1. Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants
- Author
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Tokio Sugiura, Takao Yokoyama, Hajime Togari, Hiroko Maniwa, Kohachiro Sugiyama, Koichi Ito, Toshihiro Ando, Kanji Muramatsu, and Kenji Goto
- Subjects
Male ,medicine.medical_specialty ,Vitamin K ,Genotype ,Birth weight ,Gestational Age ,Biology ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,chemistry.chemical_compound ,Sex Factors ,Gene Frequency ,Oral administration ,Internal medicine ,medicine ,Birth Weight ,Humans ,Allele ,Blood Coagulation ,Genetics ,Polymorphism, Genetic ,Factor VII ,Body Weight ,Infant, Newborn ,Infant ,Gestational age ,General Medicine ,Vitamin K Deficiency Bleeding ,Blood Coagulation Factors ,Bottle Feeding ,Glutamine ,Breast Feeding ,chemistry ,Coagulation ,Regression Analysis ,Female ,Vitamin K Deficiency ,Blood Coagulation Tests - Abstract
Despite administration of vitamin K (VK), some infants show lower activity of VK-dependent coagulation factors and they could develop intracranial hemorrhage. For preventing VK deficiency bleeding (VKDB) in infants, oral administration of VK and a screening test for VK deficiency are carried out in Japan. For the screening, the total activity of VK-dependent coagulation factors is measured using a commercial product, Normotest. This study was undertaken to clarify the importance of the following genetic and environmental factors on the coagulation status in one-month-old infants: two polymorphisms in the factor VII gene, -323P0/10 (a 10-bp insertion in the promoter region at position -323) and R353Q (the replacement of arginine [R] with glutamine [Q] at residue 353) and sex, age, gestational age, birth weight, and feeding regimen. Two hundred Japanese infants (34.6 +/- 4.0 days old) were screened for VK-dependent coagulation activity with Normotest and were genotyped for the two polymorphisms. Among the subjects screened, 18 infants (9%) carried the P10 allele and 26 (13%) carried the R353Q allele. Multiple regression analysis showed that the 10-bp inserted (P10) allele or the Q allele was associated with the lower coagulation activities. The coagulation activities for the R/Q genotype were significantly lower than those for the R/R genotype and those for the P0/P10 genotype were significantly lower than those for the P0/P0 genotype. Therefore, infants who carry the P10 allele or the Q allele show lower activity of VK-dependent coagulation factors. These infants may have a higher risk of VKDB manifestation.
- Published
- 2007