Founder Variants of the Turkish.

Abstract

Founder variants-disease-causing genetic variants inherited from a common ancestor-have been extensively documented in isolated populations, shedding light on population history, disease prevalence, and genetic drift. In the context of the Turkish population, which lies at the crossroads of Europe and Asia and has experienced a complex demographic history including migration, admixture, a significant number of founder variants have been identified in Türkiye as well as other countries hosting Turkish people. These variants are mostly associated with autosomal recessive disorders and are particularly enriched in subpopulations with high rates of consanguinity. This review aims to compile known founder variations in the Turkish population based on published literature, interpret their historical origins in light of Anatolian population dynamics, and discuss the implications of these variants for genetic counseling, disease gene discovery, and precision medicine. Understanding founder effects in the Turkish population not only provides insight into the nation's population genetics but also supports broader investigations into rare diseases in Middle Eastern and Euro-Asian populations.