A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Yenicesu
Gonca Imir
GI
Department of Obstetrics and Gynecology, Cumhuriyet University School of Medicine, Sivas, Turkey. imirgonca@yahoo.com
Cetin
Meral
M
Ozdemir
Ozturk
O
Cetin
Ali
A
Ozen
Filiz
F
Yenicesu
Cem
C
Yildiz
Caglar
C
Kocak
Nadir
N
D000026:Abortion, Habitual / Q000097:blood / Q000209:etiology* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001055:Apolipoproteins B / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000209:etiology* / Q000235:genetics*; D011446:Prospective Studies; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000097:blood / Q000150:complications* / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
D001055:Apolipoproteins B; D001057:Apolipoproteins E; D039661:Integrin beta3; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005340:Fibrinogen; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D007703:Peptidyl-Dipeptidase A