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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The PAI-1 4G/5G and ACE I/D polymorphisms and risk of recurrent pregnancy loss: a case-control study
Jin Ju Kim1, Young Min Choi, Sung Ki Lee
1Department of Obstetrics and Gynecology, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, Korea; The Institute of Reproductive Medicine and Population, Medical Research Centre, Seoul National University College of Medicine, Seoul, Korea.
Problem:
Thrombophilia has been postulated to be a contributor to the pathophysiology of recurrent pregnancy loss (RPL). We investigated the role of the plasminogen activator inhibitor type 1 (PAI-1) 4G/5G and angiotensin converting enzyme (ACE) I/D polymorphisms in Korean patients with RPL.
Method Of Study:
Genotyping was performed using the TaqMan assay in 227 RPL patients and 304 controls.
Results:
The genotype distributions of both polymorphisms in the RPL group did not differ from those of controls. Because the frequency of being homozygous for ACE D/D and the PAI-I 4G/4G combination has been reported to be significantly higher in RPL patients, this was also analyzed. However, no significant difference was noted; 3.1% of RPL patients had both ACE D/D and PAI-I 4G/4G, as did 4.9% of controls (P = 0.791).
Conclusion:
The current study suggests that both polymorphisms, either alone or in combination, are not major determinants of the development of RPL in Korean women.
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