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A Common Genetic Polymorphism (46 C to T Substitution) in the
5 -Untranslated Region of the Coagulation Factor XII Gene Is
Associated With Low Translation Efficiency and Decrease in Plasma
Factor XII Level
Taisuke Kanaji,
Takashi Okamura,
Koichi Osaki,
Mika Kuroiwa,
Kazuya Shimoda,
Naotaka Hamasaki, and
Yoshiyuki Niho
From the First Department of Internal Medicine, Faculty of Medicine,
Kyushu University, Fukuoka, Japan; the Department of Clinical Chemistry
and Laboratory Medicine, Faculty of Medicine, Kyushu University,
Fukuoka, Japan.
We studied the Hga I polymorphism (46 C/T) in the
5 -untranslated region of the coagulation factor XII (FXII) gene
corresponding to four bases upstream from the ATG translation
initiation codon. By using allele-specific restriction analysis with
restriction endonuclease Hga I, the allele frequency of 46C/T was
estimated to be 0.27/0.73 in Orientals (allele number =152), and
conversely, 0.8/0.2 in Caucasians (allele number =40). Because it has
been reported that plasma levels of FXII were lower in Orientals than in Caucasians, we investigated the relationship between this
polymorphism and plasma levels of FXII. As a result, there were
significant differences in plasma FXII levels between these three
allele types: C/C,170±38% (178±27%); C/T, 141±29%
(123±34%); and T/T, 82±19% (61±11%) [FXII activity (FXII
antigen levels)]. In heterozygotes of 46 C/T both alleles were equally
transcribed in hepatocytes, as determined by reverse transcription
polymerase chain reaction (RT-PCR), suggesting little influence of the
polymorphism at the level of transcription or on the stability of mRNA.
In in vitro transcription/translation analysis, less FXII was produced
from cDNA containing 46 T than from that containing 46 C. Therefore, it
is highly likely that the 46 T polymorphism in the FXII gene decreased
the translation efficiency and led to low plasma levels of FXII
activity and antigen, probably due to the creation of another ATG codon
and/or impairment of the consensus sequence for the translation
initiation scanning model.
Blood, Vol. 91 No. 6 (March 15), 1998:
pp. 2010-2014
© 1998 by The American Society of Hematology.
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