NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy

Toncheva, D.; Mihailova-Hristova, M.; Vazharova, R.; Staneva, R.; Karachanak, S.; Dimitrov, P.; Simeonov, V.; Ivanov, S.; Balabanski, L.; Serbezov, D.; Malinov, M.; Stefanovic, V.; Cukuranović, R.; Polenakovic, M.; Jankovic-Velickovic, L.; Djordjevic, V.; Jevtovic-Stoimenov, T.; Plaseska-Karanfilska, D.; Galabov, A.; Djonov, Valentin; ... (2014). NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy. BioMed research international, 2014, p. 920723. Hindawi Publishing Corporation 10.1155/2014/920723

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Anatomy

UniBE Contributor:

Djonov, Valentin

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2314-6133

Publisher:

Hindawi Publishing Corporation

Language:

English

Submitter:

Ruslan Hlushchuk

Date Deposited:

09 Oct 2014 11:53

Last Modified:

26 Jun 2016 01:53

Publisher DOI:

10.1155/2014/920723

PubMed ID:

24949484

BORIS DOI:

10.7892/boris.54050

URI:

https://boris.unibe.ch/id/eprint/54050

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