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

Abstract

<b><i>Introduction:</i></b> 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 (<i>BCL-2</i>) gene regulates apoptosis, and the Leukemia Inhibitory Factor (<i>LIF</i>) 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 <i>BCL-2</i> gene (rs2279115 and rs4987856) and one SNP of the <i>LIF</i> gene (rs929271) were investigated in CAKUT patients for the first time. <b><i>Methods:</i></b> 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<sup>2</sup> test was used to compare discrete variables, and the independent sample <i>t</i> test was used to compare continuous variables. <b><i>Results:</i></b> The allele frequencies for the rs2279115 and rs4987856 polymorphisms of <i>BCL-2</i> and the rs929271 polymorphism of <i>LIF</i> were not significantly different between the patient and control groups (<i>p</i> = 0.162, <i>p</i> = 0.053, <i>p</i> = 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: <i>LIF</i> rs929271 SNP and <i>BCL-2</i> rs4987856 SNP (<i>p</i> = 0.034). The relative odds ratio was 2.444 (95% Confidence Interval (CI) 1.054–5.671). <b><i>Conclusion:</i></b> This study, which is the first time in the literature, showed that changes in <i>BCL-2</i> and <i>LIF</i> genes are associated with CAKUT disease.