title: Genotyping analysis of the factor V Nara mutation, Hong Kong mutation, and 16 single-nucleotide polymorphisms, including the R2 haplotype, and the involvement of factor V activity in patients with recurrent miscarriage.
abstract: : Recurrent miscarriage can arise from a large diversity of causes and the factors responsible have not been fully clarified. The coagulation factor V R506Q (Leiden) mutation is a well known risk factor for recurrent miscarriage, although it has not been found in Japanese populations. We examined whether the factor V Nara and Hong Kong mutations, the factor V gene (F5) 16 single-nucleotide polymorphisms (SNPs), including the factor V R2 haplotype, and plasma factor V activity (FV:C) were risk factors for recurrent miscarriage. A cross-sectional study was conducted among 88 patients with a history of unexplained recurrent miscarriage and 95 fertile controls. None of the patients or controls was homozygous or heterozygous for the factor V Nara or Hong Kong mutation. In the 16 SNPs of F5, frequencies of the G/T and T/T genotypes at Ser156Ser were significantly lower in patients than in controls (OR 0.45, 95% CI 0.22-0.91, OR 0.32, 95% CI 0.14-0.72) and the allele frequency of C at Leu1288Leu was significantly higher in patients than that in controls (OR 1.66, 95% CI 1.02-2.71). The mean FV:C values were not significantly different between patients and controls. However, the prevalence of patients with a high or low FV:C (>95th or <fifth percentile) was significantly greater than the controls (OR 3.59, 95% CI 1.11-11.60: OR 3.94, 95% CI 1.23-12.60). These results suggest that some SNPs of F5 and a high or low FV:C level might be associated with recurrent miscarriage.
authors.affiliation: aDepartment of Obstetrics and Gynecology, Nagoya City University, Graduate School of Medical Sciences bDepartment of Molecular Genetics of Coagulation Disorders, Nagoya cDepartment of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.
authors.forename: Mari
authors.initials: M
authors.lastname: Izuhara
authors.forename: Keiko
authors.initials: K
authors.lastname: Shinozawa
authors.forename: Tamao
authors.initials: T
authors.lastname: Kitaori
authors.forename: Kinue
authors.initials: K
authors.lastname: Katano
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Ozaki
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Fukutake
authors.forename: Mayumi
authors.initials: M
authors.lastname: Sugiura-Ogasawara
mesh_terms: D000026:Abortion, Habitual / Q000209:etiology / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D015995:Prevalence
chemical_list: D005165:Factor V