Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study

Yang, Qiong; Kathiresan, Sekar; Lin, Jing-Ping; Tofler, Geoffrey H; O'Donnell, Christopher J

doi:10.1186/1471-2350-8-S1-S12

Table 8 Association between hematological phenotypes and SNPs in/near known candidate genes

From: Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study

							GEE Association Test P-values^††
Candidate Gene	SNP	CHR	Physical Position (bp)*	MAF	Position to Gene^†	Function	Hematocrit	Hgb	MCH	MCV	RBCC
EPB41L2	rs7741731	6	131,152,063	0.17	NEAR	unknown	0.488	0.326	0.847	0.549	0.163
EPB41L2	rs1582055	6	131,186,056	0.3	NEAR	unknown	7.7 × 10^-5	2.9 × 10^-4	0.427	0.762	3.9 × 10^-4
EPB41L2	rs1413753	6	131,192,197	0.34	NEAR	intron	0.003	0.007	0.691	0.730	0.007
EPB41L2	rs1413754	6	131,192,319	0.3	NEAR	intron	0.242	0.158	0.561	0.039	0.016
EPB41L2	rs4075265	6	131,208,150	0.33	IN	untranslated	0.001	0.004	0.470	0.506	0.002
EPB41L2	rs915171	6	131,226,607	0.26	IN	intron	0.712	0.486	0.355	0.232	0.273
EPB41L2	rs9285468	6	131,233,823	0.33	IN	intron	0.003	0.005	0.437	0.921	0.022
EPB41L2	rs6938586	6	131,251,097	0.18	IN	intron	0.878	0.511	0.578	0.661	0.951
EPB41L2	rs3777442	6	131,251,481	0.48	IN	intron	0.017	0.124	0.834	0.568	0.044
EPB41L2	rs4897472	6	131,254,831	0.49	IN	intron	0.002	0.022	0.972	0.551	0.009
EPB41L2	rs4897475	6	131,274,643	0.28	IN	intron	1.6 × 10^-4	6.0 × 10^-4	0.633	0.485	0.011
EPB41L2	rs1334689	6	131,275,701	0.31	IN	intron	0.001	0.005	0.703	0.639	0.020
EPB41L2	rs7748468	6	131,297,742	0.3	IN	intron	0.002	0.005	0.616	0.956	0.009
EPB41L2	rs2105250	6	131,325,875	0.28	IN	unknown	0.013	0.002	0.050	0.696	0.076
EPB41L2	rs9321263	6	131,340,606	0.33	IN	unknown	0.461	0.137	0.188	0.095	0.056
EPB41L2	rs1811949	6	131,340,872	0.32	IN	unknown	0.511	0.210	0.176	0.119	0.076
EPB41L2	rs9321265	6	131,345,926	0.14	IN	unknown	0.985	0.909	0.734	0.941	0.896
EPB41L2	rs7761311	6	131,352,801	0.37	IN	unknown	0.986	0.553	0.202	0.066	0.143
EPB41L2	rs1412540	6	131,368,085	0.24	IN	unknown	0.006	0.006	0.356	0.725	0.008
EPB41L2	rs6907809	6	131,374,355	0.21	IN	unknown	0.739	0.928	0.153	0.049	0.281
EPB41L2	rs951251	6	131,432,905	0.15	NEAR	unknown	0.851	0.789	0.419	0.009	0.075
HBB, HBD	rs4128714	11	5,151,240	0.25	NEAR	unknown	0.557	0.402	0.345	0.175	0.431
HBB, HBD, HBG1, HBG2, HBE1	rs2105819	11	5,216,303	0.46	NEAR	unknown	0.007	0.039	0.128	0.027	0.463
HBB, HBD, HBG1, HBG2, HBE1	rs968856	11	5,217,152	0.47	NEAR	unknown	0.013	0.049	0.202	0.016	0.576
HBB, HBD, HBG1, HBG2, HBE1	rs10488676	11	5,225,373	0.48	NEAR	unknown	0.051	0.134	0.174	0.047	0.735
HBB, HBD, HBG1, HBG2, HBE1	rs10488675	11	5,254,606	0.27	NEAR	unknown	0.050	0.180	0.798	0.077	0.920
HBG1, HBG2, HBE1	rs3898916	11	5,284,996	0.38	NEAR	unknown	0.089	0.165	0.353	0.260	0.367
HEBP2	rs10499199	6	138,811,539	0.16	NEAR	intron	0.503	0.585	0.557	0.412	0.972
HEBP2	rs10499200	6	138,813,645	0.16	NEAR	intron	0.706	0.742	0.535	0.382	0.793
HEBP2	rs10499201	6	138,818,107	0.16	NEAR	intron	0.633	0.725	0.487	0.414	0.897
HEBP2	rs6902919	6	138,819,479	0.21	NEAR	intron	0.789	0.977	0.225	0.148	0.541
HEBP2	rs6926204	6	138,820,053	0.16	NEAR	intron	0.887	0.979	0.429	0.381	0.660

* Physical position is in base pair (bp) and based on the May 2004 human reference sequence (NCBI Build 35).
^†'NEAR' means within 60 kb to a gene; 'IN' means within a gene.
^†† The p-values are from the GEE association test on multivariable adjusted phenotypes listed below.

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