Lack of evidence for the association of ornithine decarboxylase (+316 G>A), spermidine/spermine acetyl transferase (−1415 T>C) gene polymorphisms with calcium oxalate stone disease

• Published in: Biomedical reports Vol. 2; no. 1; pp. 69 - 74
• Main Authors: ÇOKER-GÜRKAN, AJDA, ARISAN, SERDAR, ARISAN, ELIF DAMLA, ÜNSAL, NARÇIN PALAVAN
• Format: Journal Article
• Language: English
• Published: England D.A. Spandidos 01.01.2014; Spandidos Publications UK Ltd
• Subjects: Acetyltransferase; Amino acids; Binding sites; C gene; Calcium; Calcium oxalate; Chromosomes; Chronic illnesses; Digestion; Disease; Enzymes; Females; Gene expression; Gene frequency; Gene polymorphism; Genetic markers; Homeostasis; Kidney stones; Lithiasis; Metabolism; Ornithine; Ornithine decarboxylase; ornitihine decarboxylase; Oxalic acid; Polyamines; Polymerase chain reaction; Polymorphism; Putrescine; Single-nucleotide polymorphism; Spermidine; Spermine; spermine/spermindine acetyl transferase; Studies; Urea; Uric acid; Urinary tract; Urine; Urolithiasis; urolithiasis; polymorphism; spermine/spermindine acetyl transferase; ornitihine decarboxylase
• ISSN: 2049-9434; 2049-9442
• DOI: 10.3892/br.2013.184

Urolithiasis is a complex and multifactorial disorder characterized by the presence of stones in the urinary tract. Urea cycle is an important process involved in disease progression. L-ornithine is a key amino acid in the urea cycle and is converted to putrescine by ornithine decarboxylase (ODC). Putrescine, spermidine and spermine are natural polyamines that are catabolized by a specific enzyme, spermidine/spermine acetyltransferase (SSAT). The single-nucleotide polymorphisms (SNPs) in the intron region of ODC (+316 G>A) and promoter region of SSAT (−1415 T>C) genes have been found to be associated with the polyamines expression levels. The aim of this study was to examine whether the ODC (+316 G>A) intron 1 region gene polymorphism and SAT-1 promoter region (−1415 T>C) gene polymorphisms are potential genetic markers for susceptibility to urolithiasis. A control group of 104 healthy subjects and a group of 65 patients with recurrent idiopathic calcium oxalate stone disease were enrolled into this study. Polymerase chain reaction (PCR)-based restriction analysis was performed for the ODC intron 1 (+316 G>A) region and SAT-1 (−1415 T>C) promoter gene polymorphisms by PstI and MspI restriction enzyme digestion, respectively. The genotype distribution of polymorphisms studied in the ODC intron 1 region (+316 G>A) and SAT-1 −1415 T>C promoter region did not reveal a significant difference between urolithiasis and the control groups (P=0.713 and 0.853), respectively. Furthermore, no significant difference was observed between the control and patient groups for ODC +316 G>A and SAT-1 −1415 T>C allele frequencies (P=0.877 and 0.644), respectively. In conclusion, results of the present study suggest that ODC + 316 G>A and SAT-1 −1415 T>C gene polymorphisms might not be a risk factor for urolithiasis.