title: +1040 C/T polymorphism in coding region of thrombin-activatable fibrinolysis inhibitor gene and the risk of idiopathic recurrent fetal loss.
abstract: Recurrent fetal loss (RFL) is common health problem affecting up to 5% of women of reproductive age. It has been shown that plasma thrombin-activatable fibrinolysis inhibitor (TAFI) concentrations increase during pregnancy and return to baseline levels soon after delivery. The +1040C/T single nucleotide polymorphism in coding region of TAFI gene is associated with TAFI blood levels. The aim of our study was to investigate the relationship between +1040C/T polymorphism in TAFI gene and idiopathic RFL. Study was carried out in a group of 120 women (61 controls and 59 women with idiopathic RFL). The +1040C/T polymorphism was detected by restriction fragment length polymorphism PCR. Increased frequency of +1040T/T genotype was observed in a study group, but without statistically significant difference. Carriers of T/T genotype have increased risk of fetal loss by 1.23-fold, compared with carriers of C/C (95% CI 0.462-3.277; P = 0.7) and 1.34-fold compared with carriers of C/T genotype (95% CI 0.501-3.601; P = 0.6). C allele is associated with reduced risk of recurrent fetal loss compared with T allele (OR 0.91; 95% CI 0.545-1.533; P = 0.7). In conclusion, we observed increased frequency of +1040T/T genotype in a patient group, suggesting that this genotype could be potential risk factor for idiopathic RFL. Further investigation should be carried out in order to establish the role of this polymorphism in the etiology of idiopathic recurrent miscarriages.
authors: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
authors: Iva
authors: I
authors: Pruner
authors: Valentina
authors: V
authors: Djordjevic
authors: Predrag
authors: P
authors: Miljic
authors: Mirjana
authors: M
authors: Kovac
authors: Nebojsa
authors: N
authors: Antonijevic
authors: Ljiljana
authors: L
authors: Rakicevic
authors: Dragica
authors: D
authors: Radojkovic
mesh_terms: D000026:Abortion, Habitual / Q000097:blood / Q000209:etiology / Q000235:genetics*; D000328:Adult; D025901:Carboxypeptidase B2 / Q000097:blood / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016366:Open Reading Frames / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000502:physiology*; D011247:Pregnancy; D012306:Risk; D055815:Young Adult
chemical_list: D025901:Carboxypeptidase B2