Table 1. The ten most strongly associated SNPs in the unconditional GWAS on AAT serum level in SAPALDIA (N = 1392).
SNP | Chromosome | Position | Gene | Location | Determination | MAF | Imp-r2 | Allele Effect | P |
rs2736887 | 14 | 93882733 | intergenic | imputed | 0.185 | 0.950 | 0.071 | 2.48E-13 | |
rs926144 | 14 | 93883155 | intergenic | imputed | 0.186 | 0.950 | 0.071 | 2.72E-13 | |
rs7151526 | 14 | 93933389 | SERPINA1 | 5′UTR | imputed | 0.065 | 0.769 | 0.116 | 6.78E-13 |
rs4905179 | 14 | 93865245 | SERPINA6 | 5′UTR | genotyped | 0.180 | 1.000 | 0.068 | 1.20E-12 |
rs11621961 | 14 | 93839229 | SERPINA6 | 3′UTR | genotyped | 0.355 | 0.945 | 0.052 | 1.37E-11 |
rs17751837 | 14 | 93937997 | SERPINA1 | 5′UTR | genotyped | 0.097 | 0.995 | 0.063 | 8.56E-08 |
rs1028580 | 14 | 93919635 | SERPINA1 | intron | imputed | 0.154 | 0.979 | 0.051 | 4.87E-07 |
rs8010121 | 14 | 93920367 | SERPINA1 | intron | genotyped | 0.155 | 0.999 | 0.049 | 6.64E-07 |
rs3748312 | 14 | 93924017 | SERPINA1 | intron | imputed | 0.148 | 0.846 | 0.053 | 9.84E-07 |
rs17752593 | 14 | 94007781 | SERPINA9 | intron | genotyped | 0.129 | 0.997 | 0.053 | 1.59E-06 |
Abbreviations: AAT, alpha1-antitrypsin; GWAS, genome-wide association study; MAF, minor allele frequency; SNP, single nucleotide polymorphism.
Imp-r2 is an indicator for imputation quality. SNPs with MAF<0.05 or imp-r2<0.5 were excluded.
Chromosomal position is based on reference panel, NCBI build 36.3. Allele effects are shown in absolute numbers.