NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy
Joint Authors
Djonov, V.
Staneva, R.
Čukuranović, Rade
Mihailova-Hristova, M.
Galabov, A.
Jankovic-Velickovic, Ljubinka
Jevtovic-Stoimenov, T.
Balabanski, L.
Polenakovic, M.
Ivanov, S.
Serbezov, D.
Djordjević, Vidosava B.
Plaseska-Karanfilska, D.
Stefanovic, Vladisav
Toncheva, D.
Simeonov, V.
Malinov, M.
Dimitrov, P.
Dimova, I.
Vazharova, R.
Karachanak, S.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-05-15
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal renal failure.
The results of molecular biological investigations propose that BEN is a multifactorial disease with genetic predisposition to environmental risk agents.
Exome sequencing of 22 000 genes with Illumina Nextera Exome Enrichment Kit was performed on 22 DNA samples (11 Bulgarian patients and 11 Serbian patients).
Software analysis was performed via NextGene, Provean, and PolyPhen.
The frequency of all annotated genetic variants with deleterious/damaging effect was compared with those of European populations.
Then we focused on nonannotated variants (with no data available about them and not found in healthy Bulgarian controls).
There is no statistically significant difference between annotated variants in BEN patients and European populations.
From nonannotated variants with more than 40% frequency in both patients’ groups, we nominated 3 genes with possible deleterious/damaging variants—CELA1, HSPG2, and KCNK5.
Mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients 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.
American Psychological Association (APA)
Toncheva, D.& Mihailova-Hristova, M.& Vazharova, R.& Staneva, R.& Karachanak, S.& Dimitrov, P.…[et al.]. 2014. NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy. BioMed Research International،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-508247
Modern Language Association (MLA)
Toncheva, D.…[et al.]. NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy. BioMed Research International No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-508247
American Medical Association (AMA)
Toncheva, D.& Mihailova-Hristova, M.& Vazharova, R.& Staneva, R.& Karachanak, S.& Dimitrov, P.…[et al.]. NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-508247
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-508247