Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss | ||||
| Middle East Journal of Medical Genetics | ||||
| Article 1, Volume 13, Issue 1, January 2024, Page 1-8 PDF (465.96 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/mxe.2024.39458 | ||||
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| Authors | ||||
Osama Saad Elshaer1; Eman Gamal Behiry1; Hesham Ali Issa1; Dalia Farouk Hussen2; Engy A. Ashaat3; Weaam Mohammed Mohammed El-kholey  4; Mohammed Abd Elmaboud El Gazzar5; Abeer Ramadan6
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| 1Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Egypt. | ||||
| 2Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt. | ||||
| 3Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Egypt. | ||||
| 4Pathology Department, Faculty of Medicine, Benha University, Egypt. | ||||
| 5Obstetrics and Gynecology Department, Faculty of Medicine, Benha University, Egypt. | ||||
| 6Molecular Genetics and 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 and Enzymology Department) in collaboration with Benha Faculty of Medicine (Clinical and 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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