Plasminogen activator inhibitor-1 4G/5G and 5,10-methylene-tetrahydrofolate reductase C677T polymorphisms in polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a heterogeneous conditionwith unknown etiology and is considered to be the most commonendocrine disorder in women of reproductive age. Two meta-analysesare presented here concerning the association of PlasminogenActivator Inhibitor 1 (PAI-1) 4G/5G polymorphism and the methylene-tetrahydrofolatereductase (MTHFR) C677T polymorphism with the risk of developingPCOS. Seven studies were included concerning PAI-1 (1538 cases,710 controls) and six studies concerning MTHFR C677T (223 cases,392 controls). Overall, a significant association was foundfor PAI-1, with the odds ratio (OR) for 4G carriers versus 5Ghomozygotes being equal to 1.600 (95% CI 1.052, 2.434) withstrong evidence for dominant inheritance. There was howevera large between-studies variability (I² = 67.3%). No evidencewas found for association of MTHFR C677T polymorphism with PCOS(OR for the TT+CT versus CC comparison equal to 0.940 with 95%CI 0.561, 1.575). No evidence of publication bias was foundin these meta-analyses. PAI-1 4G/5G polymorphism seems to beassociated with the risk of developing PCOS. Further studiesare needed in order to investigate the etiologic mechanism behindthis association, as well as the interrelations with other componentsof the metabolic syndrome (hypertension, diabetes, etc.).