title: Functional SNP -1562C/T in the promoter region of MMP9 and recurrent early pregnancy loss.
abstract: Angiogenesis, invasion and decidualization play an important role in uterine preparation and embryo development. Matrix metalloproteinases (MMP) are crucial for the degradation/remodelling of the extracellular matrix and are involved in spiral artery formation and invasion of endometrium during implantation. A functional single-nucleotide polymorphism (SNP) in the MMP9 promoter, 1562C/T, is known to influence expression in an allele-specific manner. The present study evaluated the association between maternal genotype of SNP 1562C/T of MMP9 and recurrent early pregnancy loss (REPL) risk. This case–control study was comprised of REPL patients (n = 106) and women having one healthy child as controls (n = 111). Genotyping for SNP 1562C/T of MMP9 was performed by PCR/restriction fragment length polymorphism followed by DNA sequencing. Allele and genotype distribution did not differ significantly between patients and controls (by allele, chi-squared 0.228, odds ratio 1.12, 95% confidence interval 0.695–1.816; by genotype, chi-squared 0.893). Thus SNP 1562C/T of MMP9 was not associated with REPL risk in this population and further study in other populations will verify whether it is associated with REPL risk or not. REPL is a multifactorial pathology and other genetic or environmental factors may be contributing to the complex aetiology of REPL.
authors: Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi 221005, India. singhk4@rediffmail.com
authors: Kiran
authors: K
authors: Singh
authors: Rohini R
authors: RR
authors: Nair
authors: Anuradha
authors: A
authors: Khanna
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000483:Alleles; D016022:Case-Control Studies; D020964:Embryo Loss / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011401:Promoter Regions, Genetic
chemical_list: D020780:Matrix Metalloproteinase 9