High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15260%2F25%3A73635217" target="_blank" >RIV/61989592:15260/25:73635217 - isvavai.cz</a>

Result on the web

<a href="https://www.mdpi.com/2227-9059/13/8/1960" target="_blank" >https://www.mdpi.com/2227-9059/13/8/1960</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/biomedicines13081960" target="_blank" >10.3390/biomedicines13081960</a>

Result language

angličtina

Original language name

High Prevalence of Autosomal Recessive Alport Syndrome in Roma Population of Eastern Slovakia

Original language description

Background/Objectives: Alport syndrome (AS) predominantly presents with X-linked inheritance worldwide. However, the epidemiological landscape remains poorly characterized, particularly among ethnic minority groups like the Roma minority in Slovakia. Our study aimed to investigate the inheritance patterns of AS in this region and determine whether a distinct pattern predominates. Methods: Selective genetic screening for pathogenic variants previously occurring in Slovakia was performed. Samples from patients with persistent (familial) hematuria +/- hearing loss who had not yet undergone biopsy or genetic testing were analyzed by high-resolution melting analysis. The prevalence of AS per million (pm) population was calculated by adding information on patients with previously confirmed AS. Results: Twenty-five new cases of ARAS, one digenic form, and two cases of XLAS were identified by screening. In total, we collected information on 46 patients with genetically or bioptically confirmed AS in the region of eastern Slovakia, corresponding to a prevalence of 29 pm population. The c.1598G&gt;A (p.Gly533Asp) pathogenic variant of the collagen type IV alpha 4 chain, which follows an autosomal recessive inheritance pattern, was the most prevalent variant that was exclusively confirmed in Roma patients (n = 35), suggesting a founder effect. Within the Roma community, the prevalence of ARAS (the most prevalent inheritance pattern) corresponds to 133 pm of the Roma population, based on midpoint population estimates. Conclusions: Our findings demonstrate a unique genetic profile of AS in the Roma population, characterized by a high prevalence of ARAS, with implications for genetic counseling and screening strategies.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10608 - Biochemistry and molecular biology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Biomedicines

ISSN

2227-9059

e-ISSN

—

Volume of the periodical

13

Issue of the periodical within the volume

8

Country of publishing house

CH - SWITZERLAND

Number of pages

12

Pages from-to

nestránkováno

UT code for WoS article

001559769800001

EID of the result in the Scopus database

2-s2.0-105014509186