Researchers Günsel, Ergören,Kemal, Kafshboran, Cerit, Turgay and Duygu from Near East University have conducted a comprehensive study investigating the frequency and allele frequency spectrum of single nucleotide variants associated with recessive disease carrier status in Turkish Cypriot exomes. Utilizing whole-exome sequencing, the study analyzed data from 100 Turkish Cypriot individuals, employing the same sequencing platform and data processing methodology.
The findings revealed pathogenic variants in 68 genes out of the 100 whole-exome sequences, with notable prevalence observed in genes such as CYP21A2, HBB, BTD, CFTR, and RBM8A, associated with various genetic disorders. The study highlights the importance of accurate interpretation and reporting of variants in exome and genome sequence analysis, a significant challenge in the genomic era.
Of particular significance is the identification of the CYP21A2 gene as having the highest carriage rate, associated with autosomal recessive congenital adrenal hyperplasia. This aligns with previous research indicating a heightened prevalence of CYP21A2 gene variations in populations such as Cyprus, Italy, and Middle European populations. Additionally, the study underscores the effectiveness of premarital screening programs in reducing the incidence of genetic conditions like β-thalassemia in Northern Cyprus.
The study’s outcomes hold implications for personalized medicine and public health initiatives, providing valuable data for healthcare planning, genetic counseling, and early detection of genetic disorders. Furthermore, the identification of prevalent mutations in carrier individuals facilitates better healthcare management and supports the development of new therapies and interventions.
Despite some limitations, such as potential underestimation of carrier numbers and challenges in variant classification, the study represents a significant contribution to understanding the genetic landscape of the Turkish Cypriot population. It lays the groundwork for future research and informs preventive medicine practices and public health policies aimed at reducing the burden of genetic diseases and improving healthcare outcomes.
More Information:
https://www.mdpi.com/2073-4425/14/10/1967
