These authors contributed equally to this work.
ORIGINAL ARTICLE: Genetic Predisposition to Idiopathic Recurrent Spontaneous Abortion: Contribution of Genetic Variations in IGF-2 and H19 Imprinted Genes
Article first published online: 10 JUL 2008
© 2008 The Authors. Journal compilation © 2008 Blackwell Munksgaard
American Journal of Reproductive Immunology
Volume 60, Issue 2, pages 111–117, August 2008
How to Cite
Ostojić, S., Pereza, N., Volk, M., Kapović, M. and Peterlin, B. (2008), ORIGINAL ARTICLE: Genetic Predisposition to Idiopathic Recurrent Spontaneous Abortion: Contribution of Genetic Variations in IGF-2 and H19 Imprinted Genes. American Journal of Reproductive Immunology, 60: 111–117. doi: 10.1111/j.1600-0897.2008.00601.x
- Issue published online: 10 JUL 2008
- Article first published online: 10 JUL 2008
- Submitted March 3, 2008; accepted March 5, 2008.
- Gene polymorphism;
- genomic imprinting;
- insulin-like growth factor-2;
- recurrent spontaneous abortion
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 (χ2(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.