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

Gürkan, Ajda Çoker; Arısan, Serdar; Arısan, Elif Damla; Unsal, Narcin Palavan

doi:10.3892/br.2013.184

Cited by 3 publications

(4 citation statements)

References 35 publications

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“…However, +316 G/A polymorphism of ODC cannot serve as a genetic biomarker of stone disease. The frequency of SNP genotypes was similar in urolithiasis and control groups [114]. Moreover, in the course of urolithiasis, changes in NOS expression have been observed, which was discussed above in Section 2 on oxidative stress.…”

Section: Urea Cycle and Polyamine Biosynthesissupporting

confidence: 53%

The Molecular Aspect of Nephrolithiasis Development

Wigner

Grębowski

Bijak

et al. 2021

Cells

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Urolithiasis is the third most common urological disease after urinary tract infections and prostate diseases, and it is characterised by an occurrence rate of about 15%, which continues to rise. The increase in the incidence of kidney stones observed in recent decades, is most likely caused by modifications in dietary habits (high content of protein, sodium and sugar diet) and lifestyle (reduced physical activity) in all industrialised countries. Moreover, men are more likely than women to be diagnosed with kidney stones. A growing body of evidence suggests that inflammation, oxidant–antioxidant imbalance, angiogenesis, purine metabolism and urea cycle disorders may play a crucial role in nephrolithiasis development. Patients with urolithiasis were characterised by an increased level of reactive oxygen species (ROS), the products of lipid peroxidation, proinflammatory cytokines as well as proangiogenic factors, compared to controls. Furthermore, it has been shown that deficiency and disorders of enzymes involved in purine metabolism and the urea cycle might be causes of deposit formation. ROS generation suggests that the course of kidney stones might be additionally potentiated by inflammation, purine metabolism and the urea cycle. On the other hand, ROS overproduction may induce activation of angiogenesis, and thus, allows deposit aggregation.

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Section: Urea Cycle and Polyamine Biosynthesissupporting

confidence: 53%

The Molecular Aspect of Nephrolithiasis Development

Wigner

Grębowski

Bijak

et al. 2021

Cells

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“…Other polymorphisms, such as in the CDH1 , VEGF , IL18 , IL1RA , MnSOD , ORAI1 , and TAP genes, have also been reported to be associated with kidney stone recurrence [ 38 – 42 , 44 , 52 ]. Alternatively, other studies found that ALPL , CYP17 , IGF2 , EGFR , IL1B , IL6 , ITPKC , MTNR1A , OPN , ODC , osteocalcin, RGS14 , SAT1 , TNFA , TRPV5 , and matrix Gla protein gene polymorphisms were not associated with kidney stone recurrence [ 9 , 34 , 38 – 43 , 46 , 47 , 49 , 50 ]. Meta-analysis was not possible for these gene polymorphisms owing to an insufficient number of studies for each variant.…”

Section: Resultsmentioning

confidence: 99%

“…In addition, several polymorphisms associated with kidney stone recurrence were only evaluated in a single study, such as in the androgen receptor (AR) gene [cytosine, adenine, guanine (CAG) repeat] [31], calcitonin receptor (CALCR) gene [AluI, IVS1-6T>C, IVS1insA, IVS5-17 (GTTT)3, IVS6A>G, IVS6G>A, IVS10+35-37delT, Ex13T>C, Ex13A>C, and 3 0 UTR+-18C>T] [32,33], calcium-sensing receptor (CASR) gene (A986S, E1011Q, R990G, rs1048213, rs1501899, rs17251221, rs6776158, rs7648041, rs7648044, rs7652589, and rs7627468) [34][35][36][37], e-cadherin (CDH1) gene (PmlI) [38], cytochrome P450c17α enzyme (CYP17) gene (MspAI) [39], epidermal growth factor receptor (EGFR) gene (BsrI) [39], estrogen receptor (ER) gene [thymine-adenine (TA) dinucleotide repeat] [31], insulin-like growth factor-2 (IGF2) gene (ApaI) [39], interleukin-18 (IL18) gene (-607C/A, -137G/C, and +105A/C) [40], IL-1 receptor antagonist (IL1RA) gene (intron 2 variable number of tandem repeats) [41], IL1B gene (promoter, exon 5, and rs16944) [41,42], IL6 gene (rs1800795, rs1800796, and rs1800797) [42], inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene (rs11673492, rs28493229, rs7257602, rs7251246, rs890934, rs10420685, rs2607420, and rs2290692) [43], manganese superoxide dismutase (Mn-SOD) gene (BsaWI) [44], melatonin receptor 1A (MTNR1A) gene (rs2119882, rs2375801, rs13140012, and rs6553010) [45], osteopontin (OPN) gene [9402 (Arg/His) and rs1126616] [46,47], Ca release-activated calcium channel protein 1 (ORAI1) gene (rs12313273) [48], ornithine decarboxylase (ODC) gene (+316 G/A) [49], osteocalcin gene (HindIII) [50], renal sodium-citrate (dicarboxylate) cotransporter (hNaDC1; SLC13A2) gene (I550V [51], rs11567842 [29]), regulator of G protein signaling 14 (RGS14) gene (rs12654812) [34], spermidine/spermine N1-acetyltransferase 1 (SAT1) gene (−1415 T/C) [49], transporter associated with antigen-processing (TAP) gene (DpnII, AccI, BstUI, MspI, and RsaI)…”

Section: Literature Search and Study Characteristicsmentioning

confidence: 99%

Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis

et al. 2021

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Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.

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“…Compared with psychically healthy individuals, tissue and body fluid concentrations of some PAs are altered in patients suffering from schizophrenia. Since single nucleotide polymorphisms in the intron region of ODC (+316 G>A) and the promoter region of the SAT1 encoding gene SAT (1415 T>C) genes are known to be associated with the expression levels of PAs[ 53 ], both gene polymorphisms might be potential genetic markers for susceptibility to schizophrenia. Only the SAT 1 gene polymorphism has been studied so far.…”

Section: Genetic Aspects Of Pa Metabolism In Schizophreniamentioning

confidence: 99%

Polyamines and polyamine-metabolizing enzymes in schizophrenia: Current knowledge and concepts of therapy

Bernstein¹,

Keilhoff²,

Laube³

et al. 2021

WJP

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Polyamines play preeminent roles in a variety of cellular functions in the central nervous system and other organs. A large body of evidence suggests that the polyamine pathway is prominently involved in the etiology and pathology of schizophrenia. Alterations in the expression and activity of polyamine metabolizing enzymes, as well as changes in the levels of the individual polyamines, their precursors and derivatives, have been measured in schizophrenia and animal models of the disease. Additionally, neuroleptic treatment has been shown to influence polyamine concentrations in brain and blood of individuals with schizophrenia. Thus, the polyamine system may appear to be a promising target for neuropharmacological treatment of schizophrenia. However, for a number of practical reasons there is currently only limited hope for a polyamine-based schizophrenia therapy.

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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

Cited by 3 publications

References 35 publications

The Molecular Aspect of Nephrolithiasis Development

The Molecular Aspect of Nephrolithiasis Development

Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis

Polyamines and polyamine-metabolizing enzymes in schizophrenia: Current knowledge and concepts of therapy

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