Table 2 Significant SNPs in CSSCD and... | American Society of Hematology

Table 2

Significant SNPs in CSSCD and consistent associations in the replication set

Chromosome	SNP	Base pair units	Minor allele	YRI	CEU	Gene name	CSSCD			Replication			Combined		CSSCD mean HbF			Replication mean HbF
Chromosome	SNP	Base pair units	Minor allele	YRI	CEU	Gene name	Frequency of minor allele	β	P	Frequency of minor allele	β	P	β	P	G11	G12	G22	G11	G12	G22
2	rs6732518	60562101	G	0.29	0.24	BCL11A	0.33	0.13	1.59E−07	0.32	0.08	.036	0.12	2.87E−09	8.26	7.32	5.56	6.87	5.75	5.25
2	rs766432	60573474	C	0.25	0.12	BCL11A	0.28	0.24	2.61E−21	0.27	0.20	9.99E−08	0.23	1.33E−29	10.07	7.77	5.19	8.43	6.36	4.59
11	rs4910755	5329327	C	0.27	0.22	OR51B5; OR51B6	0.15	0.16	4.51E−07	0.14	0.10	.040	0.14	9.17E−08	8.07	8.14	6.09	6.49	6.47	5.42
11	rs4910756	5329432	G	0.01	0.17	OR51B5; OR51B6	0.12	0.16	4.95E−06	0.12	0.11	.031	0.14	5.94E−07	9.19	8.00	6.23	5.90	6.66	5.32
11	rs7483122	5329582	G	0.01	0.21	OR51B5; OR51B6	0.14	0.17	6.86E−07	0.15	0.07	.115	0.13	6.76E−07	8.05	8.14	6.09	6.49	6.15	5.44
11	rs5006884	5329827	A	0.25	0.22	OR51B5; OR51B6	0.13	0.20	4.73E−08	0.13	0.09	.066	0.16	2.72E−08	10.58	8.17	6.09	6.23	6.32	5.38
11	rs5006883	5329887	G	—	0.20	OR51B5; OR51B6	0.11	0.16	7.81E−06	0.13	0.10	.032	0.14	1.54E−06	8.52	8.14	6.22	6.49	6.62	5.35
11	rs5024042	5330138	A	0.26	0.22	OR51B5; OR51B6	0.14	0.16	6.03E−07	0.15	0.10	.031	0.14	1.03E−07	8.07	8.11	6.09	6.80	6.36	5.37
11	rs10500635	5343244	A	0.27	0.22		0.15	0.16	4.90E−07	0.15	0.09	.045	0.14	1.26E−07	8.07	8.14	6.09	6.80	6.25	5.39
11	rs416586	5450133	G	0.40	0.24		0.18	0.13	8.65E−06	0.17	0.11	.020	0.12	5.71E−07	11.01	7.06	6.21	5.14	6.92	5.11

Chromosome	SNP	Base pair units	Minor allele	YRI	CEU	Gene name	CSSCD			Replication			Combined		CSSCD mean HbF			Replication mean HbF
Chromosome	SNP	Base pair units	Minor allele	YRI	CEU	Gene name	Frequency of minor allele	β	P	Frequency of minor allele	β	P	β	P	G11	G12	G22	G11	G12	G22
2	rs6732518	60562101	G	0.29	0.24	BCL11A	0.33	0.13	1.59E−07	0.32	0.08	.036	0.12	2.87E−09	8.26	7.32	5.56	6.87	5.75	5.25
2	rs766432	60573474	C	0.25	0.12	BCL11A	0.28	0.24	2.61E−21	0.27	0.20	9.99E−08	0.23	1.33E−29	10.07	7.77	5.19	8.43	6.36	4.59
11	rs4910755	5329327	C	0.27	0.22	OR51B5; OR51B6	0.15	0.16	4.51E−07	0.14	0.10	.040	0.14	9.17E−08	8.07	8.14	6.09	6.49	6.47	5.42
11	rs4910756	5329432	G	0.01	0.17	OR51B5; OR51B6	0.12	0.16	4.95E−06	0.12	0.11	.031	0.14	5.94E−07	9.19	8.00	6.23	5.90	6.66	5.32
11	rs7483122	5329582	G	0.01	0.21	OR51B5; OR51B6	0.14	0.17	6.86E−07	0.15	0.07	.115	0.13	6.76E−07	8.05	8.14	6.09	6.49	6.15	5.44
11	rs5006884	5329827	A	0.25	0.22	OR51B5; OR51B6	0.13	0.20	4.73E−08	0.13	0.09	.066	0.16	2.72E−08	10.58	8.17	6.09	6.23	6.32	5.38
11	rs5006883	5329887	G	—	0.20	OR51B5; OR51B6	0.11	0.16	7.81E−06	0.13	0.10	.032	0.14	1.54E−06	8.52	8.14	6.22	6.49	6.62	5.35
11	rs5024042	5330138	A	0.26	0.22	OR51B5; OR51B6	0.14	0.16	6.03E−07	0.15	0.10	.031	0.14	1.03E−07	8.07	8.11	6.09	6.80	6.36	5.37
11	rs10500635	5343244	A	0.27	0.22		0.15	0.16	4.90E−07	0.15	0.09	.045	0.14	1.26E−07	8.07	8.14	6.09	6.80	6.25	5.39
11	rs416586	5450133	G	0.40	0.24		0.18	0.13	8.65E−06	0.17	0.11	.020	0.12	5.71E−07	11.01	7.06	6.21	5.14	6.92	5.11

Significant SNPs (P < 10E−06) in CSSCD for the additive model with consistent associations in the replication set. For SNPs common to the CSSCD and the replication set arrays, the data were combined and analyzed jointly. The combined analysis has similar β estimates and smaller P values than the individual analyses, showing that the associations are consistent in both studies. G11, G12, and G22 refer to the homozygous genotype for the minor allele, the heterozygous genotype, and the homozygous genotype for the major allele.

— indicates not applicable.

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