A variety of patients with myeloproliferative disorders were profiled, sorted by self-reported disease status. Out of 164 genotyped individual with polycythaemia vera 84% carried the variant — 26 did not have the mutation, 80 were heterozygous, and 41 homozygous (presumably due to loss of heterozygosity). Of 115 genotyped with essential thrombocythemia 32% carried the variant — 78 did not have the mutation, 34 were heterozygous, and 3 were homozygous. Of 46 with myeloid metaplasia with myelofibrosis 35% carried the variant — 30 did not have the mutation, 12 were heterozygous, and 4 were homozygous.
In addition, the study genotyped this position in 269 samples from a panel collected by the International HapMap Consortium, all were homozygous for the wild-type variant. However, many of these were trios, only 420 of the 540 chromosomes tested were independent (120 from Utah NW European, 120 from Nigeria Yoruban, 90 from Han Chinese, 90 from Japanese) — assuming the one failed test accounts for a single individual, this represents 418 unrelated chromosomes found to carry the wild-type variant (equivalent to 209 individuals).