Table 4 Associations of MBL risk with... | American Society of Hematology

Table 4

Associations of MBL risk with replicated SNPs in 60 familial MBL cases and 965 controls

Locus	Nearest gene	SNP	Position	Allele frequency		OR	95% CI		P
Locus	Nearest gene	SNP	Position	Cases	Controls	OR	95% CI		P
2q13	ACOXL	rs17483466	111513929	0.30	0.22	1.49	0.99	2.24	0.074
2q37.1	SP140	rs13397985	230799467	0.30	0.21	1.56	1.05	2.31	0.041
6p25	IRF4	rs872071	356064	0.47	0.48	0.97	0.66	1.42	0.878
	IRF4	rs9378805	362727	0.50	0.49	1.03	0.71	1.50	0.877
6p21.3	HLA-DRB5	rs615672	32682149	0.46	0.39	1.27	0.91	1.78	0.198
	HLA-DRB5	rs674313	32686060	0.37	0.26	1.57	1.08	2.29	0.028
	HLA-DRB5	rs502771	32686948	0.38	0.28	1.53	1.06	2.21	0.037
	HLA-DQA1	rs9272219	32710247	0.38	0.27	1.61	1.11	2.34	0.020
	HLA-DQA1	rs9272535	32714734	0.38	0.27	1.62	1.12	2.35	0.017
11q24	SF3A3P2	rs12799226*	122895435	0.28	0.25	1.15	0.77	1.72	0.533
15q23		rs7176508	67806044	0.48	0.41	1.29	0.90	1.85	0.204
16q24.1	IRF8	rs305077	84500967	0.25	0.33	0.68	0.44	1.03	0.094
	IRF8	rs391525	84501940	0.25	0.33	0.67	0.44	1.03	0.090
	IRF8	rs2292982	84502324	0.25	0.33	0.67	0.44	1.03	0.091
	IRF8	rs2292980	84502577	0.25	0.33	0.68	0.45	1.04	0.100
19q13		rs11083846	51899494	0.24	0.22	1.10	0.71	1.69	0.696

Locus	Nearest gene	SNP	Position	Allele frequency		OR	95% CI		P
Locus	Nearest gene	SNP	Position	Cases	Controls	OR	95% CI		P
2q13	ACOXL	rs17483466	111513929	0.30	0.22	1.49	0.99	2.24	0.074
2q37.1	SP140	rs13397985	230799467	0.30	0.21	1.56	1.05	2.31	0.041
6p25	IRF4	rs872071	356064	0.47	0.48	0.97	0.66	1.42	0.878
	IRF4	rs9378805	362727	0.50	0.49	1.03	0.71	1.50	0.877
6p21.3	HLA-DRB5	rs615672	32682149	0.46	0.39	1.27	0.91	1.78	0.198
	HLA-DRB5	rs674313	32686060	0.37	0.26	1.57	1.08	2.29	0.028
	HLA-DRB5	rs502771	32686948	0.38	0.28	1.53	1.06	2.21	0.037
	HLA-DQA1	rs9272219	32710247	0.38	0.27	1.61	1.11	2.34	0.020
	HLA-DQA1	rs9272535	32714734	0.38	0.27	1.62	1.12	2.35	0.017
11q24	SF3A3P2	rs12799226*	122895435	0.28	0.25	1.15	0.77	1.72	0.533
15q23		rs7176508	67806044	0.48	0.41	1.29	0.90	1.85	0.204
16q24.1	IRF8	rs305077	84500967	0.25	0.33	0.68	0.44	1.03	0.094
	IRF8	rs391525	84501940	0.25	0.33	0.67	0.44	1.03	0.090
	IRF8	rs2292982	84502324	0.25	0.33	0.67	0.44	1.03	0.091
	IRF8	rs2292980	84502577	0.25	0.33	0.68	0.45	1.04	0.100
19q13		rs11083846	51899494	0.24	0.22	1.10	0.71	1.69	0.696

OR indicates odds ratio; and CI, confidence interval.

rs12799226 SNP is correlated with rs735665 (r² = 0.72); rs735665 failed genotyping in replication cohort.