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. Author manuscript; available in PMC: 2016 Jun 3.
Published in final edited form as: Hepatology. 2011 Jan 10;53(2):389–395. doi: 10.1002/hep.24068

Table 1.

Predicted Levels of ITPase Deficiency According to the ITPA Haplotype

rs1127354 rs7270101 Prediction
ITPase Activity (%) ITPase Deficiency
Wild type (C/C) Wild type (A/A) 100 –
Wild type (C/C) Heterozygosity (A/C)   60 +
Heterozygosity (C/A) Wild type (A/A)   30 ++
Wild type (C/C) Homozygosity (C/C)   30 ++
Heterozygosity (C/A) Heterozygosity (A/C)   10 +++
Homozygosity (A/A) Wild type (A/A)   <5 +++

The levels of ITPase deficiency predicted according to the ITPA haplotype and in vitro studies5–8,10 are presented. ITPase activity was defined as the accumulated presence of minor alleles at the respective polymorphic sites [the minor alleles for both SNPs never occurred together on the same chromosome (3)].10