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.

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 () gene regulates apoptosis, and the Leukemia Inhibitory Factor () 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 gene (rs2279115 and rs4987856) and one SNP of the 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 test was used to compare discrete variables, and the independent sample test was used to compare continuous variables.

Results: The allele frequencies for the rs2279115 and rs4987856 polymorphisms of and the rs929271 polymorphism of were not significantly different between the patient and control groups ( = 0.162, = 0.053, = 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: rs929271 SNP and rs4987856 SNP ( = 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 and genes are associated with CAKUT disease.