Distinct genetic variation and heterogeneity of the Iranian population

• Published in: PLoS genetics Vol. 15; no. 9; p. e1008385
• Main Authors: Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nürnberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein, Nothnagel, Michael
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 24-09-2019; Public Library of Science (PLoS)
• Subjects: Adult; Aged; Bioinformatics; Biology and Life Sciences; Consanguinity; Data analysis; Disease; Earth Sciences; Economic models; Ethnic Groups - genetics; Female; Future predictions; Genetic aspects; Genetic diversity; Genetic research; Genetic variation; Genetic Variation - genetics; Genetics; Genetics, Population - methods; Genome-Wide Association Study - methods; Genomes; Genomics; Hospitals; Humans; Iran - ethnology; Iranians; Kurdish people; Language; Male; Medical ethics; Medicine; Middle Aged; Minority & ethnic groups; Mitochondrial DNA; Observations; People and Places; Population; Population genetics; Population studies; Rehabilitation; Social Sciences; Spatial data; Supervision; Iran; New York; United States > US; Germany
• ISSN: 1553-7404; 1553-7390; 1553-7404
• DOI: 10.1371/journal.pgen.1008385

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.