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Pereza N.,University of Rijeka | Peterlin B.,Clinical Institute of Medical Genetics | Volk M.,Clinical Institute of Medical Genetics | Kapovic M.,University of Rijeka | Ostojic S.,University of Rijeka
Molecular Human Reproduction | Year: 2014

A number of case-control studies investigated the association between idiopathic recurrent spontaneous abortion (IRSA) and variations in the gene encoding endothelial nitric oxide synthase (NOS3), but yielded contradictory results. Our aim was to test the association of the NOS3 variable number of tandem repeats (VNTR) in intron 4 and +894 G/T single-nucleotide polymorphism (SNP) with IRSA in Slovenian women(148 IRSA and 149 control women), conduct a systematic review of literature on the association betweenNOS3gene variations and IRSA, and perform meta-analyses of studies that met the inclusion criteria, defined by virtue of the European Society for Human Reproduction and Embryology evidence-based guidelines for recurrent spontaneous abortion. Genotyping was performed using PCR and restriction fragment length polymorphism methods. The systematic review of literature (English language) was conducted using PubMed and Scopus databases, to 1 November 2014.We determined no association of IRSA with the VNTR in intron 4 and +894 G/T SNP in Slovenian women. Furthermore, 16 case-control studies were identified on the association between 15 NOS3 gene variations and IRSA. However, significant inconsistencies exist in the selection criteria of patients and controls between studies. The meta-analysis of VNTR in intron 4 was performed on five studies (894 patients, 944 controls), whereas the meta-analysis of +894 G/T SNP included six studies (1111 patients, 1121 controls). The association with IRSAwas significant for the+894G/TSNP under thedominant geneticmodel (GT+TTversusGG) based on fixed (odds ratio (OR) 1/4 1.54, 95% confidence interval (CI) 1/4 1.28-1.86, P 1/4 ,0.01) and randomeffects models (OR 1/4 1.54, 95% CI 1/4 1.03-2.31, P 1/4 0.03). In conclusion, the GTand TT genotypes of the +894 G/T SNP in women might contribute to a predisposition to IRSA. Additional genetic association and functional studies in different populations with larger numbers of participants and a uniformly defined IRSA are needed to clarify the contribution of NOS3 +894 G/T gene variation to IRSA. © The Author 2015. Source


Pereza N.,University of Rijeka | Ostojic S.,University of Rijeka | Smircic A.,University of Rijeka | Hodzic A.,Clinical Institute of Medical Genetics | And 2 more authors.
Journal of Assisted Reproduction and Genetics | Year: 2015

Purpose: The vascular endothelial growth factor A (VEGFA) is crucial for normal vasculogenesis and angiogenesis during pregnancy, and alterations in the VEGFA gene expression were detected in women with idiopathic recurrent spontaneous abortion (IRSA) and spontaneously aborted conceptuses. Our aim was to evaluate whether there is an association between the functional −2549 insertion/deletion (I/D) polymorphism in the promoter region of the VEGFA gene and IRSA in reproductive couples. Methods: We performed a case-control study involving 149 women and their 140 partners with three or more IRSA and 149 control women and men. Allele-specific polymerase chain reaction was used for genotyping. Results: We found no association of the −2549 I/D polymorphism with IRSA in women. However, men with the DD genotype have a 1.75-fold increased risk of IRSA compared with men carrying the ID and II genotypes (95 % confidence interval (CI) = 1.05–2.93, P = 0.032). In addition, the D allele in men contributes to a 1.42-fold increased risk of IRSA (95 % CI = 1.02–1.97, P = 0.036) compared to men carrying the I allele. Conclusions: Our results indicate that the −2549 I/D polymorphism in the VEGFA gene in men might be associated with IRSA. Additional genetic association studies including both partners, as well as expression studies, are needed to elucidate the role of this polymorphism in IRSA. © 2015, Springer Science+Business Media New York. Source


Volk M.,Clinical Institute of Medical Genetics | Teran N.,Clinical Institute of Medical Genetics | Maver A.,Clinical Institute of Medical Genetics | Lovrecic L.,Clinical Institute of Medical Genetics | Peterlin B.,Clinical Institute of Medical Genetics
Paediatria Croatica | Year: 2015

Prenatal genetic testing is under the remit of the National Health Service in Slovenia and has been included in clinical routine since the 1980s. Traditionally, prenatal services have consisted of karyotyping and rapid fetal aneuploidy screening to detect chromosome abnormalities, whereas targeted mutation testing was used for single gene disorders. Development of array comparative genomic hybridization and next generation sequencing allows for genome analysis at better resolution in a single experiment. While technological advances in medicine continue to evolve, increasing diagnostic accuracy and broadening the spectrum of indications, all these innovations require more investment along with more equipment and higher staffing rations trained to use it, placing burden upon healthcare funding and expenditure. This prompts us to consider how to implement new techniques into the existing services in order to update genetic services for the 21st century. Our aim is to develop a new approach to prenatal genetic services, which would maximize diagnostic yield at an acceptable cost. Source

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