Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Polymorphism in Females with Recurrent Spontaneous Pregnancy Loss | ||
| Middle East Journal of Medical Genetics | ||
| Volume 13, Issue 2, July 2024, Pages 1-9 PDF (457.29 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/mxe.2024.259604.1013 | ||
| Authors | ||
| Osama Elshaer1; Eman Behiry1; Hesham Issa1; dalia farouk2; Engy Ashaat3; weaam alkholy* 4; Mohammed El-kholey5; Mohammed el gazzar6; Abeer Ramadan7 | ||
| 1Professor of Clinical & Chemical Pathology Department, Faculty of Medicine , Benha University,Egypt | ||
| 2natioAssociate professor, of Human Cytogenetic Department , Human Genetics and Genome Research Institute, National Research Centre,Egypt.nal research centre | ||
| 3Associate Professor, of Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt | ||
| 4Chemical pathology, Benha University | ||
| 5M.B.B.CH. Faculty of Medicine, Benha University,Egypt. | ||
| 65Assistant professor, of Obstetrics and Gynecology Department, Faculty of medicine, Benha university,Egypt | ||
| 76Associate 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. | ||
| Keywords | ||
| CTLA-4; Gene Polymorphism; Recurrent spontaneous abortion | ||
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