Genetic causes of recurrent pregnancy loss

2015 Fiscal Year Final Research Report

• Project/Area Number: 24592478
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Obstetrics and gynecology
• Research Institution: Nagoya City University
• Principal Investigator: Sugiura Mayumi 名古屋市立大学, 医学(系)研究科(研究院), 教授 (30264740)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 不育症 / 習慣流産 / 凝固第XII因子 / 凝固第V因子 / プロテインS / ループスアンチコアグラント / 抗リン脂質抗体 / 不育症易罹患性遺伝子

Outline of Final Research Achievements

Six kinds of SNPs of ANXA5, CT genotype of coagulation factor XII (FXII) and GT and TT genotype of Ser156Ser of FV were found to be risk factors for recurrent pregnancy loss (RPL). The frequency of protein S (PS) Tokushima in patients was similar to that in controls. No case of Nara mutation and Hong Kong mutation were found in both patients and controls. There was no difference of subsequent live birth rate between with and without risk alleles of ANXA5, FXII, FV and PS Tokushima. There was no difference of subsequent live birth rate between low and normal levels of FXII activity, PS antigen, PS activity and PS specific activity after excluding cases with RPL caused by abnormal embryonic karyotype.
We found CT genotype of FXII as a risk factor for RPL at the first time. However, the genotyping of these risk alleles and testing for FXII activity and PS measurement were not necessary because of absence of clinical benefit.

Free Research Field

不育症