Afghanistan from a Y-chromosome perspective

Abstract

Central Asia has served as a corridor for human migrations providing trading routes since ancient times. It has functioned as a conduit connecting Europe and the Middle East with South Asia and far Eastern civilizations. Therefore, the study of populations in this region is essential for a comprehensive understanding of early human dispersal on the Eurasian continent. Although Y-chromosome distributions in Central Asia have been widely surveyed, present-day Afghanistan remains poorly characterized genetically. The present study addresses this lacuna by analyzing 190 Pathan males from Afghanistan using high-resolution Y-chromosome binary markers. In addition, haplotype diversity for its most common lineages (haplogroups R1a1a*-M198 and L3-M357) was estimated using a set of 15 Y-specific STR loci. The observed haplogroup distribution suggests some degree of genetic isolation of the northern population, likely due to the Hindu Kush mountain range separating it from the southern Afghans who have had greater contact with neighboring Pathans from Pakistan and migrations from the Indian subcontinent. Our study demonstrates genetic similarities between Pathans from Afghanistan and Pakistan, both of which are characterized by the predominance of haplogroup R1a1a*-M198 (450%) and the sharing of the same modal haplotype. Furthermore, the high frequencies of R1a1a-M198 and the presence of G2c-M377 chromosomes in Pathans might represent phylogenetic signals from Khazars, a common link between Pathans and Ashkenazi groups, whereas the absence of E1b1b1a2-V13 lineage does not support their professed Greek ancestry.

Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge

“…One of the important sub-haplogroups includes the C3b2b1-M401 lineage that is amplified in Hazara, Kyrgyz and Mongol populations. Haplogroup G2c-M377 reaches 14.7% in Pashtun, consistent with previous results [31], whereas it is virtually absent from all other populations. J2a1-Page55 is found in 23% of Iranians, 13% of the Hazara from the Hindu Kush, 11% of the Tajik and Uzbek from the Hindu Kush, 10% of Pakistanis, 4% of the Turkmen from the Hindu Kush, 3% of the Pashtun and 2% of the Kyrgyz and Mongol populations.…”

“…This region has been proposed to be the source of waves of migration leading into Europe, the Americas and India [36]. In such a context, the Y-chromosome studies conducted in Afghanistan by Lacau et al [30], [31] concluded that North Hindu Kush populations display some degree of genetic isolation compared to those in the South, and that Afghan paternal lineages reflect the consequences of pastoralism and recent historical events. However, these studies focused on the Pashtun and our results showed that this ethnic group is not representative of the other Afghan populations.…”

Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations

“…Also, most terminal West-Asian haplotypes germinate from other WestAsian collections. This is not surprising considering that the R1a1a-M198 mutation arose in either East Europe 8,21,22 or, alternately, a southern region of Central Asia 13,23 and is, today, very common in West Asia. As expected, and as we recently reported for Central and SouthAsian individuals, 23 the majority of the R1a1a-M198 Ladakh individuals (100% or 35/35) were R-Z93 (the Asian subclade).…”

“…8 Amplification reactions, capillary gel electrophoresis, size comparison, analytical designations were performed as indicated in a previous publication. 7 …”

Obesity genetics: insights from the Pakistani population

“…The second largest ethnic group, Pathan (Pushtun), inhabits the area near the West Indus River in the province of Khyber-Pakhtunkhwa. Subsets from the Pathan ethnic group seem to originate from European Greeks (24,25) and Afghans (26). The recent genome sequencing of one male Pathan from the North-West Province of Pakistan confirmed the admixture between European and Asian lineages (27).…”