Table 3.

Associations of variants in ACO1 and relevant hematological case-control phenotypes in the Icelandic–UK meta-study.

Case-control phenotypes
	Persistent anemia (N cases = 21,072), (N controls = 690,293)		Polycythemia (N cases = 38,624), N controls = 672,655)
HGVS/rs name	OR	P	OR	P
p.Cys506Ser	17.1	2.0E−14	0.01	1.0E−03
rs12985	0.95	5.0E−07	1.06	9.0E−09
p.Arg168Trp	0.71	0.01	1.56	4.0E−09
p.Arg802Cys	0.29	0.12	1.31	0.71
rs7045087	1.02	0.2	0.96	9.0E−05
p.Thr208Ala	1.15	0.3	0.59	4.0E−04
p.Asn549Ile	0.77	0.4	1.74	8.0E−06
p.Lys334Ter	1.4	0.7	3.44	4.0E−04

Persistent anemia is where an individual has all hemoglobin concentration measurements below defined threshold of anemia based on gender. The polycythemia phenotype was defined as individuals that were at least once measured to be above the defined threshold of polycythemia based on gender. Controls for both phenotypes were individuals never reaching the hemoglobin threshold level for definition of the phenotype based on gender. N cases is the number of individuals defined to have the phenotype based on hemoglobin measurements (“Methods”). N controls is the number of individuals that do not fulfill the criteria to be defined with the phenotype. Effect is shown in odds ratio for the minor allele. Significance levels and effects are shown for the combined analysis. HGVS is definition the mutation according to the Human Genome Variation Society nomenclature.

OR odds ratio.