Table 4. Summary of cerebral amyloid deposition florbetapir PET quantitative traits—SNPs with uncorrected p-value less than 1x10-6.
Top variants were clumped using parameters—clump-p1 0.000001—clump-p2 0.05—clump-r2 0.2—clump-range entrez.gene.map—clump-range-border 20.
| SNP a | CHR | BP b | Func | Gene | MAF c | Imputed2.5M/0mni Express | A1 | A2 | P d | β e | ExonicFunc |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AV45 (not correcting APOE ε4) | |||||||||||
| rs76117213 | 4 | 85596236 | intronic | WDFY3 | 0.01 | Y/Y | G | A | 1.39E-07 | -0.26 | |
| rs362902 | 6 | 146681157 | intronic | GRM1 | 0.01 | Y/Y | T | C | 6.30E-07 | -0.27 | |
| rs36116061 | 8 | 89373327 | intergenic | MMP16(d ist = 33610), RIPK2(dist = 1396648) | 0.18 | N/Y | T | G | 6.93E-07 | 0.06 | |
| rs708886 | 12 | 119958702 | intronic | CCDC60 | 0.44 | Y/Y | T | G | 8.47E-07 | -0.05 | |
| rs28810 | 16 | 3500515 | intronic | NAA60 | 0.12 | Y/Y | A | G | 4.78E-07 | 0.06 | |
| rs589398 | 18 | 5311892 | intergenic | ZBTB14(dist = 14840),EPB41 L3(dist = 80496) | 0.99 | Y/Y | C | T | 3.48E-07 | 0.19 | |
| rs7407664 | 18 | 9031719 | intergenic | SOGA2(d ist = 198944), NDUFV2(dist = 70909) | 0.03 | Y/Y | A | G | 3.01 E-07 | -0.14 | |
| rs6859 | 19 | 45382034 | UTR3 | PVRL2 | 0.61 | N/N | A | G | 1.68E-07 | 0.05 | |
| rs157580 | 19 | 45395266 | intronic | T0MM40 | 0.63 | N/N | G | A | 1.63E-07 | -0.05 | |
| rs429358 | 19 | 45411941 | exonic | APOE | 0.15 | Y/Y | T | C | 7.99E-32 | -0.13 | nonsynonymous SNV |
| rs1081105 | 19 | 45412955 | dow nstream | APOE | 0.02 | Y/Y | A | C | 1.48E-08 | -0.13 | |
| rs12721052 | 19 | 45421972 | intronic | AP0C1 | 0.2568 | Y/Y | AG | A | 1.65E-07 | 0.06 | |
| rs60049679 | 19 | 45429708 | upstream | APOC1P1 | 0.11 | Y/Y | G | C | 1.30E-08 | -0.14 | |
| AV45 (correcting APOE ε4) | |||||||||||
| rs200527573 | 1 | 212742242 | intronic | ATF3 | 0.0042 | Y/Y | C | CTATT | 7.90E-07 | -0.28 | |
| rs57450513 | 5 | 141225446 | intergenic | ARAP3(dist = 163646), PCDH1 (dist = 7227) | 0.01 | Y/Y | C | A | 2.42E-07 | -0.22 | |
| rs708886 | 12 | 119958702 | intronic | CCDC60 | 0.44 | Y/Y | T | G | 9.33E-07 | -0.05 | |
| rs28810 | 16 | 3500515 | intronic | NAA60 | 0.12 | Y/Y | A | G | 5.90E-07 | 0.06 |
Chr, chromosome; A1, first allele code; A2, second allele code
a Representative SNPs with uncorrected p < 1x10-6 in any of the Cerebral amyloid deposition GWAS Analyses
b Build 37, assembly hg19
c based on 2012 Apr release of 1000genome and all population
d Fixed-effects meta-analysis p-value
e Beta coefficient of for the SNP assuming additive genetic model