title: The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes.
abstract: Recurrent pregnancy loss (RPL) is a complex, multifactorial condition. Inherited thrombophilia is the leading cause of thromboembolism and is associated with an increased risk of RPL. The aims of the current study were to investigate the effects of polymorphisms in hemostasis-related genes antithrombin (SERPINC1), thrombomodulin (THBD), tissue factor pathway inhibitor (TFPI), factor V, factor II and annexin A5 (ANXA5), involved in reproductive failure in 94 RPL cases with two or more consecutive pregnancy losses prior to 20weeks of pregnancy and 169 healthy controls who had at least one term delivery and no history of pregnancy loss. The genotypes of SERPINC1 G786A, THBD C1418T, TFPI T-33C, factor V G1628A, factor II A19911G and ANXA5 G76A were assayed by the Sequenom MassARRAY system. Genotype and allele frequencies for SERPINC1 (rs2227589), TFPI (rs8176592), factor V (rs6020), factor II (rs3136516) and ANXA5 (rs113588187) in cases and controls were similar. The distribution of THBD C1418T allele showed significant differences between RPL cases and healthy controls (odds ratio (OR): 1.58, 95%, confidence interval (CI): 1.05-2.39, P=0.027). In univariate logistic regression analyses, carriers of THBD 1418T allele (CT+TT) had an increased risk of RPL (OR: 1.83, 95%, CI: 1.10-3.06, P=0.020). This indicated that THBD 1418T allele was associated with increasing the risk of RPL.
authors: Fudan University, 130 Dong'an Road, Shanghai 200032, China; NPFPC Laboratory of Contraception and Devices, Shanghai Institute of Planned Parenthood Research, 2140 Xietu Road, Shanghai 200032, China.
authors: Yunlei
authors: Y
authors: Cao
authors: Zhaofeng
authors: Z
authors: Zhang
authors: Jianhua
authors: J
authors: Xu
authors: Wei
authors: W
authors: Yuan
authors: Jian
authors: J
authors: Wang
authors: Xianliang
authors: X
authors: Huang
authors: Yueping
authors: Y
authors: Shen
authors: Jing
authors: J
authors: Du
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D000483:Alleles; D017304:Annexin A5 / Q000235:genetics; D000990:Antithrombin III / Q000235:genetics; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006487:Hemostasis / Q000235:genetics*; D006801:Humans; D008074:Lipoproteins / Q000235:genetics; D016015:Logistic Models; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D018180:Thrombomodulin / Q000235:genetics*
chemical_list: D017304:Annexin A5; D008074:Lipoproteins; C542513:SERPINC1 protein, human; C546931:THBD protein, human; D018180:Thrombomodulin; C051928:lipoprotein-associated coagulation inhibitor; D000990:Antithrombin III; D005165:Factor V; D011516:Prothrombin
keywords: ANXA5; APC; Annexin A5; Antithrombin; BMI; CI; Factor II; Factor V; OR; RPL; SERPINC1; SNP; TFPI; THBD; Thrombomodulin; Tissue factor pathway inhibitor; activated protein C; annexin A5; antithrombin; body mass index; confidence interval; odds ratio; recurrent pregnancy loss; single nucleotide polymorphism; thrombomodulin; tissue factor pathway inhibitor