Table 1 Validated SNPs associated with... | American Society of Hematology

Table 1

Validated SNPs associated with CML susceptibility

Chromosome	SNP	Position	Gene*	Cohort	P†	Minor/major allele‡	MAF in cases	MAF in controls	OR‡ (95% CI)
6q25.1	rs3900024	151748263	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	4.53 × 10⁻⁴	T/C	0.34	0.45	0.64 (0.51-0.82)
				Validation	9.11 × 10⁻³		0.35	0.43	0.73 (0.57-0.92)
				Combined	2.34 × 10⁻⁵		0.35	0.43	0.70 (0.60-0.83)
				European	1.88 × 10⁻³		0.67	0.75	0.68 (0.54-0.86)
	rs7765741	151758995	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	8.37 × 10⁻⁴	A/G	0.36	0.46	0.66 (0.52-0.84)
				Validation	3.78 × 10⁻³		0.35	0.44	0.70 (0.55-0.89)
				Combined	5.72 × 10⁻⁶		0.35	0.44	0.69 (0.59-0.81)
				European	1.44 × 10⁻³		0.67	0.75	0.68 (0.53-0.85)
	rs6931104	151827870	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	5.53 × 10⁻⁶	C/T	0.25	0.37	0.55 (0.42-0.71)
				Validation	4.97 × 10⁻²		0.27	0.32	0.77 (0.60-1.00)
				Combined	2.84 × 10⁻⁵		0.26	0.34	0.69 (0.58-0.82)
				European	2.29 × 10⁻³		0.50	0.58	0.72 (0.58-0.89)
	rs4869742	151949441	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	4.15 × 10⁻⁴	C/T	0.16	0.25	0.58 (0.43-0.78)
				Validation	2.56 × 10⁻³		0.15	0.23	0.60 (0.44-0.83)
				Combined	2.41 × 10⁻⁶		0.15	0.23	0.60 (0.49-0.74)
				European§
17p11.1	rs33962847	22009077	WSB1, FAM27L	Discovery	1.27 × 10⁻⁵	A/T	0.58	0.45	1.71 (1.35-2.16)
				Validation	7.95 × 10⁻⁷		0.64	0.47	1.97 (1.50-2.58)
				Combined	5.61 × 10⁻¹⁰		0.59	0.46	1.69 (1.43-1.99)
				European	7.88 × 10⁻¹		0.76	0.75	0.97 (0.75-1.24)
	rs7221571	22387781	WSB1, FAM27L	Discovery	8.18 × 10⁻⁶	T/C	0.58	0.44	1.73 (1.37-2.19)
				Validation	3.27 × 10⁻⁸		0.65	0.47	2.07 (1.59-2.71)
				Combined	2.01 × 10⁻¹¹		0.60	0.46	1.74 (1.48-2.05)
				European	2.86 × 10⁻¹		0.27	0.24	1.15 (0.90-1.47)
	rs4795519	22565405	WSB1, FAM27L	Discovery	2.87 × 10⁻⁵	A/C	0.46	0.59	0.60 (0.47-0.75)
				Validation	4.05 × 10⁻⁸		0.33	0.52	0.47 (0.35-0.62)
				Combined	1.29 × 10⁻¹²		0.37	0.52	0.54 (0.46-0.64)
				European	3.58 × 10⁻¹		0.65	0.67	1.11 (0.89-1.40)
5p15.32	rs16875692	5589047	FLJ33360	Discovery	1.57 × 10⁻⁵	A/G	0.07	0.16	0.41 (0.28-0.62)
				Validation	2.11 × 10⁻²		0.09	0.14	0.64 (0.43-0.94)
				Combined	1.09 × 10⁻⁵		0.09	0.15	0.56 (0.43-0.73)
				European	3.69 × 10⁻¹		0.13	0.11	0.86 (0.62-1.20)
5q33.3	rs17055814	157900303	EBF1	Discovery	9.26 × 10⁻⁵	C/T	0.56	0.45	1.59 (1.26-2.01)
				Validation	4.03 × 10⁻²		0.44	0.50	1.28 (1.01-1.62)
				Combined	1.90 × 10⁻⁴		0.56	0.48	1.35 (1.15-1.58)
				European	6.20 × 10⁻¹		0.24	0.23	1.07 (0.83-1.37)

Chromosome	SNP	Position	Gene*	Cohort	P†	Minor/major allele‡	MAF in cases	MAF in controls	OR‡ (95% CI)
6q25.1	rs3900024	151748263	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	4.53 × 10⁻⁴	T/C	0.34	0.45	0.64 (0.51-0.82)
				Validation	9.11 × 10⁻³		0.35	0.43	0.73 (0.57-0.92)
				Combined	2.34 × 10⁻⁵		0.35	0.43	0.70 (0.60-0.83)
				European	1.88 × 10⁻³		0.67	0.75	0.68 (0.54-0.86)
	rs7765741	151758995	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	8.37 × 10⁻⁴	A/G	0.36	0.46	0.66 (0.52-0.84)
				Validation	3.78 × 10⁻³		0.35	0.44	0.70 (0.55-0.89)
				Combined	5.72 × 10⁻⁶		0.35	0.44	0.69 (0.59-0.81)
				European	1.44 × 10⁻³		0.67	0.75	0.68 (0.53-0.85)
	rs6931104	151827870	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	5.53 × 10⁻⁶	C/T	0.25	0.37	0.55 (0.42-0.71)
				Validation	4.97 × 10⁻²		0.27	0.32	0.77 (0.60-1.00)
				Combined	2.84 × 10⁻⁵		0.26	0.34	0.69 (0.58-0.82)
				European	2.29 × 10⁻³		0.50	0.58	0.72 (0.58-0.89)
	rs4869742	151949441	MTHFD1L, AKAP12, ZBTB2, RMND1, C6orf211, C6orf97, ESR1	Discovery	4.15 × 10⁻⁴	C/T	0.16	0.25	0.58 (0.43-0.78)
				Validation	2.56 × 10⁻³		0.15	0.23	0.60 (0.44-0.83)
				Combined	2.41 × 10⁻⁶		0.15	0.23	0.60 (0.49-0.74)
				European§
17p11.1	rs33962847	22009077	WSB1, FAM27L	Discovery	1.27 × 10⁻⁵	A/T	0.58	0.45	1.71 (1.35-2.16)
				Validation	7.95 × 10⁻⁷		0.64	0.47	1.97 (1.50-2.58)
				Combined	5.61 × 10⁻¹⁰		0.59	0.46	1.69 (1.43-1.99)
				European	7.88 × 10⁻¹		0.76	0.75	0.97 (0.75-1.24)
	rs7221571	22387781	WSB1, FAM27L	Discovery	8.18 × 10⁻⁶	T/C	0.58	0.44	1.73 (1.37-2.19)
				Validation	3.27 × 10⁻⁸		0.65	0.47	2.07 (1.59-2.71)
				Combined	2.01 × 10⁻¹¹		0.60	0.46	1.74 (1.48-2.05)
				European	2.86 × 10⁻¹		0.27	0.24	1.15 (0.90-1.47)
	rs4795519	22565405	WSB1, FAM27L	Discovery	2.87 × 10⁻⁵	A/C	0.46	0.59	0.60 (0.47-0.75)
				Validation	4.05 × 10⁻⁸		0.33	0.52	0.47 (0.35-0.62)
				Combined	1.29 × 10⁻¹²		0.37	0.52	0.54 (0.46-0.64)
				European	3.58 × 10⁻¹		0.65	0.67	1.11 (0.89-1.40)
5p15.32	rs16875692	5589047	FLJ33360	Discovery	1.57 × 10⁻⁵	A/G	0.07	0.16	0.41 (0.28-0.62)
				Validation	2.11 × 10⁻²		0.09	0.14	0.64 (0.43-0.94)
				Combined	1.09 × 10⁻⁵		0.09	0.15	0.56 (0.43-0.73)
				European	3.69 × 10⁻¹		0.13	0.11	0.86 (0.62-1.20)
5q33.3	rs17055814	157900303	EBF1	Discovery	9.26 × 10⁻⁵	C/T	0.56	0.45	1.59 (1.26-2.01)
				Validation	4.03 × 10⁻²		0.44	0.50	1.28 (1.01-1.62)
				Combined	1.90 × 10⁻⁴		0.56	0.48	1.35 (1.15-1.58)
				European	6.20 × 10⁻¹		0.24	0.23	1.07 (0.83-1.37)

OR indicates odds ratio; and CI, confidence interval.

The nearest gene to each SNP is underlined.

†

Cochran-Armitage trend test.

‡

Minor alleles were determined in the combined Korean sample.

Excluded because of HWE deviation.

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