Molecular Analysis of the M2/ANXA5 Haplotype as a new marker for infertility and thrombophilia predisposition

• Applicant: Privatdozent Dr. Arseni Markov, Ph.D.
• Subject Area: Gynaecology and Obstetrics ; Human Genetics ; Reproductive Medicine, Urology
• Term: from 2014 to 2018
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 251763560

Thrombophilia predispositions are a recognized factor for miscarriages and placental obstetric complications. Significant share of these conditions are hereditary. A recently found gene variant, M2/ANXA5, has been confirmed to associate with recurrent pregnancy loss (RPL), thrombophilia related obstetric complications, venous and supposedly arterial thromboses as well. Working hypothesis of this project is that proposed reduced expression of ANXA5 through carriage of the M2 haplotype can be a risk factor for the relevant clinical phenotypes. The long term goal of this project is to highlight pharmacologically active compounds for treatment of these obstetric complications. Related to this, the current research project has two major aims:1. To show the plausibly reduced ANXA5 expression in M2 carriers of the relevant patient cohorts (early pregnancy losses and thrombotic obstetric complications) and to elucidate molecular mechanisms of expression regulation;2. To prove the possible regulation of ANXA5 expression through progestogens in pregnancy and to identify synthetic analogs that can elevate this expression in relevant tissue

• DFG Programme: Research Grants
• Participating Persons: Privatdozentin Dr. Nadja Bogdanova; Privatdozent Dr. Bernd Dworniczak; Professor Dr. Frank Tüttelmann; Professor Dr. Peter Frank Wieacker