Naslov
Genetic predisposition to idiopathic recurrent spontaneous abortion: Igf2 and H19 gene polymorphisms

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

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

Izvornik
IV. hrvatski kongres iz humane genetike : knjiga sažetaka ; u: Paediatria Croatica 51 (2007)(3) / - , 2007, 136-137

Skup
Hrvatski kongres iz humane genetike (4 ; 2007)

Mjesto i datum
Malinska, Hrvatska, 18.10.2007. - 20.10.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
recurrent spontaneous abortion; genetic polymorphisms; Igf2; H19

Sažetak
Gene variability can affect expression, structure and function of key molecules in pregnancy and subsequently, gene polymorphisms in men and women can represent the possible factors of predisposition to recurrent spontaneous abortion (RSA). The aim of this study was to evaluate the possible role of polymorphisms in genes undergoing the phenomenon of genomic imprinting, a functional difference in the allelic expression that depends upon the parental origin of inheritance. We investigated important genes that regulate the process of implantation and placentation, paternally expressed Igf2 and maternally expressed H19. A case-control study was conducted to determine the association between Igf2 and H19 gene polymorphisms and the susceptibility to RSA in 113 couples with RSA and 226 fertile controls. PCR was performed to analyse DNA for Igf2 ApaI polymorphism and H19 HhaI polymorphism. Statistically significant difference was found for Igf2 ApaI polymorphism in male partners of RSA women. Their genotype frequencies compared with controls' were: 13%/56% (AA) ; 39%/20% (GG) ; 48%/25% (AG) ; when following dominant model (AA+AG vs GG), OR=0.38 [0.20-0.69] ; p=0.001 ; when following recessive model (AA vs GG+AG), OR=0.12 [0.06-0.23] ; p=0.000. Considering that Igf2 gene is expressed only from paternal allele, the presence of ApaI polymorphism in partners of RSA women could affect Igf2 level of expression in placenta and lead to RSA. The research on genes undergoing the phenomenon of genomic imprinting and including male partners in the study, represents a new approach in the research of genetic etiology of idiopathic RSA.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

Napomena
Prva nagrada za najbolji kongresni poster.

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