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Blood, Vol. 93 No. 3 (February 1), 1999:
pp. 897-905
Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific
Normal Polymorphisms Are Associated With High or Low Factor XIII
Specific Activity
Rashida Anwar,
Louise Gallivan,
Stuart D. Edmonds, and
Alexander
F. Markham
From the Molecular Medicine Unit, University of Leeds, St James's
University Hospital, Leeds, UK.
Factor XIII is a transglutaminase essential for normal hemostasis.
We have studied the plasma FXIII levels and FXIII activity in 71 individuals and found these to be normally distributed. FXIII specific
activity is also normally distributed. However, we show that FXIII
activity is not directly dependent on FXIII levels, and individuals
with low FXIII levels may have high FXIII activity and vice versa. We
have determined the FXIIIA genotype in these individuals to assess
whether the variation observed in FXIII specific activity is dependent
on specific polymorphisms in the FXIIIA gene. Our data show that the
Leu34 and Leu564 variants give rise to increased FXIII specific
activity, while the Phe204 variant results in lower FXIII specific
activity. We also report preliminary evidence that the Phe204
polymorphism may be associated with recurrent miscarriage. Overall, we
have identified 23 unique FXIIIA genotypes. Certain specific FXIIIA
genotypes consistently give rise to high, low, or median FXIII specific
activity levels, while others appear to have little or no consistent
influence on the FXIII phenotype. These genotype to phenotype
relationships are discussed in light of the growing interest in the
role of FXIII in clinical problems involving an increased thrombotic tendency.
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