Naslov
Single nucleotide polymorphisms of tissue inhibitors of metalloproteinases genes in couples with idiopathic recurrent spontaneous abortion

Autori
Pereza, Nina ; Volk, Marija ; Kapović, Miljenko ; Peterlin, Borut ; Ostojić, Saša

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Book of abstracts / Lovrečić, Luca ; Maver, Aleš - Ljubljana : Slovenian Association of Medical Genetics, 2013, 118-118

ISBN
978-961-93050-2-7

Skup
10th Balkan Congress of Human Genetics and 2nd Alpe Adria Meeting of Human Genetics

Mjesto i datum
Bled, Slovenija, 10.10.2013. - 12.10.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
pregnancy; miscarriage

Sažetak
Background: Recurrent spontaneous abortion (RSA) is the spontaneous loss of three or more consecutive pregnancies prior to the 22nd week of gestation. The etiology remains unknown in almost 50% of couples, who comprise the group of idiopathic RSA (IRSA). Previous studies have associated IRSA with abnormalities in the remodelling of endometrial extracellular matrix, as well as aberrant gene expression of matrix metalloproteinases (MMP) and tissue inhibitors of metalloproteinases (TIMP) in mid-secretory endometrium and chorionic villi. Furthermore, we demonstrated that certain MMP-2 and -9 single nucleotide polymorphisms (SNP) in women might be risk factors for IRSA. Currently, we aimed to investigate the potential association of IRSA with TIMP-1, -2, -3 and -4 SNPs in reproductive couples. Method: 149 IRSA couples, as well as 149 fertile men and 149 fertile women with at least two live births and no pregnancy complications were included in a case-control study. Genotyping of TIMP-1 -372 C/T, TIMP-2 -303 C/T, TIMP-3 -915 A/G, TIMP-3 -1296 C/T and TIMP-4 -3'-UTR C/T SNPs was performed using polymerase chain reaction and restriction fragment length polymorphism methods. Results: There were no statistically significant differences in the distribution of neither individual nor combined genotype nor allele frequencies or any genetic model between IRSA couples and controls. Conclusion: We found no evidence for the association of IRSA with TIMP-1, -2, -3 and -4 SNPs in reproductive couples.

Izvorni jezik
Engleski

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