SEARCHSYSTEMATIC_REVIEWepidemiology, public health

systematic_review·epidemiology, public health, pediatrics, internal medicine, biomedical research·PMC10194840

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

Frontiers in Genetics · 7 authors, 2 centres

AI SUMMARY

FIDELITY 100%

This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.

AGENT 01 · STRUCTURED SUMMARY

TRACE TO SOURCE

“

TL;DR

This systematic review of the CTGA database analyzed genetic data from 11,875 Emirati subjects across 334 publications, identifying 665 different genetic disorders. The analysis highlights a high burden of recessive disorders, largely attributed to the population's high consanguinity rate.

Full summary

836 CHARS

The analysis included a total of 11,875 Emirati subjects diagnosed with 665 different genetic disorders or phenotypes. The study found that recessive disorders, particularly hemoglobinopathies, constitute a large proportion of cases, which is associated with the high rate of consanguineous unions (approximately 50%) in the population. It also identified rare disorders that are over-represented in the Emirati population and noted the presence of founder variants within specific tribes. Limitations include that the figure of 665 phenotypes does not include unpublished data, and the total subject count is a minimum confirmable number. The findings underscore the significant genetic disease burden in the UAE and provide a resource for understanding the genetic landscape and informing healthcare priorities like newborn screening.

STUDY TYPE

systematic_review

SPECIALTY

epidemiology

SUMMARISED BY

AI pipeline

FIDELITY CHECK

100% · A

ORIGINAL PAPER

PMC10194840

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

Frontiers in Genetics

READ THE FULL PAPER

ABSTRACT

Abstract Like many other Arab countries, the United Arab Emirates (UAE) has a relatively high prevalence of genetic disorders. Here we present the first review and analysis of all genetic disorders and gene variants reported in Emirati nationals and hosted on the Catalogue for Transmission Genetics in Arabs (CTGA), an open-access database hosting bibliographic data on human gene variants associated with inherited or heritable phenotypes in Arabs. To date, CTGA hosts 665 distinct genetic conditions that have been described in Emiratis, 621 of which follow a clear Mendelian inheritance. Strikingly, over half of these are extremely rare according to global prevalence rates, predominantly with an autosomal recessive mode of inheritance. This is likely due to the relatively high consanguinity rates within the Emirati population. The 665 conditions include disorders that are unique to the Emirati population, as well as clearly monogenic disorders that have not yet been mapped to a causal genetic locus. We also describe 1,365 gene variants reported in Emiratis, most of which are substitutions and over half are classified as likely pathogenic or pathogenic. Of these, 235 had not been reported on the international databases dbSNP and Clinvar, as of December 2022. Further analysis of this Emirati variant dataset allows a comparison of clinical significance as reported by Clinvar and CTGA, where the latter is derived from the study cited. A total of 307 pathogenic/likely pathogenic variants from CTGA’s Emirati dataset, were classified as benign, variants of uncertain significance, or were missing a clinical significance or had not been reported by Clinvar. In conclusion, we present here the spectrum of genetic disorders and gene variants reported in Emiratis. This review emphasizes the importance of ethnic databases such as CTGA in addressing the underrepresentation of Arab variant data in international databases and documenting population-specific discrepancies in variant interpretation, reiterating the value of such repositories for clinicians and researchers, especially when dealing with rare disorders. Keywords: variant, Emirati, database, variant annotation, rare disease

CITATION EXPORT

Sami Bizzari, Pratibha Nair, Sayeeda Hana et al.. Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database. Frontiers in Genetics. (2023). https://doi.org/10.3389/fgene.2023.1177204

AUTHORS

7 · 2 CENTRES

Sami Bizzari, Pratibha Nair, Sayeeda Hana, Asha Deepthi, Mahmoud Taleb Al-Ali, Lihadh Al-Gazali, Stephany El-Hayek

1 Centre for Arab Genomic Studies, Dubai, United Arab Emirates
2 Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates