Founder Variants of the Turkish

Area of Science:

• Population Genetics
• Medical Genetics
• Genomic Medicine

Background:

• Founder variants are critical for understanding genetic diseases in isolated populations.
• The Turkish population, situated at a demographic crossroads, exhibits a complex history of migration and admixture.
• Founder variants are frequently linked to autosomal recessive disorders and are concentrated in consanguineous subpopulations.

Purpose of the Study:

• To compile known founder variants within the Turkish population from existing literature.
• To analyze the historical origins of these variants considering Anatolian population dynamics.
• To discuss the implications of founder variants for genetic counseling, disease gene discovery, and precision medicine.

Main Methods:

• Literature review of published studies on founder variants in the Turkish population.
• Analysis of population dynamics and historical migration patterns in Anatolia.
• Synthesis of findings to interpret variant origins and implications.

Main Results:

• Numerous founder variants have been identified in the Turkish population, both domestically and internationally.
• These variants are predominantly associated with autosomal recessive conditions.
• A notable enrichment of founder variants is observed in subpopulations with high consanguinity rates.

Conclusions:

• Founder variants offer insights into the population genetics of Türkiye.
• Understanding these variants is crucial for advancing rare disease research in Middle Eastern and Euro-Asian populations.
• This knowledge supports the development of targeted genetic counseling and precision medicine strategies.