Page 159 - Ebook-Book JCMS 2025

The Impact of Factor 7 Nucleotide Polymorphisms on the
Plasma Level of Factor VII Clotting Activity
Apiwat Akarapattananukul1, Usanarat Anurathapan1,*, Ampaiwan Chuansumrit1, Thipwimol Timaroon1
,
Tanyanee Khlangtan1, Jakris Eu-ahsunthornwattana2, Rungrote Natesirinilkul3
1 Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University
2 Department of Community Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University
3 Department of Pediatrics, Faculty of Medicine, Chiang Mai University
Background: Objectives: *Corresponding Author E-mail: usanarat.anu@mahidol.ac.th
Abstract
Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder
inherited by autosomal recessive mutations on the F7 gene. In addition, six nucleotide
polymorphisms (NPs), including -670A/C, -402G/A, -401G/T, -323P0/P10, 73G/A and
413G/A, on the F7 gene influencing FVII clotting activity (FVII:C) were reported but study
in Thailand is limited.
To determine the frequency of six NPs among patients with congenital FVII deficiency,
carriers and healthy individuals and to assess their impacts on the levels of FVII:C.
Methods: Results: Conclusion: A descriptive and cross-sectional study was conducted. Demographic data and bleeding
history were collected. Patients and carriers with identified F7 mutations and healthy
individuals were included. Additional DNA analysis for six NPs was performed. FVII:C was
measured by a standard coagulation method.
A total of 127 subjects including 22 patients, 35 carriers and 70 healthy individuals were
enrolled. The allele frequencies of six NPs were significantly different among these 3 groups.
-670A/C (39.3%) and -402G/A (38.6%) were more common among healthy individuals,
whereas -401G/T, -323P0/P10, 73G/A and 413G/A were significantly more common among
patients and carriers. Univariate linear regression analysis showed that subjects with
-670A/C (β=24.87) and -402G/A (β=25.70) polymorphisms had higher FVII:C but subjects
with -401G/T, -323P0/P10 and 73G/A (β=-53.08), and 413G/A (β=-54.29) had lower FVII:C.
However, multivariate regression analysis did not show statistical significance.
This study identified frequencies of six NPs influencing FVII:C. DNA analysis determining
mutations and NPs on the F7 gene is suggested for patients with congenital factor VII
deficiency and carriers.
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