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

Çoker‑Gürkan,Ajda; Arisan,Serdar; Arisan,Elif  Damla; Ünsal,Narçin   Palavan

doi:10.3892/br.2013.184

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

Authors:
- Ajda Çoker‑Gürkan
- Serdar Arisan
- Elif Damla Arisan
- Narçin Palavan Ünsal
View Affiliations

Affiliations: Department of Molecular Biology and Genetics, Science and Letter Faculty, Istanbul Kultur University, Atakoy Campus, 34156 Istanbul, Turkey, 1st Urology Clinics, Şişli Etfal Research and Training Hospital, Sisli, 34377 Istanbul, Turkey
Published online on: October 21, 2013 https://doi.org/10.3892/br.2013.184
Pages: 69-74

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

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.

View Figures

View References

1	Muslumanoglu AY, Binbay M, Yuruk E, et al: Updated epidemiologic study of urolithiasis in Turkey. I: changing characteristics of urolithiasis. Urol Res. 39:309–314. 2010. View Article : Google Scholar : PubMed/NCBI
2	Ertan P, Tekin G, Oger N, Alkan S and Horasan GD: Metabolic and demographic characteristics of children with urolithiasis in Western Turkey. Urol Res. 39:105–110. 2010. View Article : Google Scholar : PubMed/NCBI
3	Koyuncu HH, Yencilek F, Eryildirim B and Sarica K: Family history in stone disease: how important is it for the onset of the disease and the incidence of recurrence? Urol Res. 38:105–109. 2010. View Article : Google Scholar : PubMed/NCBI
4	Khan SR and Canales BK: Genetic basis of renal cellular dysfunction and the formation of kidney stones. Urol Res. 37:169–180. 2009. View Article : Google Scholar : PubMed/NCBI
5	Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Soderkvist P and Denneberg T: Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds. Urol Res. 31:417–425. 2003. View Article : Google Scholar
6	Atanassova SS, Panchev P and Ivanova M: Plasma levels and urinary excretion of amino acids by subjects with renal calculi. Amino Acids. 38:1277–1282. 2010. View Article : Google Scholar : PubMed/NCBI
7	Kepka-Lenhart D, Ash DE and Morris SM: Determination of mammalian arginase activity. Methods Enzymol. 440:221–230. 2008. View Article : Google Scholar : PubMed/NCBI
8	Kohri K, Takada M, Katoh Y, Kataoka K, Iguchi M and Kurita T: Amino acids in urine and plasma of urolithiasis patients. Int Urol Nephrol. 21:9–16. 1989. View Article : Google Scholar : PubMed/NCBI
9	Azoury R, Garti N and Sarig S: The amino acid factor in stone formers’ and normal urines. Urol Res. 14:295–298. 1986.
10	Casero RA and Pegg AE: Polyamine catabolism and disease. Biochem J. 421:323–338. 2009. View Article : Google Scholar : PubMed/NCBI
11	Matthews HR: Polyamines, chromatin structure and transcription. Bioessays. 15:561–566. 1993. View Article : Google Scholar : PubMed/NCBI
12	Aziz SM, Toborek M, Hennig B, Endean E and Lipke DW: Polyamine regulatory processes and oxidative stress in monocrotaline-treated pulmonary artery endothelial cells. Cell Biol Int. 21:801–812. 1997. View Article : Google Scholar : PubMed/NCBI
13	Igarashi K, Ueda S, Yoshida K and Kashiwagi K: Polyamines in renal failure. Amino Acids. 31:477–483. 2006. View Article : Google Scholar
14	Sakata K, Kashiwagi K, Sharmin S, et al: Increase in putrescine, amine oxidase, and acrolein in plasma of renal failure patients. Biochem Biophys Res Commun. 305:143–149. 2003. View Article : Google Scholar : PubMed/NCBI
15	Sakata K, Kashiwagi K, Sharmin S, Ueda S and Igarashi K: Acrolein produced from polyamines as one of the uraemic toxins. Biochem Soc Trans. 31:371–374. 2003. View Article : Google Scholar : PubMed/NCBI
16	Igarashi K and Kashiwagi K: Use of polyamine metabolites as markers for stroke and renal failure. Methods Mol Biol. 720:395–408. 2011. View Article : Google Scholar : PubMed/NCBI
17	Bello-Fernandez C, Packham G and Cleveland JL: The ornithine decarboxylase gene is a transcriptional target of c-Myc. Proc Natl Acad Sci USA. 90:7804–7808. 1993. View Article : Google Scholar : PubMed/NCBI
18	Guo Y, Harris RB, Rosson D, Boorman D and O’Brien TG: Functional analysis of human ornithine decarboxylase alleles. Cancer Res. 60:6314–6317. 2000.PubMed/NCBI
19	Kondo T, Hamajima N, Nishio K, et al: Association of a polymorphism in the ornithine decarboxylase gene with whole blood polyamine concentrations in a non-smoking healthy population. J Health Sci. 53:406–412. 2007. View Article : Google Scholar
20	Seiler N, Atanassov CL and Raul F: Polyamine metabolism as target for cancer chemoprevention (Review). Int J Oncol. 13:993–1006. 1998.PubMed/NCBI
21	Xiao L, Celano P, Mank AR, et al: Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1). Biochem Biophys Res Commun. 187:1493–1502. 1992. View Article : Google Scholar : PubMed/NCBI
22	Tomitori H, Nenoi M, Mita K, Daino K, Igarashi K and Ichimura S: Functional characterization of the human spermidine/spermine N(1)-acetyltransferase gene promoter. Biochim Biophys Acta. 1579:180–184. 2002. View Article : Google Scholar : PubMed/NCBI
23	Sequeira A, Gwadry FG, Ffrench-Mullen JM, et al: Implication of SSAT by gene expression and genetic variation in suicide and major depression. Arch Gen Psychiatry. 63:35–48. 2006. View Article : Google Scholar : PubMed/NCBI
24	Miller SA, Dykes DD and Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:12151988. View Article : Google Scholar : PubMed/NCBI
25	Boyce WH and Sulkin NM: Biocolloids of urine in health and in calculous disease. III. The mucoprotein matrix of urinary calculi. J Clin Invest. 35:1067–1079. 1956. View Article : Google Scholar : PubMed/NCBI
26	Canales BK, Anderson L, Higgins L, et al: Proteomic analysis of a matrix stone: a case report. Urol Res. 37:323–329. 2009. View Article : Google Scholar : PubMed/NCBI
27	Coe FL, Evan AP, Worcester EM and Lingeman JE: Three pathways for human kidney stone formation. Urol Res. 38:147–160. 2010. View Article : Google Scholar : PubMed/NCBI
28	Ahmed K, Dasgupta P and Khan MS: Cystine calculi: challenging group of stones. Postgrad Med J. 82:799–801. 2006. View Article : Google Scholar : PubMed/NCBI
29	Brown I, Halliday S, Greig H, Heys SD, Wallace HM and Schofield AC: Genetic polymorphism in ornithine decarboxylase and risk of breast cancer. Fam Cancer. 8:307–311. 2009. View Article : Google Scholar : PubMed/NCBI
30	Zell JA, Ziogas A, Ignatenko N, et al: Associations of a polymorphism in the ornithine decarboxylase gene with colorectal cancer survival. Clin Cancer Res. 15:6208–6216. 2009. View Article : Google Scholar : PubMed/NCBI
31	Barry EL, Baron JA, Bhat S, et al: Ornithine decarboxylase polymorphism modification of response to aspirin treatment for colorectal adenoma prevention. J Natl Cancer Inst. 98:1494–1500. 2006. View Article : Google Scholar : PubMed/NCBI
32	Zell JA, McLaren CE, Chen WP, Thompson PA, Gerner EW and Meyskens FL: Ornithine decarboxylase-1 polymorphism, chemoprevention with eflornithine and sulindac, and outcomes among colorectal adenoma patients. J Natl Cancer Inst. 102:1513–1516. 2010. View Article : Google Scholar : PubMed/NCBI
33	Das D, De Fonseka N and Das I: Interactions of nitric oxide, free radicals and polyamines in the membrane pathology of schizophrenia. Biochem Soc Trans. 26:S1431998.PubMed/NCBI
34	Bermudo-Soriano CR, Vaquero-Lorenzo C, Diaz-Hernandez M, et al: SAT-1 −1415T/C polymorphism and susceptibility to schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry. 33:345–348. 2009.
35	Vaquero-Lorenzo C, Riaza Bermudo-Soriano C, Perez-Rodriguez MM, et al: Positive association between SAT-1 −1415T/C polymorphism and anxiety. Am J Med Genet B Neuropsychiatr Genet. 150B:515–519. 2009.PubMed/NCBI
36	Guipponi M, Deutsch S, Kohler K, et al: Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior. Am J Med Genet B Neuropsychiatr Genet. 150B:799–807. 2009. View Article : Google Scholar : PubMed/NCBI