Author/Editor		Ostojić, Saša; Pereza, Nina; Volk, Marija; Kapović, Miljenko; Peterlin, Borut
Title		Genetic predisposition to idiopathic recurrent spontaneous abortion: contribution of genetic variations in IGF-2 and H19 imprinted genes
Type		članek
Source		AM J REPROD IMMUNOL
Vol. and No.		Letnik 60, št. 2
Publication year		2008
Volume		str. 111-7
Language		eng
Abstract		Problem: Recurrent spontaneous abortion (RSA) is a common clinical problem with a complex etiology of genetic and non-genetic causes, which remains to be fully determined. IGF-2 stimulates trophoblast invasion, proliferation and maturation of placenta, while H19 RNA suppresses growth. As genomic imprinting plays a critical role in the development of placenta and embryo, our aim was to evaluate the possible role of variations in IGF-2 and H19 imprinted genes as factors of predisposition for RSA. Method of study: A case-control study was conducted to determine the association between IGF-2 and H19 gene polymorphisms and the susceptibility to RSA in 113 couples with RSA and 226 controls. PCR/RFLP were performed to analyze IGF-2 ApaI and H19 HhaI polymorphisms. Results: We found a statistically significant difference in the genotype frequency distribution of IGF-2 ApaI polymorphism between males from couples with RSA and healthy males (chi2(2) = 45.12; P < 0.0001). There were no differences in the genotype and allele distribution of H19 polymorphism frequencies, or for the IGF-2 ApaI polymorphism between female groups. Conclusion: The presence of IGF-2 ApaI polymorphism in partners of RSA women could affect IGF-2 level of expression in placenta and embryo and represent a risk factor for RSA susceptibility.
Descriptors		GENOMIC IMPRINTING ABORTION, HABITUAL ALLELES CASE-CONTROL STUDIES GENE FREQUENCY GENOTYPE INSULIN-LIKE GROWTH FACTOR II PREGNANCY