Table 1 ∣.
Genome-wide association results for subcortical brain volumes in Europeans from the CHARGE and ENIGMA consortia and UK Biobank
SNP | Chromosome | Position | Function | A1/A2 | A1 frequency | Weight (SNP n) | Z score | P valuea | Directionb | I2c |
---|---|---|---|---|---|---|---|---|---|---|
Nucleus accumbens (n = 32,562) | ||||||||||
rs9818981d | 3 | 190,602,087 | Intergenic | A/G | 0.09 | 32,282 | −6.23 | 4.70 × 10−10 | −−− | 63.2 |
rs13107325 | 4 | 103,188,709 | Missense | T/C | 0.06 | 32,283 | 6.15 | 7.74 × 10−10 | +++ | 76.2 |
rs11747514d | 5 | 65,839,259 | Intronic | T/G | 0.22 | 32,562 | −5.99 | 2.11 × 10−9 | −−− | 0 |
rs868202d | 14 | 56,195,762 | Intergenic | T/C | 0.56 | 32,562 | 5.90 | 3.55 × 10−9 | +++ | 0 |
Amygdala (n = 34,431) | ||||||||||
rs11111293d | 12 | 102,921,296 | Intergenic | T/C | 0.78 | 34,313 | 6.25 | 4.16 × 10−10 | +++ | 0 |
Brainstem (n = 28,809) | ||||||||||
rs11111090 | 12 | 102,326,461 | Intergenic | A/C | 0.52 | 28,809 | 10.79 | 3.70 × 10−27 | +++ | 0 |
rs10217651d | 9 | 118,923,652 | Intronic | A/G | 0.39 | 28,809 | 9.78 | 1.40 × 10−22 | +++ | 0 |
rs869640d | 5 | 65,015,128 | Intronic | A/C | 0.72 | 28,809 | −8.40 | 4.36 × 10−17 | −−− | 9.5 |
rs9398173d | 6 | 109,000,316 | Intronic | T/C | 0.33 | 28,809 | −7.95 | 1.80 × 10−15 | −−− | 19.0 |
rs10792032d | 11 | 68,984,602 | Intergenic | A/G | 0.49 | 28,648 | 7.75 | 9.08 × 10−15 | +++ | 39.4 |
rs4396983d | 4 | 15,132,604 | Intergenic | A/G | 0.44 | 28,809 | −7.02 | 2.27 × 10−12 | −−− | 73.6 |
rs9322194d | 6 | 149,920,249 | Intronic | T/C | 0.34 | 28,156 | 6.91 | 4.94 × 10−12 | +++ | 0 |
rs7972561d | 12 | 107,139,983 | Intronic | A/T | 0.33 | 28,809 | 6.90 | 5.05 × 10−12 | +++ | 0 |
rs2206656d | 20 | 49,130,119 | Intronic | C/G | 0.61 | 28,809 | 6.83 | 8.26 × 10−12 | +++ | 0 |
rs12479469d | 20 | 61,145,196 | Intergenic | A/G | 0.33 | 25,822 | −6.80 | 1.08 × 10−11 | −−− | 65.6 |
rs4784256d | 16 | 52,814,559 | Intergenic | A/G | 0.40 | 28,809 | 6.76 | 1.41 × 10−11 | +++ | 0 |
rs555925d | 3 | 193,544,359 | intergenic | T/G | 0.41 | 27,934 | 6.37 | 1.88 × 10−10 | +++ | 62.9 |
rs12313279d | 12 | 102,846,504 | Intronic | A/G | 0.29 | 28,809 | 6.21 | 5.39 × 10−10 | +++ | 24.9 |
rs9505301d | 6 | 7,887,131 | Intronic | A/G | 0.89 | 28,691 | −6.05 | 1.41 × 10−9 | −−− | 43.2 |
rs11684404d | 2 | 88,924,622 | Intronic | T/C | 0.66 | 28,809 | −5.95 | 2.73 × 10−9 | −−− | 0 |
rs112178027d | 17 | 27,564,013 | Intergenic | T/C | 0.17 | 28,809 | −5.90 | 3.67 × 10−9 | −−− | 0 |
Caudate nucleus (n = 37,741) | ||||||||||
rs3133370 | 11 | 92,026,446 | Intergenic | T/C | 0.67 | 37,741 | 7.52 | 5.59 × 10−14 | +++ | 44.9 |
rs6060983d | 20 | 30,420,924 | Intronic | T/C | 0.70 | 37,741 | 7.04 | 1.95 × 10−12 | +++ | 0 |
rs7040561d | 9 | 128,528,978 | Intronic | A/T | 0.85 | 34,049 | −6.26 | 3.84 × 10−10 | −−− | 0 |
rs2817145d | 1 | 3,133,422 | Intronic | A/T | 0.19 | 35,598 | 6.20 | 5.71 × 10−10 | +++ | 65.3 |
rs148470213d | 14 | 56,193,700 | Intergenic | T/C | 0.54 | 29,429 | 6.18 | 6.48 × 10−10 | ++? | 0 |
rs1987471d | 16 | 28,825,866 | Intergenic | T/G | 0.63 | 37,741 | 5.87 | 4.40 × 10−9 | +++ | 0 |
rs12445022d | 16 | 87,575,332 | Intergenic | A/G | 0.33 | 37,741 | 5.87 | 4.45 × 10−9 | +++ | 0 |
rs55989340d | 14 | 100,635,222 | Intergenic | A/G | 0.74 | 37,741 | −5.86 | 4.62 × 10−9 | −−− | 52.0 |
rs4888010d | 16 | 73,895,046 | Intergenic | A/G | 0.47 | 37,741 | 5.86 | 4.67 × 10−9 | +++ | 74.9 |
rs35305377d | 7 | 99,938,955 | Intronic | A/G | 0.55 | 33,429 | −5.84 | 5.36 × 10−9 | −−− | 47.8 |
Globus pallidus (n = 34,413) | ||||||||||
rs2923447 | 8 | 42,439,848 | Intergenic | T/G | 0.59 | 34,413 | 8.11 | 4.88 × 10−16 | +++ | 34.0 |
rs10129414d | 14 | 56,193,272 | Intergenic | A/G | 0.44 | 34,413 | −7.53 | 5.11 × 10−14 | −−− | 0 |
rs196807d | 8 | 24,682,649 | Intergenic | A/G | 0.18 | 34,295 | 6.44 | 1.17 × 10−10 | +++ | 21.1 |
rs10439607d | 20 | 30,258,541 | Intronic | A/G | 0.30 | 34,413 | −6.28 | 3.35 × 10−10 | −−− | 0 |
rs4952211d | 2 | 32,611,512 | Intronic | T/C | 0.43 | 34,252 | −5.86 | 4.72 × 10−9 | −−− | 61.9 |
rs12567402d | 1 | 21,870,213 | Intronic | T/C | 0.33 | 34,214 | 5.81 | 6.17 × 10−9 | +++ | 0 |
Putamen (n = 37,571) | ||||||||||
rs945270 | 14 | 56,200,473 | Intergenic | C/G | 0.58 | 37,571 | 15.03 | 5.02 × 10−51 | +++ | 57.3 |
rs62098013 | 18 | 50,863,861 | Intronic | A/G | 0.38 | 37,571 | 8.92 | 4.59 × 10−19 | +++ | 33.9 |
rs6087771 | 20 | 30,306,724 | Intronic | T/C | 0.71 | 36,291 | 8.69 | 3.75 × 10−18 | +++ | 7.5 |
rs35200015d | 11 | 117,383,215 | Intronic | A/G | 0.19 | 37,571 | −8.19 | 2.51 × 10−16 | −−− | 0 |
rs1432054 | 11 | 83,260,225 | Intronic | A/G | 0.64 | 37,571 | −7.94 | 2.10 × 10−15 | −−− | 0 |
rs7902527d | 10 | 118,715,399 | Intronic | A/G | 0.24 | 37,108 | 6.29 | 3.13 × 10−10 | +++ | 0 |
rs2244479d | 7 | 50,738,987 | Intronic | T/C | 0.65 | 36,291 | −5.92 | 3.17 × 10−9 | −−− | 32.1 |
rs2410767d | 5 | 87,705,268 | Intronic | C/G | 0.78 | 37,571 | 5.88 | 3.99 × 10−9 | +++ | 0 |
rs1187162d | 11 | 92,011,126 | Intergenic | T/C | 0.42 | 37,571 | 5.84 | 5.14 × 10−9 | +++ | 0 |
Thalamus (n = 34,464) | ||||||||||
rs12600720d | 17 | 78,448,640 | Intronic | C/G | 0.69 | 33,023 | 6.25 | 4.06 × 10−10 | +++ | 0 |
rs142461330d | 7 | 55,012,097 | Intergenic | T/C | 0.92 | 34,185 | −5.90 | 3.69 × 10−9 | −−− | 0 |
Linear regression models are adjusted for sex, age, age2, total intracranial volume (CHARGE and ENIGMA) or total brain volume (UK Biobank), and population stratification.
P values are two tailed. Significance was set at P < 8.3 × 10−9 after additional Bonferroni correction for six independent traits (5 × 10−8/6).
Direction of association, ordered as CHARGE, ENIGMA, and UK Biobank.
Heterogeneity as estimated proportion of total variance.
Novel SNPs. A1, coded allele; A2, non-coded allele.