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 7 Association between SNPs in/near known hemostatic candidate genes, and the corresponding phenotypes

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

Candidate Gene	SNP	CHR	Physical Position (bp)*	MAF	Position to Gene	Function	Phenotype^†	GEE Association Pvalue
F7	rs561241	13	112,808,035	0.12	NEAR	unknown	FVII, exam 5	4.5 × 10^-16
FGG	rs2066864	4	155,883,300	0.19	IN	intron	Fibrinogen, average	0.239
FGG	rs2066864	4	155,883,300	0.19	IN	intron	Fibrinogen, exam 5	0.711
FGG	rs2066864	4	155,883,300	0.19	IN	intron	Fibrinogen, exam 6	0.095
FGG	rs2066864	4	155,883,300	0.19	IN	intron	Fibrinogen, exam 7	0.586
FGG	rs1074801	4	155,933,889	0.49	NEAR	unknown	Fibrinogen, average	0.667
FGG	rs1074801	4	155,933,889	0.49	NEAR	unknown	Fibrinogen, exam 5	0.898
FGG	rs1074801	4	155,933,889	0.49	NEAR	unknown	Fibrinogen, exam 6	0.521
FGG	rs1074801	4	155,933,889	0.49	NEAR	unknown	Fibrinogen, exam 7	0.608
ITGB3	rs4525555	17	42,692,948	0.31	IN	intron	Platelet Aggregation, ADP, exam 5	0.231
ITGB3	rs4525555	17	42,692,948	0.31	IN	intron	Platelet Aggregation, Collagen, exam 5	0.375
ITGB3	rs4525555	17	42,692,948	0.31	IN	intron	Platelet Aggregation, epinephrine, exam 5	0.292
ITGB3	rs10514919	17	42,697,128	0.24	IN	intron	Platelet Aggregation, ADP, exam 5	0.495
ITGB3	rs10514919	17	42,697,128	0.24	IN	intron	Platelet Aggregation, Collagen, exam 5	0.331
ITGB3	rs10514919	17	42,697,128	0.24	IN	intron	Platelet Aggregation, epinephrine, exam 5	0.302
ITGB3	rs2015729	17	42,709,492	0.36	IN	intron	Platelet Aggregation, ADP, exam 5	0.326
ITGB3	rs2015729	17	42,709,492	0.36	IN	intron	Platelet Aggregation, Collagen, exam 5	0.919
ITGB3	rs2015729	17	42,709,492	0.36	IN	intron	Platelet Aggregation, epinephrine, exam 5	0.963
SERPINE1	rs6950982	7	100,360,038	0.18	NEAR	unknown	PAI1, average	0.187
SERPINE1	rs6950982	7	100,360,038	0.18	NEAR	unknown	PAI1, exam 5	0.035
SERPINE1	rs6950982	7	100,360,038	0.18	NEAR	unknown	PAI1, exam 6	0.688
SERPINE1	rs6956010	7	100,360,470	0.19	NEAR	unknown	PAI1, average	0.218
SERPINE1	rs6956010	7	100,360,470	0.19	NEAR	unknown	PAI1, exam 5	0.053
SERPINE1	rs6956010	7	100,360,470	0.19	NEAR	unknown	PAI1, exam 6	0.740
VWF	rs917858	12	5,952,199	0.32	IN	intron	wVW, exam 5	0.398
VWF	rs917859	12	5,952,374	0.32	IN	intron	wVW, exam 5	0.413
VWF	rs2239138	12	5,952,819	0.32	IN	intron	wVW, exam 5	0.487
VWF	rs216901	12	5,975,129	0.48	IN	intron	wVW, exam 5	0.297
VWF	rs216903	12	5,975,760	0.48	IN	intron	wVW, exam 5	0.316
VWF	rs216904	12	5,976,279	0.34	IN	intron	wVW, exam 5	0.584

* 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.
^††Phenotypes are multivariate adjusted residuals.

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ISSN: 1471-2350

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