TABLE 1.
Association estimates for SNPs associated with biomarkers of iron status at genome-wide significance (p < 5 × 10–8) identified from GIS consortium.
| CHR | SNP (position, build 37) | Nearest gene: region (Build 37) | EA/OA | EAF | Beta (SE) |
|||
| Iron | Ferritin (log) | Transferrin saturation | Transferrin | |||||
| 6 | rs1799945* (26,091,179) | HFE: 26,087,509–26,098,571 | C/G | 0.85 | −0.19 (0.01) | −0.07 (0.01) | −0.23 (0.01) | 0.11 (0.01) |
| 6 | rs1800562* (26,093,141) | HFE: 26,087,509–26,098,571 | A/G | 0.07 | 0.33 (0.02) | 0.20 (0.02) | 0.58 (0.02) | −0.48 (0.02) |
| 22 | rs855791* (37,462,936) | TMPRSS6: 37,461,476–37,505,603 | A/G | 0.45 | −0.18 (0.01) | −0.06 (0.01) | −0.19 (0.01) | 0.04 (0.01) |
| 3 | rs8177240 (133,477,701) | TF: 133,464,800–133,497,850 | T/G | 0.67 | −0.07 (0.01) | 0.10 (0.01) | −0.38 (0.01) | |
| 7 | rs7385804 (100,235,970) | TFR2: 100,218,039–100,240,402 | A/C | 0.62 | 0.06 (0.01) | 0.05 (0.01) | ||
| 9 | rs651007 (136,153,875) | ABO: 136,125,788–136,150,617 | T/C | 0.20 | −0.05 (0.01) | |||
| 17 | rs411988 (56,709,034) | TEX14: 56,634,039–56,769,416 | A/G | 0.46 | −0.04 (0.01) | |||
| 2 | rs744653 (190,378,750) | WDR75: 190,306,159–190,340,291 SLC40A1: 190,425,305–190,448,484 | T/C | 0.85 | −0.09 (0.01) | 0.07 (0.01) | ||
| 3 | rs9990333 (195,827,205) | TFRC: 195,754,054–195,809,060 | T/C | 0.46 | 0.06 (0.01) | |||
| 8 | rs4921915 (18,272,466) | NAT2: 18,248,755–18,258,728 | A/G | 0.78 | 0.08 (0.01) | |||
| 11 | rs6486121 (13,355,770) | ARNTL: 13,298,199–13,408,813 | T/C | 0.63 | −0.05 (0.01) | |||
| 11 | rs174577 (61,604,814) | FADS2: 61,560,452–61,634,826 | A/C | 0.33 | 0.06 (0.01) | |||
*indicates SNPs used for conservative analyses. CHR, chromosome; SNP, single nucleotide polymorphism; GIS, Genetic of Iron Status; SE, standard error; EA, effect allele; OA, other allele; EAF, effect allele frequency.