M385T polymorphism in the factor V gene, but not Leiden mutation, is associated with placental abruption in Finnish women

• Published in: Placenta (Eastbourne) Vol. 25; no. 8; pp. 730 - 734
• Main Authors: Jääskeläinen, E., Toivonen, S., Romppanen, E.-L., Helisalmi, S., Keski-Nisula, L., Punnonen, K., Heinonen, S.
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier Ltd 01.09.2004; Elsevier
• Subjects: Abruptio Placentae - epidemiology; Abruptio Placentae - genetics; Abruptio Placentae - pathology; Adult; Biological and medical sciences; Embryology: invertebrates and vertebrates. Teratology; Factor V - genetics; Female; Finland - epidemiology; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic Predisposition to Disease; Haplotypes; Humans; Point Mutation - genetics; Polymorphism, Genetic - genetics; Pregnancy; Retrospective Studies; Finland; Human; Thrombophilia; Vertebrata; Factor V Leiden; Mammalia; Placenta; Fetal membrane; Female; Mutation; Polymorphism
• ISSN: 0143-4004; 1532-3102
• DOI: 10.1016/j.placenta.2004.02.006

This study determines whether genetic variability in the gene encoding factor V contributes to differences in susceptibility to placental abruption. Allele and genotype frequencies of three single nucleotide polymorphisms (SNPs) in the factor V gene leading to nonsynonymous changes (M385T in exon 8, and R485K and R506Q [Leiden mutation] in exon 10) were studied in 116 Caucasian women with placental abruption and 112 healthy controls. Single-point analysis was expanded to haplotype analysis and haplotype frequencies were estimated using an expectation-maximisation (EM) algorithm. Comparison of single-point allele and genotype distributions of SNPs in exon 8 and exon 10 of the factor V gene revealed statistically significant differences in M385T allele ( P=0.021) and genotype ( P=0.013) frequencies between the patients and the control subjects. The C allele of SNP M385T was significantly less frequent among the patients (7%) vs. the control subjects (13%), at an odds ratio of 0.48 (95% CI 0.25–0.91). Allele and genotype differences between the patients and control subjects as regards R485K and Leiden mutation were not significant. In haplotype estimation analysis, there was a significantly lower frequency of haplotype T-R-R encoding the T385–R485–R506 variant in the group with placental abruption vs. the control group ( P=0.038) at an odds ratio of 0.519 (95% CI 0.272–0.987). We conclude that T385 is less frequent among the patient group than in the control group. The M385T variant in the factor V gene other than the Leiden mutation may play a role in disease susceptibility.