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Distinct genetic variation and heterogeneity of the Iranian population

2019/09/24 by Zohreh Mehrjoo, Zohreh Fattahi, Maryam Beheshtian +27 · 68 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic Associations and Epidemiology #Genetic diversity and population structure #Genetic variation #Biology #Human genetic variation #Consanguinity #Evolutionary biology #Population #Ethnic group #Genetic genealogy #Genetic variability #Genetic heterogeneity #Population genetics #Founder effect #Variation (astronomy) #Genetics #Demography #Human genome #Allele #Genome #Genotype #Gene #Phenotype #Anthropology #Haplotype

paper · pdf · doi:10.1371/journal.pgen.1008385

published in PLoS Genetics 15(9), e1008385 (Public Library of Science)

openalex publication_date 2019/09/24 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/08

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.

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