274 | 0.041 | 0.018 | 0.0285 |
22 | 30951295 | T | G | 2.0E-11 | 1.8E-08 | GAL3ST1 | rs762634521 | 0.0204 | 0.0056 | 0.013 | 0.001 | 0.028 |
Model 1 adjusted for sequencing center and the first four PCs underlying population substructure. Model 2 adjusted for sequencing center, the first 4 PCs, sex and APOE genotype.