. 2022 Jun 16;5:591. doi: 10.1038/s42003-022-03529-z

Table 1.

Novel loci associated with the iron status biomarkers serum iron, TSP, and TIBC in a genome-wide association meta-analysis.

Trait	rsID-Alt	Effect	SE	P-value	MAF	Nearest gene(s)	Consequence	N	Studies
TIBC	rs514595-C	0.03	0.005	6.5E−10	0.155	AKR1A1;NASP		208,422	H;M;S;dC;I
TIBC S-Iron	rs137891701-D rs61804206-G	0.04 0.03	0.006 0.005	4.9E−9 4.7E−10	0.129 0.142	SDHC;FCGR2A RPL3P1P11;FCRLA	R² = 1.00 w/missense	202,496 236,612	H;M;dC;I H;M;S;dC;I
TIBC	rs1435167-A	−0.02	0.004	1.6E−10	0.373	EGLN1	R² = 0.89 w/missense	208,422	H;M;S;dC;I
S-Iron	rs7580634-T	−0.02	0.003	4.7E−10	0.464	IL1F10;IL1RN		236,612	H;M;S;dC;I
TIBC	rs11900910-T	0.02	0.004	2.1E−11	0.451	EPAS1		208,422	H;M;S;dC;I
TIBC	rs1861408-T	0.02	0.004	7.8E−10	0.297	SERTAD2;LINC01800		208,422	H;M;S;dC;I
TIBC	rs715-C	0.02	0.004	4.5E−10	0.285	CPS1	R² = 0.92 w/missense	202,496	H;M;S;dC;I
TIBC	rs781168893-T	−0.75	0.064	2.1E−31	0.003	SLC12A8;ZNF148		56,667	H
S-Iron	rs571559677-C	−0.35	0.063	3.1E−8	0.002	CLSTN2		67,171	H;M
TIBC	rs760897340-G	−0.97	0.104	7.5E−21	0.001	DIPK2A;LNCSRLR		56,667	H
TIBC	rs969672878-A	−0.90	0.103	2.3E−18	0.001	LOC440982;LINC02032		56,667	H
TSP	rs218264-T	0.02	0.004	4.2E−8	0.250	LINC02283;LINC02260		198,516	H;M;dC;I
TIBC	rs185240714-A	−0.07	0.009	2.4E−13	0.040	PELO		204,433	H;M;dC;I
TIBC	rs41274050-T	0.13	0.022	4.8E−9	0.008	A1CF		202,496	H;M;dC;I
S-Iron TIBC	rs10740134-C rs10740134-C	0.02 0.02	0.003 0.004	7.8E−11 8.9E−10	0.487 0.487	REEP3 REEP3	R² = 0.96 w/missense R² = 0.96 w/missense	236,612 198,516	H;M;S;dC;I H;M;dC;I
S-Iron	rs59213222-D	−0.03	0.005	9.3E−9	0.223	ZMIZ1		230,682	H;M;S;dC;I
TIBC	rs143878994-A	0.05	0.009	3.6E−8	0.046	ARHGAP20		202,496	H;M;S;dC;I
TIBC	rs76895963-G	−0.08	0.015	4.2E−8	0.017	CCND2-AS1		202,496	H;M;S;dC;I
TIBC	rs3782735-A	0.02	0.004	2.4E−9	0.402	LAG3		202,496	H;M;S;dC;I
S-Iron TSP	rs2900478-A rs2900478-A	−0.02 −0.03	0.004 0.005	3.9E−8 1.4E−10	0.178 0.179	SLCO1B1 SLCO1B1	R² = 0.90 w/missense R² = 0.90 w/missense	236,612 198,516	H;M;S;dC;I H;M;dC;I
TIBC	rs1150975-A	0.02	0.004	4.1E−8	0.347	LINC02422;RESF1		202,496	H;M;S;dC;I
TIBC	rs77371258-A	0.04	0.006	3.5E−13	0.099	POP5;CABP1	R² = 0.88 w/missense	202,496	H;M;S;dC;I
S-Iron	rs4759827-T	−0.02	0.004	1.5E−8	0.279	ADGRD1		236,612	H;M;S;dC;I
S-Iron TSP	rs1958078-C rs1958078-C	0.04 0.04	0.005 0.005	1.0E−14 1.7E−11	0.135 0.131	SMOC1 SMOC1		236,612 198,516	H;M;S;dC;I H;M;dC;I
TIBC	rs12879801-G	0.03	0.004	1.5E−17	0.452	ADAM21P1;SYNJ2BP-COX16		202,496	H;M;S;dC;I
TIBC	rs11159099-G	−0.03	0.004	5.2E−16	0.482	YLPM1		202,496	H;M;S;dC;I
TIBC	rs8062982-C	0.03	0.004	6.7E−12	0.401	CHD9;LOC643802		202,496	H;M;S;dC;I
TIBC	rs34682685-A	0.04	0.006	1.2E−12	0.100	HPR		202,496	H;M;S;dC;I
TIBC	rs2287322-G	0.03	0.004	8.9E−13	0.239	WDR81	R² = 0.97 w/missense	202,496	H;M;S;dC;I
TIBC	rs1292072-G	0.03	0.004	5.0E−11	0.224	VMP1;TUBD1		202,496	H;M;S;dC;I
TIBC	rs34284056-A	−0.02	0.004	1.6E−8	0.264	ZCCHC2		202,496	H;M;S;dC;I
TIBC	rs111234557-G	−0.03	0.006	4.0E−9	0.121	MAU2		202,496	H;M;S;dC;I
TIBC	rs12976652-C	−0.05	0.006	6.5E−18	0.105	MYPOP		202,496	H;M;S;dC;I
S-Iron TIBC	rs1800961-T rs1800961-T	0.04 0.05	0.008 0.009	2.4E−8 4.0E−9	0.047 0.047	HNF4A HNF4A	Missense Missense	236,612 202,496	H;M;S;dC;I H;M;S;dC;I
S-Iron TSP	rs3747207-A rs3747207-A	0.03 0.02	0.004 0.004	1.7E−12 1.1E−8	0.234 0.233	PNPLA3 PNPLA3	R² = 1.00 w/missense R² = 1.00 w/missense	236,612 198,516	H;M;S;dC,I H;M;dC;I

Associated traits: Serum iron (S-iron), Transferrin Saturation Percentage (TSP), Total Iron Binding Capacity (TIBC). Locus index variant with alternate allele/indel (rsID-Alt, D = deletion) per associated trait. Effect size and direction (Effect) with standard error (SE) and functional consequence (correlation R² reported if index variant is strongly correlated (R² > 0.8) with a missense variant.) is given for the alternate variant. Minor allele frequency (MAF), sample size (N), studies: HUNT (H), MGI (M), deCODE (dC), Interval (I), SardiNIA (S), DBDS (D). See Supplementary Data 1 for further details.