Premium
ORIGINAL ARTICLE: Genetic Predisposition to Idiopathic Recurrent Spontaneous Abortion: Contribution of Genetic Variations in IGF‐2 and H19 Imprinted Genes
Author(s) -
Ostojić Saša,
Pereza Nina,
Volk Marija,
Kapović Miljenko,
Peterlin Borut
Publication year - 2008
Publication title -
american journal of reproductive immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.071
H-Index - 97
eISSN - 1600-0897
pISSN - 1046-7408
DOI - 10.1111/j.1600-0897.2008.00601.x
Subject(s) - biology , genotype , genomic imprinting , genetic predisposition , allele , genetics , placenta , polymorphism (computer science) , allele frequency , gene , endocrinology , medicine , pregnancy , fetus , gene expression , dna methylation
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 (χ 2 (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.