ABSTRACT
The Roma are the most numerous ethnic minority in Europe. The Iberian Roma arrived in the Iberian Peninsula five centuries ago and still today, they keep a strong group identity. Demographic and cultural reasons lie behind a high rate of Mendelian disease often related to founder variants. We have analysed exome data from 119 Iberian Roma individuals collected from 2018 to 2020. A database of variant frequency has been implemented (IRPVS) and made available online. We have analysed the carrier rate of founder private alleles as well as pathogenic variants present in the general population. Significant enrichment in structural variants involving gene clusters related to keratinization and epidermal growth suggest that evolutive mechanisms have developed towards climate and environmental adaptation. IRPVS can be accessed at http://irpvs.clinbioinfosspa.es/
AUTHOR SUMMARY Reference data is necessary for the correct interpretation of genetic studies. Although most genetic variants are present in all populations, ancestry has an important impact in the genetic background. For that reason databases of genetic variant in populations are developed specifically for different ethnicities, being an important tool for genetic diagnosis. The Roma are the most numerous ethnic minority in Europe. In this study we have collected samples from healthy Roma individuals from Iberian descent and implemented a database of genetic variant to facilitate genetic diagnosis in this population. Analysis of structural variants that are specific to the Iberian Roma not found in other healthy population for which genetic data are available suggest evolution towards environmental adaptation.
Competing Interest Statement
The authors have declared no competing interest.
Funding Statement
This study has been funded by Instituto de Salud Carlos III through the projects PI16/00612 and PI20/01200 (MCS) (Co-funded by European Regional Development Fund/European Social Fund "A way to make Europe"/"Investing in your future") and Junta de Andalucia-Consejeria de Salud through the project PIER-0468-2019 (MCS). MCS has been supported by ISCIII (JR15/00042) and Junta de Andalucia-Consejeria de Salud (B-0005-2017), JD has been supported by grants PID2020-117979RB-I00 from the Spanish Ministry of Science and Innovation and IMP/00019 from the Instituto de Salud Carlos III (ISCIII). RC has been supported by Junta de Andalucia-Consejeria de Salud y Familias (RH-0052-2021) co-funded by the European Union, European Social Fund (FSE) 2014-2020.
Author Declarations
I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
Yes
The details of the IRB/oversight body that provided approval or exemption for the research described are given below:
. IRB approval was obtained from bioethics and scientific committees of Hospitales Virgen del Rocio-Macarena -Junta de Andalucia, Consejeria de salud, igualdad y politicas sociales. (VB CEI33160037)
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Yes
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DATA AVAILABILITY
Sequence data has been deposited at the European Genome-phenome Archive (EGA, see https://ega-archive.org/ last accessed December 5, 2022), under accession number EGAS00001006758.