The role of HLA in Balkan endemic nephropathy

Gene ◽  
2021 ◽  
Vol 767 ◽  
pp. 145179
Author(s):  
Damir Dittrich ◽  
Marija Maskalan ◽  
Zeljko Kastelan ◽  
Hrvoje Palenkic ◽  
Zorana Grubic
Keyword(s):  
Balkan Endemic Nephropathy ◽  
Endemic Nephropathy

scholarly journals Balkan endemic nephropathy: Role of ochratoxins A through biomarkers

2006 ◽  
Vol 50 (6) ◽  
pp. 519-529 ◽  
Author(s):  
Marcel Castegnaro ◽  
Delphine Canadas ◽  
Terry Vrabcheva ◽  
Theodora Petkova-Bocharova ◽  
Ivan N. Chernozemsky ◽  
...  
Keyword(s):  
Balkan Endemic Nephropathy ◽  
Endemic Nephropathy

scholarly journals Molecular Markers in Upper Urothelial Carcinoma Associated to Balkan Endemic Nephropathy. Aristolochic Acid as the Major Risk Factor of the Worldwide Disease

2009 ◽  
Vol 9 ◽  
pp. 1360-1373 ◽  
Author(s):  
Ljubinka Jankovic Velickovic ◽  
Takanori Hattori ◽  
Vladisav Stefanovic
Keyword(s):  
Regression Analysis ◽  
Urothelial Carcinoma ◽  
Growth Stage ◽  
Aristolochic Acid ◽  
Balkan Endemic Nephropathy ◽  
Specific Cell ◽  
Ki 67 ◽  
High Stage ◽  
Endemic Nephropathy

The role of aristolochic acid in the etiology of Balkan endemic nephropathy (BEN) and associated upper urothelial carcinoma (UUC) was recently confirmed. The aim of this study was to determine the marker(s) specific for BEN-associated UUC. A total of 82 patients with UUC (38 from the BEN region and 44 control tumors) were included in the study. The Ki-67 index in BEN tumors correlated with the grade and multifocality (p< 0.05), but in regression analysis, only the grade of BEN tumor. The p53 index was significantly higher in BEN than in control tumors (p< 0.05), as well as the alteration of p53 (p< 0.05). BEN low-stage tumors, tumors without limphovascular invasion (LVI), and tumors of the renal pelvis had a higher p53 index than the control tumors (p< 0.05, 0.01, 0.05, respectively). The Ki-67 index was higher in control tumors with high-stage and solid growth than in BEN UUC (p < 0.050, 0.005). The Ki-67 correlated with the grade, growth, stage, LVI, and multifocality of UUC on the best way, but not with the group. In regression analysis, only multifocality of UUC had predictive influence on Ki-67 activity (p< 0.001). P53 correlated with the grade, growth, and group (p< 0.05). This investigation identifies the p53 pathway as the specific cell cycle marker involved in BEN-associated UUC.

scholarly journals Association of SOD2 (rs4880) and GPX1 (rs1050450) Gene Polymorphisms with Risk of Balkan Endemic Nephropathy and its Related Tumors

Medicina ◽  
2019 ◽  
Vol 55 (8) ◽  
pp. 435
Author(s):  
Biljana Dragicevic ◽  
Sonja Suvakov ◽  
Djurdja Jerotic ◽  
Zorica Reljic ◽  
Ljubica Djukanovic ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Balkan Endemic Nephropathy ◽  
Glutathione Peroxidase 1 ◽  
Endemic Nephropathy ◽  
Urothelial Tumors ◽  
Stage Renal Disease ◽  
End Stage ◽  
Superoxide Dismutase 2 ◽  
Carcinoma Risk

Background: Experimental data show that superoxide dismutase 2 (SOD2) is involved in ochratoxin (OTA)-induced nephrotoxicity, whereas clinical data indicate the role of SOD2 rs4880 or glutathione peroxidase 1 (GPX1) rs1050450 polymorphisms in end-stage renal disease and urothelial carcinoma risk, known to be the major complications of Balkan endemic nephropathy (BEN). Therefore, we hypothesized that SOD2 and GPX1 gene polymorphisms would influence the risk of BEN and its associated tumors. Materials and Methods: The study was conducted in 207 BEN patients and 86 controls from endemic areas. Results: Individuals with both copies of variant SOD2 allele, known for lower mitochondrial antioxidant protection, are at a significantly higher BEN risk (OR = 2.6, p = 0.021). No association was observed between GPX1 gene polymorphism and BEN risk. Combining SOD2 and GPX1 genotypes did not alter the risk of BEN development. Regarding the risk of urothelial tumors in BEN patients, none of the polymorphisms studied was significantly associated with the risk of these tumors. Conclusions: Polymorphism in SOD2 rs4880 gene affects the risk of BEN development. Hence, SOD2 genotyping could, together with a panel of other enzymes, be used as a biomarker of susceptibility in BEN areas.

Balkan endemic nephropathy and associated urinary tract tumours: a review on aetiological causes and the potential role of mycotoxins

2002 ◽  
Vol 19 (3) ◽  
pp. 282-302 ◽  
Author(s):  
A. Pfohl-Leszkowicz ◽  
T. Petkova-Bocharova ◽  
I. N. Chernozemsky ◽  
M. Castegnaro
Keyword(s):  
Urinary Tract ◽  
Potential Role ◽  
Balkan Endemic Nephropathy ◽  
Endemic Nephropathy

Karyomegaly of tubular kidney cells in human chronic interstitial nephropathy in Tunisia: respective role of Ochratoxin a and possible genetic predisposition

2004 ◽  
Vol 23 (7) ◽  
pp. 339-346 ◽  
Author(s):  
Wafa Hassen ◽  
Salwa Abid-Essafi ◽  
Abdellatif Achour ◽  
Noureddine Guezzah ◽  
Abdelfettah Zakhama ◽  
...  
Keyword(s):  
Ochratoxin A ◽  
Food Samples ◽  
Balkan Endemic Nephropathy ◽  
Unknown Aetiology ◽  
Tubular Epithelial Cells ◽  
Renal Tubular Epithelial Cells ◽  
Endemic Nephropathy ◽  
Interstitial Nephropathy ◽  
Renal Tubular

Karyomegalic nephropathy associated to bizarre enlargement of nuclei in renal tubular epithelial cells was first described by Mihatch in 1979. We present herein additional cases occurring in three siblings suffering from chronic interstitial nephropathy (CIN) of unknown aetiology where the renal biopsies showed numerous enlarged and hyperchromatic nuclei. CIN of unknown aetiology has been previously characterized and showed striking similarities with Balkan Endemic Nephropathy (BEN). Ochratoxin A (OTA) is a nephrotoxic mycotoxin suspected to be the causal agent of the BEN as well as the Tunisian CIN of unknown aetiology. OTA is incriminated in the onset of these disclosed cases of karyomegalic nephropathy since high OTA concentrations were found in blood (505.83 ng/ml, 102.63 ng/ml and 1023 ng/ml) and in urine (94.40 ng/ml and 10.18 ng/ml) of two of them. Moreover, we have investigated OTA in blood and urine as well as in food samples of the entire household (21 people). Our findings suggest (i) a link between OTA and the outcome of this karyomegalic nephropathy, and (ii) the possible involvement of a genetic factor since the three cases have the same haplotype B27/35.

scholarly journals Genetic clues to the etiology of Balkan endemic nephropathy: Investigating the role of ACE and AT1R polymorphisms

2010 ◽  
Vol 62 (4) ◽  
pp. 957-965
Author(s):  
Zorica Krcunovic ◽  
Ivana Novakovic ◽  
Nela Maksimovic ◽  
Danica Bukvic ◽  
Sanja Simic-Ogrizovic ◽  
...  
Keyword(s):  
Renin Angiotensin System ◽  
Study Groups ◽  
Balkan Endemic Nephropathy ◽  
Endemic Region ◽  
Angiotensin System ◽  
Ras Genes ◽  
Endemic Nephropathy ◽  
The Difference

Balkan endemic nephropathy (BEN) was recognized as a distinct entity more than 50 years ago, but the exact environmental and genetic causes of the disease remain elusive. Considering the role of the renin-angiotensin system (RAS) in the emergence of various nephropathies, in the present study we evaluated the possible association with BEN of polymorphisms in two RAS genes: I/D ACE (an angiotensin-converting enzyme) and A1166C AT1R (an angiotensin type 1 receptor). The study groups consisted of 48 BEN patients from the endemic region in the district of Kolubara, Serbia, 33 patients with other nephropathies and 42 healthy individuals. The ACE DD genotype was significantly more represented in the NBEN group (OR=5.447; 95%CI=1.862-15.932, p<0.01). The frequency of the AT1R CC genotype was higher in BEN patients compared to controls (0.104 vs. 0.048), but the difference was not significant. Though the analyzed polymorphisms are associated with certain nephropathies, we found no support for their specific role in BEN susceptibility.

scholarly journals Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben)

PRILOZI ◽  
2015 ◽  
Vol 36 (2) ◽  
pp. 101-108
Author(s):  
Rada G. Staneva ◽  
L. Balabanski ◽  
I. Dimova ◽  
B. Rukova ◽  
S. Hadjidekova ◽  
...  
Keyword(s):  
Vascular Tone ◽  
Tubulointerstitial Nephritis ◽  
Balkan Endemic Nephropathy ◽  
Epigenetic Changes ◽  
Methylation Analysis ◽  
Chronic Anemia ◽  
Endemic Nephropathy ◽  
Genetic And Environmental Factors ◽  
Mutant Genes

Abstract BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive. Our recent study aim to elucidate the possible epigenetic component in BEN development. Whole genome DNA array methylation analysis was applied to compare the methylation profiles of male and female BEN patients from endemic regions in Bulgaria and Serbia and healthy controls. All three most prominent candidate genes with aberrations in the epigenetic profile discovered with this study are involved in the inflammatory/immune processes and oncogenesis. These data are in concordance with the reported pathological alterations in BEN. This research supports the role of epigenetic changes in BEN pathology. Exome sequencing of 22.000 genes with Illumina Nextera Exome Enrichment Kit revealed three mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients which encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN.

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