title: Genetic association of five plasminogen activator inhibitor-1 (PAI-1) polymorphisms and idiopathic recurrent pregnancy loss in Korean women.
abstract: Plasminogen activator inhibitor-1 (PAI-1) is important for maintaining pregnancy. Aberrantly increased PAI-1 levels may contribute to thrombosis and inflammation, leading to pregnancy loss. This study investigated the association of PAI-1 polymorphisms (PAI-1 rs2227631 [-844G>A], rs1799889 [-675 4G/5G], rs6092 [43G>A], rs2227694 [9785G>A], and rs7242 [11053T>G]) with idiopathic recurrent pregnancy loss (RPL) in Korean women. We screened 308 RPL patients and 227 control participants for five PAI-1 polymorphisms. Genotyping of PAI-1 was performed by polymerase chain reaction-restriction fragment length polymorphism assay. PAI-1 4G4G and -844AA/4G4G/11053GG genotypes were associated with RPL. PAI-1 -844A/4G/43G/9785G/11053G haplotype was connected to hypofibrinolytic status (i.e. increased levels of plasma PAI-1, increased numbers of platelets, reduced prothrombin time, and reduced activated partial thromboplastin time). Moreover, PAI-1 11053TG+GG frequency was positively related to plasma homocysteine and urate levels, whereas -844AA frequency was associated with plasma folate concentrations according to ordinal logistic regression analysis. Based on these results, we propose that PAI-1 -844G>A, 4G/5G, and 11053T>G polymorphisms are markers of RPL.
authors.affiliation: Nam Keun Kim, PhD, Institute for Clinical Research, CHA Bundang Medical Center, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea, Tel.: +82 31 780 5762, Fax: +82 31 780 5766, E-mail: nkkim@cha.ac.kr.
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.forename: Young Ran
authors.initials: YR
authors.lastname: Kim
authors.forename: Bo Eun
authors.initials: BE
authors.lastname: Lee
authors.forename: Yi Seul
authors.initials: YS
authors.lastname: Choi
authors.forename: Ji Hyang
authors.initials: JH
authors.lastname: Kim
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Shin
authors.forename: HyungChul
authors.initials: H
authors.lastname: Rah
authors.forename: Sun Hee
authors.initials: SH
authors.lastname: Cha
authors.forename: Woo Sik
authors.initials: WS
authors.lastname: Lee
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000026:Abortion, Habitual / Q000097:blood / Q000235:genetics*; D000328:Adult; D001777:Blood Coagulation / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005492:Folic Acid / Q000097:blood; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D007723:Korea; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics / Q000378:metabolism*; D011110:Polymorphism, Genetic; D011247:Pregnancy; D055815:Young Adult
chemical_list: D017395:Plasminogen Activator Inhibitor 1; D006710:Homocysteine; D005492:Folic Acid
keywords: Plasminogen activator inhibitor-1; polymorphism; recurrent pregnancy loss