Afghanistan from a Y-chromosome perspective

Area of Science:

• Population Genetics
• Human Migration Studies
• Y-Chromosome Analysis

Background:

• Central Asia is a critical corridor for ancient human migrations and trade routes.
• Understanding Central Asian populations is key to Eurasian human dispersal.
• Genetic characterization of present-day Afghanistan's population is lacking.

Purpose of the Study:

• To genetically analyze 190 Pathan males from Afghanistan using high-resolution Y-chromosome markers.
• To estimate haplotype diversity for common Y-chromosome lineages (haplogroups R1a1a*-M198 and L3-M357).
• To investigate population structure and historical connections within Afghanistan and with neighboring regions.

Main Methods:

• Analysis of 190 Pathan males from Afghanistan.
• High-resolution Y-chromosome binary marker analysis.
• Estimation of haplotype diversity using 15 Y-specific STR loci.

Main Results:

• Observed Y-chromosome haplogroup distribution suggests genetic isolation in northern Afghan populations.
• Southern Afghans show greater genetic contact with Pakistani Pathans and Indian subcontinent migrations.
• Pathans from Afghanistan and Pakistan exhibit significant genetic similarities, dominated by haplogroup R1a1a*-M198 (>50%).
• High frequencies of R1a1a-M198 and presence of G2c-M357 in Pathans may indicate Khazar phylogenetic signals.
• Absence of E1b1b1a2-V13 lineage does not support claimed Greek ancestry.

Conclusions:

• Northern and southern Afghan Pathan populations display distinct genetic profiles, influenced by geography and external contacts.
• Strong genetic similarities exist between Pathans in Afghanistan and Pakistan.
• Phylogenetic signals suggest potential ancient links between Pathans, Khazars, and Ashkenazi groups, while refuting Greek ancestry claims.