A Prospective Case-Control Study Analyzes 12 Thrombophilic Gene Mutations in Turkish Couples with Recurrent Pregnancy Loss

作者：Yenicesu Gonca Imir^*; Cetin Meral; Ozdemir Ozturk; Cetin Ali; Ozen Filiz; Yenicesu Cem; Yildiz Caglar; Kocak Nadir

来源：American Journal of Reproductive Immunology, 2010, 63(2): 126-136.

DOI：10.1111/j.1600-0897.2009.00770.x

• Couples
• mutation
• recurrent pregnancy loss
• thrombophilic genes

Problem
Recurrent pregnancy loss (RPL) is a heterogeneous disorder. The contribution of specific thrombophilic genes to the pathophysiology of RPL has remained controversial. We evaluated the prevalences of 12 thrombophilic gene mutations among homogenous Caucasian couples with RPL and fertiles.
Method of study
This was a prospective case-control study evaluating 272 women with RPL and 152 of their male partners, and a control group of 56 fertile couples. We investigated mutations including FV Leiden, factor V H1299R, factor II prothrombin G20210A, F XIII V34L, beta-fibrinogen -455G > A, plasminogen activator inhibitor-1, GPIIIa L33P (HPA-1 a/b L33P), MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E.
Results
Overall, heterozygous mutations of FV Leiden, FXIII V34L, GPIIIa L33P, Apo E4, and prothrombin G20210A and homozygous mutations of PAI-1and MTHFR C677T were associated with RPL. There was no meaningful association between RPL and other studied genes.
Conclusion
In contrast to the other mutations and polymorphisms, FV Leiden, FXIII V34L, GPIIIa L33P, Apo E, prothrombin G20210A, PAI-1 and MTHFR C677T gene mutations may help to identify the couples at risk for recurrent pregnancy loss.

• 出版日期2010-2