Association of genetic polymorphisms in plasminogen activator inhibitor-1 gene and 5,10-methylenetetrahydrofolate reductase gene with recurrent early spontaneous abortion.
- Author:
Li-xue GUAN
1
;
Xin-ying DU
;
Jing-xian WANG
;
Li GAO
;
Rui-li WANG
;
Hai-bo LI
;
Shou-xun WANG
Author Information
- Publication Type:Journal Article
- MeSH: Abortion, Habitual; genetics; Adult; Alleles; Female; Gene Frequency; Genetic Predisposition to Disease; genetics; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2); genetics; Plasminogen Activator Inhibitor 1; genetics; Polymerase Chain Reaction; Polymorphism, Genetic; genetics; Polymorphism, Restriction Fragment Length; Pregnancy; Young Adult
- From: Chinese Journal of Medical Genetics 2005;22(3):330-333
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the relationship of plasminogen activator inhibitor-1 (PAI-1) gene-675 4G/5G and methylenetetrahydrofolate reductase(MTHFR) gene C677T polymorphisms to recurrent early spontaneous abortion(RESA).
METHODSOne hundred and twenty-seven currently non-pregnant women with at least 3 unexplained spontaneous abortions during the first trimester of pregnancy (patient group). Normal control group consisted of 117 currently non-pregnant women with at least 1 pregnancy and without a history of prematurity, miscarriage, stillbirth, eclampsia and other pregnancy complications. The genotypes of PAI-1 gene and MTHFR gene were assessed by polymerase chain reaction-restrictive fragment length polymorphism.
RESULTSThe frequencies of 4G/4G genotype and 4G allele of PAI-1 were higher in patient group (45.7% and 66.1%) than in normal controls (17.1% and 46.6%) (P < 0.01). The PAI-1 4G/4G genotype was significantly associated with RESA (OR = 4.8, 95% CI: 2.23 - 10.35). Besides, MTHFR gene T/T genotype and T allele frequencies were increased in RESA patients (43.3% and 66.5%) versus normal controls (21.4% and 52.6%) (P < 0.01). The patients carrying T/T genotype had a high risk of early spontaneous abortion (OR = 3.2, 95% CI: 1.40 - 7.30). In additionìthe presence of the PAI-1 gene 4G/4G genotype together with the T/T genotype of the MTHFR gene was found to be a risk factor (OR = 6.20, 95% CI: 2.62 - 14.67) for RESA greater than the 4G/4G genotype or the T/T genotype alone.
CONCLUSIONThe above findings suggest that genetic polymorphisms of PAI-1 4G/5G and MTHFR C677T were associated with RESA. They may have synergetic impact and present gene dosage effect on the susceptibility to the development of early spontaneous abortion.
