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 χ(2) 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.