Distinct genetic variation and heterogeneity of the Iranian population

PLoS Genet. 2019 Sep 24;15(9):e1008385. doi: 10.1371/journal.pgen.1008385. eCollection 2019 Sep.

Abstract

Iran, despite its size, geographic location and past cultural influence, has largely been a blind spot for human population genetic studies. With only sparse genetic information on the Iranian population available, we pursued its genome-wide and geographic characterization based on 1021 samples from eleven ethnic groups. We show that Iranians, while close to neighboring populations, present distinct genetic variation consistent with long-standing genetic continuity, harbor high heterogeneity and different levels of consanguinity, fall apart into a cluster of similar groups and several admixed ones and have experienced numerous language adoption events in the past. Our findings render Iran an important source for human genetic variation in Western and Central Asia, will guide adequate study sampling and assist the interpretation of putative disease-implicated genetic variation. Given Iran's internal genetic heterogeneity, future studies will have to consider ethnic affiliations and possible admixture.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Consanguinity
  • Ethnicity / genetics*
  • Female
  • Genetic Variation / genetics*
  • Genetics, Population / methods
  • Genome-Wide Association Study / methods
  • Humans
  • Iran / ethnology
  • Male
  • Middle Aged

Grants and funding

This work was supported by Deputy of Research, University of Social Welfare and Rehabilitation Sciences (grant number: 95/801/T/32058) to H.N., Iran National Science Foundation (grant number: 950022) to H.N., (grant number: 92035782) to K.K. We also thank Iran’s National Elites Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.