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. 2024 Jan 4;111(1):150–164. doi: 10.1016/j.ajhg.2023.12.006

Table 1.

Summary of SMR data mining across NDDs

Disease Total genes (unique) Liver genes Total eQTL genes (non-multi-ancestry) Replicated in multi-Ancestry Total druggable genes % Druggable Total non-druggable genes % Non-druggable
All tested genes (protein coding)

AD 16,833 1,597 15,112 8,404 3,562 21.2% 13,271 78.8%
ALS 16,875 1,610 15,163 8,408 3,565 21.1% 13,310 78.9%
FTLD 16,788 1,537 15,038 8,394 3,551 21.2% 13,237 78.8%
LBD 16,797 1,540 15,069 8,388 3,554 21.2% 13,243 78.8%
PD 16,872 1,596 15,159 8,407 3,566 21.1% 13,306 78.9%
PSP 16,042 1,033 13,839 8,073 3,420 21.3% 12,622 78.7%

Significance p_SMR_multi< 0.05 andp_HEIDI> 0.01

AD 8 175 3,189 2,079 1,142 14,275.0% 3,806 47,575.0%
ALS 3,188 83 1,857 1,260 715 22.4% 2,473 77.6%
FTLD 2,318 78 1,243 810 542 23.4% 1,776 76.6%
LBD 2,530 82 1,384 900 580 22.9% 1,950 77.1%
PD 3,592 108 2,161 1,434 811 22.6% 2,781 77.4%
PSP 2,275 30 1,270 842 574 25.2% 1,701 74.8%

Significance p_SMR_multi< 2.95E-06 (testing all protein coding genes) and p_HEIDI> 0.01

AD 116 2 68 7 31 26.7% 85 73.3%
ALS 3 0 3 0 0 0.0% 3 100.0%
FTLD 0 0 0 0 0 0.0% 0 0.0%
LBD 5 0 1 0 1 20.0% 4 80.0%
PD 46 3 33 5 15 32.6% 31 67.4%
PSP 9 0 5 3 2 22.2% 7 77.8%

Significance p_SMR_multi< 1.58E-08 (testing all protein coding genes across all omics) & p_HEIDI> 0.01

AD 47 1 19 19 14 29.8% 33 70.2%
ALS 1 0 0 0 0 0.0% 1 100.0%
FTLD 0 0 0 0 0 0.0% 0 0.0%
LBD 2 0 0 0 1 50.0% 1 50.0%
PD 24 1 14 14 8 33.3% 16 66.7%
PSP 8 0 5 5 2 25.0% 6 75.0%

AD, Alzheimer disease; ALS, amyotrophic lateral sclerosis; FTLD, frontotemporal dementia lobar degeneration; LBD, Lewy body dementia; PD, Parkinson disease; PSP, progressive supranuclear palsy.