Table 5-.
Multi-ancestry summary of APOE genotypes in Alzheimer’s disease and related dementia cases and controls in AoU, ADSP, UKB, AMP PD and 100KGP
| AoU | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AD | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 3, 0.55% | 2, 0.6% | 1, 3.12% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε3 | 46, 8.53% | 26, 7.80% | 2, 6.25% | 4, 5.63% | 2, 28.57% | 0, 0% | 0, 0% | 5, 10% | 0, 0% | 7, 17.07% | 0, 0% | 0, 0% | |
| ε2/ε4 or ε1/ε3 | 11, 2.04% | 5, 1.50% | 2, 6.25% | 1, 1.40% | 0, 0% | 0, 0% | 0, 0% | 1, 2% | 0, 0% | 2, 4.87% | 0, 0% | 0, 0% | |
| ε3/ε3 | 281, 52.13% | 171, 51.35% | 13, 40.62% | 46, 64.78% | 2, 28.57% | 1, 50% | 1, 100% | 26, 52% | 0, 0% | 20, 48.78% | 1, 50% | 0, 0% | |
| ε3/ε4 | 158, 29.31% | 106, 31.83% | 9, 28.12% | 19, 26.76% | 3, 42.85% | 0, 0% | 0, 0% | 11, 22% | 0, 0% | 9, 21.95% | 1, 50% | 0, 0% | |
| ε4/ε4 | 40, 7.42% | 23, 6.90% | 5, 15.62% | 1, 1.40% | 0, 0% | 1, 50% | 0, 0% | 7, 14% | 0, 0% | 3, 7.31% | 0, 0% | 0, 0% | |
| Total | 539 | 333 | 32 | 71 | 7 | 2 | 1 | 50 | 0 | 41 | 2 | 0 | |
| Dementia | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| 00_CC, unknown | 1, 0.06% | 1, 0.09% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 12, 0.72% | 7, 0.71% | 1, 0.57% | 2, 0.93% | 0, 0% | 0, 0% | 0, 0% | 1, 0.97% | 0, 0% | 1, 0.69% | 0, 0% | 0, 0% | |
| ε2/ε3 | 162, 9.78% | 88, 9.02% | 24, 13.71% | 19, 8.87% | 4, 21.05% | 1, 10% | 0, 0% | 8, 7.76% | 0, 0% | 18, 12.5% | 0, 0% | 0, 0% | |
| ε2/ε4 or ε1/ε3 | 38, 2.29% | 17, 1.74% | 12, 6.85% | 1, 0.46% | 0, 0% | 0, 0% | 0, 0% | 2, 1.94% | 0, 0% | 6, 4.16% | 0, 0% | 0, 0% | |
| ε3/ε3 | 912, 55.10% | 551, 56.51% | 77, 44% | 130, 60.74% | 10, 52.63% | 7, 70% | 6, 100% | 60, 58.25% | 2, 100% | 66, 45.83% | 3, 42.85% | 0, 0% | |
| ε3/ε4 | 449, 27.12% | 266, 27.28% | 53, 30.28% | 54, 25.23% | 5, 26.31% | 1, 10% | 0, 0% | 22, 21.35% | 0, 0% | 45, 31.25% | 3, 42.85% | 0, 0% | |
| ε4/ε4 | 81, 4.89% | 45, 4.61% | 8, 4.57% | 8, 3.73% | 0, 0% | 1, 10% | 0, 0% | 10, 9.70% | 0, 0% | 8, 5.55% | 1, 14.28% | 0, 0% | |
| Total | 1655 | 975 | 175 | 214 | 19 | 10 | 6 | 103 | 2 | 144 | 7 | 0 | |
| Controls | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| CT_00, unknown | 1, 0.007% | 1, 0.01% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| 00_CC, unknown | 1, 0.007% | 1, 0.01% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 90, 0.65% | 51, 0.57% | 18, 1.37% | 4, 0.3% | 3, 0.81% | 0, 0% | 0, 0% | 6, 0.68% | 0, 0% | 8, 0.89% | 0, 0% | 0, 0% | |
| ε2/ε3 | 1734, 12.53% | 1124, 12.65% | 220, 16.85% | 82, 6.28% | 61, 16.66% | 5, 6.84% | 13, 19.69% | 113, 12.94% | 3, 10.71% | 108, 12.02% | 5, 11.90% | 0, 0% | |
| ε2/ε4 or ε1/ε3 | 295, 2.13% | 168, 1.89% | 66, 5.05% | 11, 0.84% | 1, 0.27% | 1, 1.36% | 2, 3.03% | 10, 1.14% | 0, 0% | 36, 4.00% | 0, 0% | 0, 0% | |
| ε3/ε3 | 8537, 61.70% | 5597, 63.02% | 587, 44.98% | 927, 71.08% | 252, 68.85% | 51, 69.86% | 46, 69.69% | 575, 65.86% | 20, 71.42% | 453, 50.44% | 29, 69.04% | 0, 0% | |
| ε3/ε4 | 2930, 21.17% | 1817, 20.46% | 349, 26.74% | 265, 20.32% | 48, 13.11% | 16, 21.91% | 5, 7.57% | 160, 18.32% | 4, 14.28% | 259, 28.84% | 7, 16.66% | 0, 0% | |
| ε4/ε4 | 247, 1.78% | 121, 1.36% | 65, 4.98% | 15, 1.15% | 1, 0.27% | 0, 0% | 0, 0% | 9, 1.03% | 1, 3.57% | 34, 3.78% | 1, 2.38% | 0, 0% | |
| Total | 13835 | 8880 | 1305 | 1304 | 366 | 73 | 66 | 873 | 28 | 898 | 42 | 0 | |
| ADSP | |||||||||||||
| AD | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| 00_00, unknown | 45, 0.42% | 44, 0.75% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.18% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| 00_CC, unknown | 17, 0.16% | 10, 0.17% | 3, 0.45% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.18% | 0, 0% | 2, 0.17% | 0, 0% | 1, 0.09% | |
| 00_TC, unknown | 1, 0.00000095% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.18% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| TT_00, unknown | 7, 0.06% | 7, 0.12% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| CT_00, unknown | 22, 0.20% | 22, 0.37% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| CC_00, unknown | 9, 0.08% | 9, 0.15% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 21, 0.19% | 7, 0.12% | 4, 0.60% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 2, 0.37% | 0, 0% | 5, 0.44% | 0, 0% | 3, 0.28% | |
| ε2/ε3 | 479, 4.53% | 177, 3.04% | 47, 7.07% | 38, 3.49% | 3, 6% | 15, 8.52% | 1, 3.70% | 18, 3.35% | 0, 0% | 108, 9.65% | 2, 10% | 70, 6.57% | |
| ε2/ε4 or ε1/ε3 | 251, 2.37% | 129, 2.21% | 32, 4.81% | 9, 0.82% | 1, 2% | 4, 2.27% | 0, 0% | 11, 2.04% | 0, 0% | 41, 3.66% | 1, 5% | 23, 2.16% | |
| ε3/ε3 | 4296, 40.65% | 2070, 35.61% | 210, 31.62% | 686, 63.16% | 24, 48% | 112, 63.63% | 16, 59.25% | 241, 44.87% | 3, 27.27% | 377, 33.69% | 9, 45% | 548, 51.50% | |
| ε3/ε4 | 4263, 40.34% | 2596, 44.66% | 285, 42.92% | 301, 27.71% | 16, 32% | 43, 24.43% | 8, 29.62% | 222, 41.34% | 4, 36.36% | 443, 39.58% | 7, 35% | 338, 31.76% | |
| ε4/ε4 | 1155, 10.93% | 741, 12.74% | 83, 12.5% | 52, 4, 78% | 6, 12% | 2, 1.13% | 2, 7.40% | 40, 7.44% | 4, 36.36% | 143, 12.77% | 1, 5% | 81, 7.61% | |
| Total | 10566 | 5812 | 664 | 1086 | 50 | 176 | 27 | 537 | 11 | 1119 | 20 | 1064 | |
| Controls | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| 00_00, unknown | 124, 0.76% | 120, 2.72% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.06% | 0, 0% | 3, 0.17% | |
| 00_CC, unknown | 21, 0.12% | 13, 0.29% | 2, 0.11% | 1, 0.02% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 4, 0.25% | 0, 0% | 1, 0.05 | |
| 00_TC, unknown | 3, 0.01% | 2, 0.04% | 1, 0.05% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| TT_00, unknown | 5, 0.03% | 3, 0.06% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.21% | 0, 0% | 0, 0% | 0, 0% | 1, 0.05 | |
| CT_00, unknown | 83, 0.51% | 82, 1.85% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.21% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| CC_00, unknown | 8, 0.04% | 8, 0.18% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 1, 0.006% | 0, 0% | 1, 0.05% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 71, 0.43% | 18, 0.40% | 22, 1.30% | 5, 0.12% | 0, 0% | 3, 0.13% | 0, 0% | 1, 0.21% | 0, 0% | 15, 0.95% | 2, 1.52% | 5, 0.29% | |
| ε2/ε3 | 1528, 9.42% | 418, 9.47% | 244, 14.48% | 217, 5.47% | 5, 17.24% | 175, 7.67% | 1, 11.11% | 47, 10.23% | 3, 25% | 235, 15.03% | 18, 13.74% | 165, 9.86% | |
| ε2/ε4 or ε1/ε3 | 293, 1.80% | 68, 1.54% | 78, 4.62% | 28, 0.70% | 1, 3.44% | 25, 1.09% | 0, 0% | 4, 0.87% | 0, 0% | 61, 3.90% | 1, 0.76% | 27, 1.61% | |
| ε3/ε3 | 10197, 62.87% | 2540, 57.58% | 777, 46.11% | 3008, 75.82% | 12, 41.37% | 1649, 72.35% | 6, 66.66% | 270, 58.82% | 5, 41.66% | 765, 48.94% | 86, 65.64% | 1079, 64.53% | |
| ε3/ε4 | 3544, 21.85% | 1026, 23.26% | 494, 29.31% | 672, 16.93% | 8, 27.58% | 398, 17.46% | 2, 22.22% | 128, 27.88% | 4, 33.33% | 435, 27.83% | 20, 15.26% | 357, 21.35% | |
| ε4/ε4 | 339, 2.09% | 113, 2.56% | 66, 3.91% | 36, 0.90% | 3, 10.34% | 29, 1.27% | 0, 0% | 7, 1.52% | 0, 0% | 47, 3.00% | 4, 3.05% | 34, 2.03% | |
| Total | 16217 | 4411 | 1685 | 3967 | 29 | 2279 | 9 | 459 | 12 | 1563 | 131 | 1672 | |
| UKB | |||||||||||||
| AD | |||||||||||||
| Genotypes | Number of participants (n, | %) EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 9, 0.21% | 8, 0.20% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 11.11% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε3 | 212, 5.02% | 205, 5.06% | 5, 9.62% | 0, 0% | 0, 0% | 1, 2.04% | 0, 0% | 0, 0% | 0, 0% | 1, 8.33% | 0, 0% | 0, 0% | |
| ε2/ε4 or ε1/ε3 | 102, 0.02% | 97, 2.39% | 5, 9.62% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε3/ε3 | 1391, 32.92% | 1321, 32.61% | 11, 21.15% | 0, 0% | 5, 71.43% | 25, 51.02% | 6, 66.67% | 10, 37.04% | 0, 0% | 1, 8.33% | 6, 60% | 6, 75% | |
| ε3/ε4 | 1931, 45.70% | 1867, 46.09% | 18, 34.62% | 0, 0% | 2, 28.57% | 20, 40.82% | 1, 11.11% | 15, 55.56% | 0, 0% | 3, 25% | 3, 30% | 2, 25% | |
| ε4/ε4 | 580, 13.73% | 553, 13.65% | 13, 25% | 0, 0% | 0, 0% | 3, 6.12% | 1, 11.11% | 2, 7.41% | 0, 0% | 7, 58.33% | 1, 10% | 0, 0% | |
| total | 4225 | 4051 | 52 | 0 | 7 | 49 | 9 | 27 | 0 | 12 | 10 | 8 | |
| Dementia | |||||||||||||
| Genotypes | Number of participants (n, | %) EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 24, 0.45% | 23, 0.46% | 1, 1.56% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε3 | 447, 8.42% | 427, 8.49% | 6, 9.38% | 0, 0% | 2, 20% | 6, 8.57% | 2, 15.38% | 2, 4.65% | 0, 0% | 1, 4.17% | 1, 4.35% | 0, 0% | |
| ε2/ε4 or ε1/ε3 | 165, 3.11% | 153, 3.04% | 4, 6.25% | 0, 0% | 1, 10% | 1, 1.43% | 0, 0% | 1, 2.33% | 0, 0% | 3, 12.50% | 0, 0% | 2, 7.41% | |
| ε3/ε3 | 2432, 45.83% | 2291, 45.56% | 23, 35.94% | 2, 66.67% | 6, 60% | 38, 54.29% | 10, 76.92% | 26, 60.47% | 0, 0% | 8, 33.33% | 15, 65.22% | 13, 48.15% | |
| ε3/ε4 | 1832, 34.53% | 1748, 34.77% | 22, 34.38% | 1, 33.33% | 1, 10% | 21, 30% | 1, 7.69% | 13, 30.23% | 1, 100% | 7, 29.17% | 6, 26.09% | 11, 40.74% | |
| ε4/ε4 | 406, 7.65% | 386, 7.68% | 8, 12.50% | 0, 0% | 0, 0% | 4, 5.71% | 0, 0% | 1, 2.33% | 0, 0% | 5, 20.83% | 1, 4.35% | 1, 3.70% | |
| total | 5306 | 5028 | 64 | 3 | 10 | 70 | 13 | 43 | 1 | 24 | 23 | 27 | |
| Controls | |||||||||||||
| Genotypes | Number of participants (n, | %) EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 367, 0.65% | 358, 0.66% | 3, 0.67% | 0, 0% | 1, 0.65% | 1, 0.15% | 0, 0% | 2, 0.48% | 0, 0% | 0, 0% | 1, 0.49% | 1, 0.59% | |
| ε2/ε3 | 7416, 13.07% | 7167, 13.17% | 67, 15.06% | 4, 8.33% | 18, 11.69% | 51, 7.59% | 5, 8.06% | 38, 9.13% | 3, 20% | 29, 21.80% | 16, 7.84% | 18, 10.65% | |
| ε2/ε4 or ε1/ε3 | 1300, 2.29% | 1231, 2.26% | 29, 6.52% | 0, 0% | 2, 1.30% | 8, 1.19% | 0, 0% | 11, 2.64% | 0, 0% | 9, 6.77% | 4, 1.96% | 6, 3.55% | |
| ε3/ε3 | 34770, 61.28% | 33277, 61.15% | 193, 43.37% | 33, 68.75% | 103, 66.88% | 508, 75.60% | 50, 80.65% | 284, 68.27% | 10, 66.67% | 56, 42.11% | 153, 75% | 103, 60.95% | |
| ε3/ε4 | 11946, 21.05% | 11491, 21.11% | 136, 30.56% | 11, 22.92% | 28, 18.18% | 95, 14.14% | 6, 9.68% | 78, 18.75% | 2, 13.33% | 33, 24.81% | 29, 14.22% | 37, 21.89% | |
| ε4/ε4 | 942, 1.66% | 899, 1.65% | 17, 3.82% | 0, 0% | 2, 1.30% | 9, 1.34% | 1, 1.61% | 3, 0.72% | 0, 0% | 6, 4.51% | 1, 0.49% | 4, 2.37% | |
| total | 56741 | 54423 | 445 | 48 | 154 | 672 | 62 | 416 | 15 | 133 | 204 | 169 | |
| AMP PD | |||||||||||||
| DLB | |||||||||||||
| Genotypes | Number of participants (n, | %) EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| unknown,unknown | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 5, 0.20% | 5, 0.21% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε3 | 191, 7.55% | 179, 7.44% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 12, 10.62% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε4 or ε1/ε3 | 84, 3.32% | 78, 3.24% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 6, 5.31% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε3/ε3 | 1162, 45.93% | 1108, 46.05% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 3, 50% | 48, 42.48% | 3, 60% | 0, 0% | 0, 0% | 0, 0% | |
| ε3/ε4 | 882, 34.86% | 842, 35% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 3, 50% | 35, 30.97% | 2, 40% | 0, 0% | 0, 0% | 0, 0% | |
| ε4/ε4 | 206, 8.14% | 194, 8.06% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 12, 10.62% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| total | 2530 | 2406 | 0 | 0 | 0 | 0 | 6 | 113 | 5 | 0 | 0 | 0 | |
| Controls | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | MDE (n, %) | AJ (n, %) | FIN (n, %) | AAC (n, %) | CAS (n, %) | CAH (n, %) | |
| unknown,unknown | 4, 0.12% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 100% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 3, 100% | 0, 0% | |
| ε1/ε1 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε2 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε1/ε4 | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε2/ε2 | 13, 0.40% | 11, 0.38% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.41% | 0, 0% | 1, 2.50% | 0, 0% | 0, 0% | |
| ε2/ε3 | 352, 10.76% | 310, 10.62% | 4, 13.79% | 1, 7.14% | 1, 20% | 0, 0% | 0, 0% | 31, 12.60% | 0, 0% | 4, 10% | 0, 0% | 1, 25% | |
| ε2/ε4 or ε1/ε3 | 49, 1.50% | 40, 1.37% | 1, 3.45% | 1, 7.14% | 0, 0% | 0, 0% | 0, 0% | 7, 2.85% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| ε3/ε3 | 2100, 64.22% | 1885, 64.58% | 19, 65.52% | 9, 64.29% | 3, 60% | 0, 0% | 4, 100% | 146, 59.35% | 5, 100% | 26, 65% | 0, 0% | 3, 75% | |
| ε3/ε4 | 698, 21.34% | 620, 21.24% | 5, 17.24% | 3, 21.43% | 1, 20% | 0, 0% | 0, 0% | 60, 24.39% | 0, 0% | 9, 22.50% | 0, 0% | 0, 0% | |
| ε4/ε4 | 54, 1.65% | 53, 1.82% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 1, 0.41% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | |
| total | 3270 | 2919 | 29 | 14 | 5 | 1 | 4 | 246 | 5 | 40 | 3 | 4 | |
| 100KGP | |||||||||||||
| Dementia | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | NA (n, %) | ||||||
| NA | 10, 5.55% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 10, 100% | ||||||
| ε2/ε3 | 11, 6.11% | 9, 6.29% | 1, 14.28% | 0, 0% | 0, 0% | 1, 6.25% | 0, 0% | ||||||
| ε2/ε4 or ε1/ε3 | 3, 1.67% | 3, 2.10% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | ||||||
| ε3/ε3 | 69, 38.33% | 58, 40.56% | 1, 14.28% | 2, 66.67% | 1, 100% | 7, 43.75% | 0, 0% | ||||||
| ε3/ε4 | 66, 36.67% | 54, 37.76% | 4, 57.14% | 0, 0% | 0, 0% | 8, 50% | 0, 0% | ||||||
| ε4/ε4 | 21, 11.67% | 19, 13.29% | 1, 14.28% | 1, 33.33% | 0, 0% | 0, 0% | 0, 0% | ||||||
| Total | 180 | 143 | 7 | 3 | 1 | 16 | 10 | ||||||
| Controls | |||||||||||||
| Genotypes | Number of participants (n, %) | EUR (n, %) | AFR (n, %) | AMR (n, %) | EAS (n, %) | SAS (n, %) | NA (n, %) | ||||||
| NA | 31, 0.89% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 0, 0% | 31, 100% | ||||||
| ε2/ε2 | 25, 0.71% | 22, 0.72% | 1, 1.61% | 1, 1.16% | 0, 0% | 1, 0.41% | 0, 0% | ||||||
| ε2/ε3 | 436, 12.53% | 394, 12.97% | 7, 11.29% | 9, 10.46% | 4, 18.18% | 22, 9.12% | 0, 0% | ||||||
| ε2/ε4 or ε1/ε3 | 72, 2.06% | 61, 2.00% | 6, 9.67% | 1, 1.16% | 1, 4.54% | 3, 1.24% | 0, 0% | ||||||
| ε3/ε3 | 2042, 58.69% | 1765, 58.11% | 25, 40.32% | 61, 70.93% | 14, 63.63% | 177, 73.44% | 0, 0% | ||||||
| ε3/ε4 | 802, 23.05% | 729, 24.00% | 20, 32.25% | 13, 15.11% | 3, 13.63% | 37, 15.35% | 0, 0% | ||||||
| ε4/ε4 | 71, 2.04% | 66, 2.17% | 3, 4.83% | 1, 1.16% | 0, 0% | 1, 0.41% | 0, 0% | ||||||
| Total | 3479 | 3037 | 62 | 86 | 22 | 241 | 31 | ||||||
In 100KGP, genotypes that could not be detected are shown as NA. AD, Alzheimer’s disease; DLB, Dementia with Lewy bodies; 100KGP, 100,000 Genomes Project; ADSP, Alzheimer’s Disease Sequencing Project;
UKB, UK Biobank; AMP PD, Accelerating Medicines Partnership in Parkinson’s Disease; AoU, All of Us; EUR, European; AFR, African; AMR, American Admixed; AAC,African Admixed; AJ, Ashkenazi Jewish; CAS, Central Asian; EAS, Eastern Asian; SAS, South Asian; MDE, Middle Eastern; FIN, Finnish; CAH, Complex Admixture History.