Document Type : Original Article
Authors
1
Professor of Clinical & Chemical Pathology Department, Faculty of Medicine , Benha University,Egypt
2
natioAssociate professor, of Human Cytogenetic Department , Human Genetics and Genome Research Institute, National Research Centre,Egypt.nal research centre
3
Associate Professor, of Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt
4
Chemical pathology, Benha University
5
M.B.B.CH. Faculty of Medicine, Benha University,Egypt.
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5Assistant professor, of Obstetrics and Gynecology Department, Faculty of medicine, Benha university,Egypt
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6Associate Professor, of Molecular Genetics & Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre,Egypt.
Abstract
Background: Merely 2% of pregnant mothers experience two consecutive miscarriages, and as many as 50% of patients suffering from Recurrent Pregnancy Loss (RPL) lack a definitive cause for their condition. The CTLA-4 gene is located in band q33 on chromosome 2 of the human genome, is approximately 6.2 kilobases long, and is composed of 3 introns and 4 exons. In decidual and peripheral dendritic cells, it is expressed on human placental regulatory T (Treg) cells. Human miscarriages were associated with a downregulation of Treg cells and CTLA-4 expression in decidual and peripheral lymphocytes. The purpose of our analysis was to determine whether the CTLA-4 +49A/G (rs231775) & (rs3087243) gene polymorphism and unexplained RPL were related.
Subjects and Methods: This case-control study included women with RPL were contrasted with healthy females at the age of motherhood. The study was conducted at the National Research Centre (Clinical Genetics Department -Human Cytogenetic Department - Molecular Genetics & Enzymology Department) in collaboration with Benha Faculty of Medicine (Clinical & Chemical Pathology Department).
Results: Considering AG is the reference haplotype, no significant association was found between CTLA-4 rs231775-rs3087243 haplotypes with number of abortions. rs231775 AG+GG was considered a protective predictor, while rs3087243 GA+AA was considered a risky predictor of susceptibility to spontaneous recurrent abortion in uni- and multivariable analyses.
Conclusion: Our study revealed that a significant correlation was discovered between the CTLA-4 gene rs231775 AG, GG genotypes, G allele, rs231775- rs3087243 GG haplotype with protective effect against RPL. Whereas, a significant correlation was discovered between the CTLA-4 gene rs3087243 GA, AA genotypes, A allele AA haplotype and RPL risk.
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