Table 2.
Significant and suggestive loci associated with decreased circulating MPO levels in the GWAS and gene-centric analyses
| Locus [nearest Gene(s)] | Lead SNP | Position (bp)a | Effect/Other alleleb | EAF | Beta (SE) | P-value | MPO Levels | Ethnicity | Analysis | I2-statistic |
|---|---|---|---|---|---|---|---|---|---|---|
| 1q31.3 (CFH) | rs800292 | 194 908 856 | A/G | 0.23 | −0.15 (0.01) | 4.89 × 10−41 | Serum | European | GWAS | 89.7 |
| 6p21.32 (NOTCH4-C2-HLA) | rs3134931 | 32 298 598 | T/C | 0.73 | −0.05 (0.01) | 1.49 × 10−08 | Serum | European | GWAS | 0 |
| 20p13 (SIRPB2) | rs6042507 | 1 407 060 | A/C | 0.11 | −0.09 (0.02) | 4.30 × 10−08 | Serum | European | GWAS | 38.5 |
| 1q42.13 (GALNT2) | rs2144300 | 228 361 539 | C/T | 0.39 | −0.05 (0.01) | 2.52 × 10−6 | Serum | European | GWAS | 34.5 |
| 8p21.3 (ATP6V1B2-LZTS1) | rs1390943 | 20 126 170 | G/T | 0.33 | −0.05 (0.01) | 9.38 × 10−7 | Serum | European | GWAS | 30.9 |
| 1q31.3 (CFH) | rs6680396 | 194 899 093 | G/A | 0.22 | −0.13 (0.01) | 6.65 × 10−43 | Serum | European | IBC | 88.5 |
| 6p21.32 (C2) | rs9332739 | 32 011 783 | C/G | 0.044 | −0.12 (0.02) | 4.83 × 10−10 | Serum | European | IBC | 0 |
| 17q22 (MPO) | rs28730837 | 53 710 396 | T/C | 0.014 | −0.27 (0.04) | 5.21 × 10−12 | Serum | European | IBC | 21.6 |
| 17q22 (MPO) | rs35897051 | 53 703 225 | C/A | 0.007 | −0.31 (0.06) | 3.32 × 10−8 | Serum | European | IBC | 63.9 |
| 17q22 (TRIM37) | rs8081967 | 54 427 483 | T/C | 0.36 | −0.05 (0.01) | 2.13 × 10−6 | Serum | European | IBC | 37.5 |
| 1q42.13 (GALNT2) | rs2144300 | 228 361 539 | C/T | 0.39 | −0.04 (0.01) | 2.52 × 10−7 | Serum | European | IBC | 0 |
| 1q31.3 (CFH) | rs505102 | 194 886 125 | G/A | 0.71 | −0.15 (0.03) | 1.05 × 10−8 | Serum | AAs | IBC | 0 |
| 1q23.3 (DARC) | rs2814778 | 157 441 307 | G/A | 0.78 | −0.21 (0.04) | 6.48 × 10−8 | Serum | AAs | IBC | 44.3 |
| 17q22 (C17orf71) | rs6503905 | 54 642 236 | A/G | 0.37 | −0.06 (0.01) | 2.94 × 10−12 | Plasma | European | GWAS | 39.7 |
| 17q22 (RNF43) | rs2680701 | 53 793 300 | G/A | 0.81 | −0.06 (0.01) | 4.98 × 10−10 | Plasma | European | GWAS | 42.4 |
| 17q22 (PPM1E) | rs9911753 | 54 337 956 | G/A | 0.39 | −0.05 (0.01) | 1.51 × 10−9 | Plasma | European | GWAS | 44.7 |
| 17q22 (MPO) | rs12940923 | 53 724 848 | A/T | 0.84 | −0.07 (0.01) | 3.85 × 10−9 | Plasma | European | GWAS | 44.5 |
| 1q42.13 (ABCB10-TAF5L-URB2-GALNT2) | rs12049351 | 227 784 624 | C/G | 0.79 | −0.05 (0.01) | 1.08 × 10−6 | Plasma | European | GWAS | 0 |
aSNP base pair (bp) positions are given according to NCBI build 36.1 of the reference human genome sequence.
bThe allele that lowers MPO levels is referred to as the effect allele. Units for betas are natural log-transformed circulating MPO levels in pmol/l.