Table II.
The 77 SNPs significantly (P<1.21×10−6) associated with ischemic stroke in the exome-wide association study.
| Gene | dbSNP | Nucleotide (amino acid) substitutiona | Chromosome: position | MAF (%) | P-value (allele) | Allele OR | 95% CI |
|---|---|---|---|---|---|---|---|
| TTLL5 | rs2833270 | C/T | 21: 3115036 | 4.1 | 5.45×10−112 | 1.05 | 0.87–1.27 |
| rs605066 | C/T | 6: 139508529 | 25.6 | 1.93×10−89 | 1.02 | 0.94–1.11 | |
| rs146036604 | A/C (L879F) | 14: 75783181 | 1.4 | 1.09×10−73 | 0.90 | 0.65–1.25 | |
| rs12615742 | T/C | 2: 37768584 | 47.3 | 3.80×10−62 | 1.04 | 0.96–1.12 | |
| TCEB3B | rs2010834 | A/C (F254C) | 18: 47034504 | 24.5 | 2.40×10−61 | 1.02 | 0.94–1.11 |
| TCF19 | rs3130933 | G/A | 6: 31164308 | 5.2 | 1.05×10−53 | 1.18 | 1.00–1.39 |
| GABRB3 | rs3212335 | G/A | 15: 26766994 | 38.9 | 8.21×10−53 | 1.02 | 0.94–1.11 |
| NRXN3 | rs6574433 | G/A | 14: 78319816 | 26.5 | 6.14×10−49 | 0.98 | 0.90–1.06 |
| UBASH3A | rs11203203 | G/A | 21: 42416077 | 3.9 | 7.70×10−44 | 1.13 | 0.93–1.37 |
| TBC1D32 | rs79221470 | T/A (C505S) | 6: 121281639 | 17.8 | 5.10×10−37 | 1.01 | 0.92–1.11 |
| DBT | rs140308307 | T/C (N13D) | 1: 100249784 | 0.3 | 2.69×10−36 | 1.59 | 0.86–2.94 |
| IL20RA | rs191996643 | T/C (I43V) | 6: 137017065 | 0.8 | 2.63×10−31 | 0.74 | 0.47–1.18 |
| MMP28 | rs117651561 | G/A | 17: 35766644 | 13.6 | 1.80×10−29 | 1.01 | 0.90–1.12 |
| C15orf57 | rs3803354 | T/C | 15: 40564790 | 8.9 | 3.88×10−27 | 1.11 | 0.98–1.27 |
| TMPRSS7 | rs147783135 | C/T (R692*) | 3: 112081004 | 0.8 | 3.41×10−26 | 0.54 | 0.31–0.94 |
| rs7752978 | A/G | 6: 114869897 | 47.4 | 1.29×10−24 | 1.00 | 0.92–1.08 | |
| HMGCS2 | rs181428774 | G/T (L59M) | 1: 119764556 | 0.3 | 1.56×10−24 | 0.49 | 0.21–1.14 |
| DPF3 | rs757572 | T/C | 14: 72665321 | 41.2 | 1.28×10−21 | 1.07 | 0.99–1.15 |
| SLC6A4 | rs56316081 | T/C (I108V) | 17: 30221637 | 0.1 | 2.54×10−21 | ND | ND |
| OSGEPL1 | rs75321854 | C/T (A98T) | 2: 189755490 | 4.8 | 2.31×10−20 | 1.10 | 0.93–1.31 |
| S100A3 | rs36022742 | C/T (R3K) | 1: 153548478 | 1.6 | 4.16×10−20 | 0.77 | 0.55–1.09 |
| ALMS1 | rs3820700 | G/A (S2576N) | 2: 73489683 | 26.1 | 6.70×10−20 | 0.98 | 0.90–1.08 |
| OR2D2 | rs1965209 | A/G (S148P) | 11: 6892059 | 12.2 | 9.24×10−20 | 1.11 | 0.99–1.24 |
| rs9494145 | T/C | 6: 135111414 | 31.8 | 9.77×10−20 | 0.96 | 0.88–1.04 | |
| AXDND1 | rs41267592 | C/T (T627M) | 1: 179468524 | 0.3 | 1.92×10−19 | 0.61 | 0.28–1.33 |
| SCMH1 | rs182666831 | A/T (S48C) | 1: 41151649 | 0.1 | 5.23×10−19 | 0.58 | 0.18–1.92 |
| ELMO1 | rs11984075 | A/G | 7: 37397251 | 1.1 | 3.61×10−18 | 0.78 | 0.53–1.16 |
| OTOL1 | rs12633334 | G/A | 3: 161452823 | 45.1 | 2.34×10−17 | 0.97 | 0.89–1.04 |
| rs5026743 | T/G | 6: 32472187 | 29.7 | 4.27×10−17 | 1.12 | 1.03–1.22 | |
| MUC16 | rs12459532 | G/A (P9422L) | 19: 8948505 | 1.8 | 4.29×10−17 | 1.42 | 1.10–1.85 |
| TMPRSS6 | rs2235321 | G/A | 22: 37066886 | 43.7 | 7.08×10−17 | 1.09 | 1.01–1.18 |
| rs11624336 | G/A | 14: 96727175 | 14.9 | 2.40×10−16 | 0.99 | 0.88–1.10 | |
| KIAA1324 | rs1052878 | C/T (P922L) | 1: 109202996 | 4.9 | 6.66×10−16 | 1.05 | 0.89–1.24 |
| MMP28 | rs79742527 | G/A | 17: 35766662 | 13.6 | 1.04×10−15 | 1.00 | 0.89–1.11 |
| SERINC1 | rs11964202 | G/A | 6: 122444993 | 0.6 | 1.64×10−15 | 0.87 | 0.51–1.47 |
| KANK4 | rs2258470 | C/T (R822H) | 1: 62263166 | 19.3 | 8.84×10−15 | 1.13 | 1.03–1.24 |
| PRR22 | rs201451364 | C/T (R78H) | 19: 5784014 | 0.1 | 1.42×10−14 | 1.54 | 0.57–4.13 |
| PLCB1 | rs6140742 | C/G | 20: 8838465 | 36.3 | 3.52×10−14 | 1.01 | 0.94–1.09 |
| AHNAK2 | rs150385420 | A/G (S4485P) | 14: 104941998 | 2.6 | 6.43×10−14 | 0.98 | 0.77–1.23 |
| FBXO16 | rs3735726 | C/T (R63Q) | 8: 28463730 | 3.3 | 4.02×10−13 | 1.14 | 0.93–1.39 |
| CALR3 | rs3810198 | T/C | 19: 16490383 | 28.6 | 1.45×10−12 | 1.03 | 0.95–1.12 |
| PDGFD | rs10895547 | C/T | 11: 103937424 | 41.0 | 1.74×10−12 | 0.99 | 0.92–1.07 |
| LOC101928877 | rs6844558 | T/C | 4: 185060282 | 38.5 | 4.86×10−11 | 1.02 | 0.94–1.10 |
| MBD2 | rs1145315 | T/C | 18: 54162585 | 33.3 | 1.47×10−10 | 0.95 | 0.88–1.03 |
| LRTM1 | rs182902370 | C/T | 3: 54918891 | 0.9 | 3.41×10−10 | 1.10 | 0.74–1.62 |
| SEC16B | rs202187751 | G/C (D41H) | 1: 177967861 | 0.2 | 4.18×10−10 | 0.53 | 0.16–1.72 |
| NEURL4 | rs117553236 | T/G (M1048L) | 17: 7321417 | 0.3 | 5.35×10−10 | 0.97 | 0.41–2.33 |
| PPFIA1 | rs546502 | G/A (V71I) | 11: 70272383 | 15.9 | 6.09×10−10 | 1.18 | 1.08–1.30 |
| SLC18A1 | rs1390938 | G/A (T136I) | 8: 20179202 | 25.5 | 6.98×10−10 | 1.06 | 0.97–1.15 |
| DDOST | rs74526704 | C/T (R396Q) | 1: 20652655 | 0.2 | 9.25×10−10 | 0.86 | 0.34–2.20 |
| ZNF16 | rs139521477 | C/T (R669Q) | 8: 144930781 | 0.1 | 9.85×10−10 | 0.73 | 0.22–2.43 |
| TTC16 | rs142193455 | G/A (R450Q) | 9: 127726328 | 1.1 | 1.05×10−9 | 0.60 | 0.38–0.93 |
| SEMA4D | rs13295305 | C/T (R713K) | 9: 89363482 | 12.7 | 1.24×10−9 | 1.07 | 0.96–1.20 |
| TRH | rs13306057 | G/A (G3S) | 3: 129975823 | 0.2 | 1.47×10−9 | 0.44 | 0.14–1.41 |
| MAST4 | rs56337909 | G/A (S1863N) | 5: 67164767 | 2.7 | 3.19×10−9 | 1.01 | 0.79–1.28 |
| PTPRR | rs10784867 | C/T | 12: 70740947 | 48.3 | 4.83×10−9 | 0.98 | 0.91–1.06 |
| PREX1 | rs6095241 | G/A | 20: 48692260 | 41.5 | 4.95×10−9 | 1.09 | 1.01–1.18 |
| rs12402711 | G/A | 1: 41413409 | 27.1 | 6.95×10−9 | 1.00 | 0.92–1.09 | |
| rs10277516 | C/A | 7: 22869155 | 3.3 | 2.30×10−8 | 1.08 | 0.88–1.33 | |
| ROR2 | rs200805854 | C/A (E703D) | 9: 91724385 | 0.2 | 3.93×10−8 | 0.89 | 0.35–2.27 |
| DUS4L | rs4730250 | A/G | 7: 107567250 | 9.4 | 4.04×10−8 | 0.91 | 0.80–1.04 |
| rs11185362 | A/G | 1: 104018866 | 24.2 | 4.37×10−8 | 1.04 | 0.96–1.14 | |
| IL7R | rs3194051 | A/G (I356V) | 5: 35876172 | 7.4 | 6.06×10−8 | 1.01 | 0.87–1.16 |
| FAM200A | rs75129401 | T/C (H35R) | 7: 99548304 | 1.5 | 6.08×10−8 | 0.64 | 0.44–0.93 |
| PLXNC1 | rs75674989 | G/T (R614S) | 12: 94226656 | 3.8 | 6.12×10−8 | 0.84 | 0.68–1.03 |
| rs7131744 | G/A | 12: 4387114 | 44.7 | 7.92×10−8 | 1.09 | 1.01–1.18 | |
| PDIA5 | rs2292661 | C/T (T391M) | 3: 123150263 | 0.7 | 1.03×10−7 | 0.47 | 0.26–0.88 |
| GOLGB1 | rs3732407 | G/C (S911T) | 3: 121697776 | 3.5 | 1.11×10−7 | 1.15 | 0.94–1.41 |
| ARPC1B | rs1045012 | G/C (K37N) | 7: 99386731 | 1.7 | 1.97×10−7 | 0.94 | 0.70–1.27 |
| ALMS1 | rs138921247 | G/C (V807L) | 2: 73448943 | 1.8 | 2.71×10−7 | 0.87 | 0.65–1.16 |
| TRIM67 | rs1998027 | A/G | 1: 231190340 | 33.7 | 2.80×10−7 | 0.98 | 0.90–1.06 |
| C16orf95 | rs3748393 | A/C (S26A) | 16: 87317167 | 41.7 | 3.24×10−7 | 1.06 | 0.98–1.14 |
| CES5A | rs145397395 | C/T (V220M) | 16: 55866010 | 0.9 | 4.76×10−7 | 0.85 | 0.76–1.79 |
| ACTR5 | rs3752289 | C/T (P580L) | 20: 38771731 | 1.4 | 5.15×10−7 | 0.98 | 0.71–1.36 |
| rs3095354 | A/G | 6: 30868334 | 26.7 | 5.75×10−7 | 1.12 | 1.03–1.22 | |
| CYP4F12 | rs191885206 | T/C (C402R) | 19: 15696024 | 0.3 | 6.57×10−7 | 2.11 | 1.23–3.57 |
| CELSR2 | rs117684956 | G/A (V598M) | 1: 109251871 | 1.3 | 9.21×10−7 | 1.25 | 0.93–1.69 |
Allele frequencies were analyzed with Fisher's exact test.
a
Major allele/minor allele. SNP, single nucleotide polymorphisms; MAF, minor allele frequency; OR, odds ratio; CI, confidence interval; ND, not determined.