Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F25%3A10500296" target="_blank" >RIV/00064165:_____/25:10500296 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10500296
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=DxgTv9gidQ" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=DxgTv9gidQ</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ymgme.2025.109191" target="_blank" >10.1016/j.ymgme.2025.109191</a>
Alternative languages
Result language
angličtina
Original language name
Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing
Original language description
Fabry nephropathy, a common complication of Fabry disease (FD), presents with a heterogeneous clinical phenotype. To date, genetic biomarkers associated with the progression of Fabry nephropathy have not been thoroughly investigated. The aim of our study was therefore to identify genetic variants associated with nephropathy progression in FD. A total of 300 Caucasian patients were enrolled and stratified into two groups based on their estimated glomerular filtration rate (eGFR). Whole-exome sequencing was performed, and variants in a curated panel of 190 genes related to podocyte homeostasis were subjected to bioinformatic analysis. We identified six genetic variants with a false discovery rate (FDR) below 0.05. Five of these variants were located in non-coding regions: the 3 ' untranslated region (UTR) (YRDC: rs7686, TPPP: rs28364690), the 5' UTR (SNCA: rs1372518), an upstream region (COL4A2: rs7320419), and a non-coding exon (DLC1: rs10888175). Each of these variants was associated with an odds ratio less than one, suggesting a potential protective effect against nephropathy progression. In contrast, the coding variant rs749735949 in the FAT1 gene (FDR = 0.032) was associated with an odds ratio of 14.9, indicating a markedly increased risk of progressive nephropathy in carriers. These findings suggest that rs749735949 in FAT1 may serve as a predictive biomarker for accelerated eGFR decline, and could support the identification of biological targets for the prevention and improved management of Fabry nephropathy.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Genetics and Metabolism
ISSN
1096-7192
e-ISSN
1096-7206
Volume of the periodical
145
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
109191
UT code for WoS article
001539034400001
EID of the result in the Scopus database
2-s2.0-105010314708