Table 1.
Single-SNP based association of the AD loci with MRI markers of brain aging
Index SNPa |
Proxy | Closest gene |
Chr:positionb | Distance from Genec |
Intra-Cranial Volume (in cm3) |
Total Brain Volume (in % ICV) |
Hippocampal Volume (in cm3) |
WMH burdend | Brain Infarcts (yes/no) | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ||||||||||||||||||
β | SE | p | β | SE | p | β | SE | p | Z- statistics |
p | β | SE | p | |||||
rs2075650 | APOE | 19:45395619 | 13.39kb | 4.405 | 2.605 | 0.091 | −0.1 | 0.072 | 0.168 | −0.042 | 0.015 | 0.0054 | 1.089 | 0.276 | −0.081 | 0.062 | 0.195 | |
rs9331896 | rs2279590 | CLU | 8:27467686 | wg | −3.112 | 1.795 | 0.083 | −0.104 | 0.051 | 0.04 | −0.009 | 0.011 | 0.416 | −1.546 | 0.122 | −0.012 | 0.043 | 0.771 |
rs10792832 | PICALM | 11:85867875 | 86.95kb | 0.763 | 1.681 | 0.65 | 0.064 | 0.047 | 0.18 | −0.001 | 0.01 | 0.863 | 1.243 | 0.214 | 0.003 | 0.04 | 0.932 | |
rs6656401 | CR1 | 1:207692049 | wg | −2.834 | 2.19 | 0.196 | 0.023 | 0.061 | 0.713 | 0.016 | 0.013 | 0.211 | 0.375 | 0.708 | −0.069 | 0.054 | 0.197 | |
rs6733839 | rs744373 | BIN1 | 2:127892810 | 27.91kb | −1.943 | 1.862 | 0.297 | −0.07 | 0.052 | 0.183 | −0.024 | 0.011 | 0.027 | −0.168 | 0.867 | 0.079 | 0.043 | 0.064 |
rs4147929 | rs3752246 | ABCA7 | 19:1063443 | wg | 0.103 | 2.342 | 0.965 | −0.018 | 0.065 | 0.786 | −0.017 | 0.014 | 0.226 | NA | NA | 0.017 | 0.058 | 0.773 |
rs983392 | rs11230161 | MS4A6A | 11:59923508 | 15.57kb | −3.093 | 1.675 | 0.065 | −0.059 | 0.047 | 0.214 | −0.023 | 0.01 | 0.021 | −1.42 | 0.156 | −0.012 | 0.043 | 0.782 |
rs10948363 | CD2AP | 6:47487762 | wg | 1.537 | 1.845 | 0.405 | −0.017 | 0.052 | 0.742 | 0.003 | 0.011 | 0.87 | 1.089 | 0.276 | −0.035 | 0.044 | 0.433 | |
rs11771145 | EPHA1 | 7:143110762 | 4.78kb | 3.353 | 1.901 | 0.078 | −0.026 | 0.053 | 0.625 | 0.003 | 0.011 | 0.912 | NA | NA | −0.023 | 0.042 | 0.592 | |
rs3865444 | CD33 | 19:51727962 | 0.36kb | −5.209 | 1.886 | 0.0058 | 0.025 | 0.053 | 0.638 | −0.019 | 0.011 | 0.087 | −0.362 | 0.717 | −0.088 | 0.045 | 0.048 | |
rs9271192 | HLA-DRB1e | 6:32578530 | 20.92kb | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | |
rs28834970 | rs2322599 | PTK2B | 8:27195121 | wg | 3.675 | 1.67 | 0.028 | −0.006 | 0.047 | 0.898 | −0.003 | 0.01 | 0.762 | −0.824 | 0.41 | −0.006 | 0.04 | 0.89 |
rs11218343 | rs7939826 | SORL1 | 11:121435587 | wg | 4.525 | 6.239 | 0.468 | −0.165 | 0.174 | 0.341 | 0.011 | 0.037 | 0.768 | NA | NA | 0.316 | 0.155 | 0.041 |
rs10498633 | SLC24A4 | 14:92926952 | wg | −2.052 | 2.042 | 0.315 | 0.01 | 0.057 | 0.858 | −0.012 | 0.012 | 0.329 | 0.363 | 0.717 | 0.049 | 0.048 | 0.304 | |
rs35349669 | rs7607736 | INPP5D | 2:234068476 | wg | −3.625 | 1.723 | 0.035 | −0.063 | 0.048 | 0.196 | −0.01 | 0.01 | 0.313 | 0.856 | 0.392 | −0.003 | 0.041 | 0.935 |
rs190982 | MEF2C | 5:88223420 | 23.50kb | −1.611 | 1.918 | 0.401 | 0.034 | 0.054 | 0.525 | 0.005 | 0.011 | 0.687 | 0.545 | 0.586 | 0.046 | 0.044 | 0.3 | |
rs2718058 | rs12155159 | NME8 | 7:37841534 | 46.67kb | 2.168 | 1.762 | 0.218 | 0 | 0.05 | 0.994 | 0.012 | 0.01 | 0.271 | −0.438 | 0.662 | 0.027 | 0.042 | 0.523 |
rs1476679 | ZCWPW1 | 7:100004446 | wg | −0.22 | 1.8 | 0.903 | −0.017 | 0.051 | 0.738 | −0.01 | 0.011 | 0.36 | −0.053 | 0.958 | −0.014 | 0.044 | 0.754 | |
rs10838725 | rs10838726 | CELF1 | 11:47557871 | wg | −0.433 | 1.795 | 0.809 | 0.085 | 0.05 | 0.092 | 0 | 0.011 | 0.992 | −1.012 | 0.312 | −0.068 | 0.043 | 0.115 |
rs17125944 | FERMT2 | 14:53400629 | wg | 0.465 | 2.767 | 0.867 | −0.025 | 0.078 | 0.744 | 0.015 | 0.016 | 0.347 | −0.574 | 0.566 | 0.069 | 0.071 | 0.332 | |
rs7274581 | rs927174 | CASS4 | 20:55018260 | wg | −0.435 | 2.956 | 0.883 | −0.119 | 0.083 | 0.152 | −0.014 | 0.017 | 0.421 | 0.055 | 0.956 | 0.084 | 0.07 | 0.228 |
Key: β, beta (meta-analysis effect estimate) per allele increase of the risk allele; Z-statistic, meta-analysis of Z-statistics (beta/SE) from each study, weighted by effective sample size (product of the sample size and the ratio of the empirically observed dosage variance to the expected binomial dosage variance for imputed SNPs); WMH, white matter hyperintensities; SE, standard error
Index SNP was defined as the SNP with the lowest p at the locus.
Chr:position has been provided for the index SNP as per NCBI build 37 (GRCh37.p10).
Distance from gene start or end (whichever is shortest) is provided in kilo bases (kb) and if within gene, wg notation used.
expressed in cm3 or on a semi-quantitative 10-point scale in the original study.
Neither the index SNP nor any SNP in LD with index SNP is available in the HapMap based imputed data meta-analysis results p<0.0025 (α=0.05/20) was considered significant after correcting for number of independent loci tested