Abstract (english) | ARTICLE
Matrix metalloproteinases 1, 2, 3 and 9
functional single-nucleotide polymorphisms
in idiopathic recurrent spontaneous abortion
Nina Pereza
a
, Sas
ˇ
a Ostojic
́
a,
*
, Marija Volk
b
, Miljenko Kapovic
́
a
,
Borut Peterlin
b
a
Department of Biology and Medical Genetics, Faculty of Medicine, University of Rijeka, B. Branchetta 20, 51000 Rijeka,
Croatia;
b
Institute of Medical Genetics, Department of Gynaecology and Obstetrics, UMC Ljubljana, 1000 Ljubljana,
Slovenia
*
Corresponding author.
E-mail address:
sasa@medri.hr
(S Ostojic
́).
Nina Pereza, MD, is a PhD student at the Faculty of Medicine, University of Rijeka. She works at the Department
of Biology and Medical Genetics and her main interest of research is reproductive genetics, especially genetic
causes associated with idiopathic recurrent spontaneous abortion.
Abstract
Idiopathic recurrent spontaneous abortion (IRSA) has been associated with abnormalities in the remodelling of endome-
trial extracellular matrix, as well as aberrant matrix metalloproteinase (MMP) gene expression in endometrium of IRSA women and
chorionic villi of IRSA concepti. This study investigated the association of five functional MMP gene promoter polymorphisms (MMP1
1607 1G/2G, MMP2
735 C/T, MMP2
1306 C/T, MMP3
1612 5A/6A and MMP9
1562 C/T) with IRSA. A total of 149 couples with
at least three consecutive IRSA and 149 fertile couples were included in a case–control study. Genotype analysis was performed
using PCR restriction fragment length polymorphism. Statistically significant differences were found in distributions of MMP2
735
CT (chi-squared 10.21,
P
= 0.006; OR 2.15, 95% CI 1.34–3.45,
P
= 0.001), and MMP9
1562 CC (chi-squared 9.06,
P
= 0.010; OR 2.21,
95% CI 1.30–3.80,
P
= 0.004) between IRSA women and controls. Combined analysis of MMP gene polymorphisms did not increase
their predictive value. There were no statistically significant differences in genotype and allele frequencies of any polymorphism
between IRSA men and controls. MMP2
735 C/T and MMP9
1562 C/T functional gene polymorphisms might be associated with
an increased risk of IRSA in women. |