Association of genetic polymorphisms in plasminogen activator inhibitor-1 gene and 5,10-methylenetetrahydrofolate reductase gene with recurrent early spontaneous abortion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 330-333, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-280057
ABSTRACT
<p><b>OBJECTIVE</b>To 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).</p><p><b>METHODS</b>One 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Polymorphism, Restriction Fragment Length
/
Abortion, Habitual
/
Polymerase Chain Reaction
/
Plasminogen Activator Inhibitor 1
/
Genetic Predisposition to Disease
/
Methylenetetrahydrofolate Reductase (NADPH2)
/
Alleles
/
Gene Frequency
/
Genetics
Type of study:
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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