Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.2364G>A) and LIF Polymorphism (c.1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract

• Published in: Molecular syndromology Vol. 15; no. 5; pp. 371 - 379
• Main Authors: Oztepe, Tugce, Sahin, Feride Iffet, Caltik Yilmaz, Aysun, Baskin, Esra, Haberal, Mehmet, Terzi, Yunus Kasim
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.10.2024
• Subjects: Original; Original Article; LIF; BCL-2; rs4987856; Congenital anomalies of the kidney and urinary tract; rs2279115; rs929271
• ISSN: 1661-8769; 1661-8777
• DOI: 10.1159/000538653

Abstract Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by several malformations. Its prevalence is 0.3–0.6% in live births. The B-cell lymphoma (BCL-2) gene regulates apoptosis, and the Leukemia Inhibitory Factor (LIF) gene plays a role in many biological processes, such as blastocyst growth and uterine preparation for implantation. In this study, two single nucleotide polymorphisms (SNPs) of the BCL-2 gene (rs2279115 and rs4987856) and one SNP of the LIF gene (rs929271) were investigated in CAKUT patients for the first time. Methods: Hundred and twenty-nine CAKUT patients and 105 controls were enrolled in this study. We used polymerase chain reaction-restriction fragment length polymorphism for rs2279115 and rs929271 and SNaPshot for rs4987856. The χ2 test was used to compare discrete variables, and the independent sample t test was used to compare continuous variables. Results: The allele frequencies for the rs2279115 and rs4987856 polymorphisms of BCL-2 and the rs929271 polymorphism of LIF were not significantly different between the patient and control groups (p = 0.162, p = 0.053, p = 0.635, respectively). However, the co-segregation analysis revealed a significant difference in the distribution of allele frequencies between the patient and control groups for two genetic variations: LIF rs929271 SNP and BCL-2 rs4987856 SNP (p = 0.034). The relative odds ratio was 2.444 (95% Confidence Interval (CI) 1.054–5.671). Conclusion: This study, which is the first time in the literature, showed that changes in BCL-2 and LIF genes are associated with CAKUT disease.