title: Association of factor V gene polymorphisms (Leiden; Cambridge; Hong Kong and HR2 haplotype) with recurrent idiopathic pregnancy loss in Tunisia. A case-control study.
abstract: Inherited thrombophilia has been shown to be linked with fetal loss. We performed a case-control study on the association between thrombosis-related polymorphisms in the factor V (FV) gene (Leiden, Cambridge, Hong Kong; HR2 haplotype) and idiopathic recurrent pregnancy loss (RPL) in Tunisian women. A total of 348 women with RPL, and 203 control women were studied, corresponding to 1,250 pregnancy losses and 1,200 successful pregnancies. FV Leiden was seen in 19.4% of patients (4.3% in the homozygous state) and in 5.5% of controls. The prevalence of the FV HR2 haplotype was similar in patients and controls, but with 7 homozygous patients for 1 control. FV Cambridge and Hong Kong were absent from both patients and controls. The study of all pregnancy losses evidenced that the frequency of the factor V Leiden polymorphism was zero in women who had mis-carried before 7 weeks of gestation, and then sharply increased to a plateau. After categorization of pregnancy losses (before 8 weeks of gestation; weeks 8 and 9; weeks 10 to 12; from the 13th week of gestation onwards), heterozygous and homozygous factor V Leiden polymorphisms, and homozygous FV HR2 haplotype, were associated with significant and independent risks of pregnancy loss during weeks 8 and 9, which increased during weeks 10 to 12, then culminated after week 12. In Tunisian women with idiopathic RPL, factor V Leiden polymorphism and homozygous FV HR2 haplotype are not a risk factor for very early pregnancy loss, before 8 weeks of gestation, but are thereafter associated with significant clinical risks, which gradually increase from the 8th week onwards.
authors.affiliation: Research Unit of Haematological and Autoimmune Diseases, Faculty of Pharmacy, Monastir, Center University, Tunisia.
authors.forename: Walid
authors.initials: W
authors.lastname: Zammiti
authors.forename: Nabil
authors.initials: N
authors.lastname: Mtiraoui
authors.forename: Eric
authors.initials: E
authors.lastname: Mercier
authors.forename: Nesrine
authors.initials: N
authors.lastname: Abboud
authors.forename: Sarra
authors.initials: S
authors.lastname: Saidi
authors.forename: Touhami
authors.initials: T
authors.lastname: Mahjoub
authors.forename: Wassim Y
authors.initials: WY
authors.lastname: Almawi
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Gris
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012307:Risk Factors; D014416:Tunisia
chemical_list: C119012:factor V Cambridge; C403771:factor V Hong Kong; C095381:factor V Leiden; D005165:Factor V