Mehrjoo, Zohreh ORCID: 0000-0003-3296-6283, 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 ORCID: 0000-0001-9226-1053, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael (2019). Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet., 15 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

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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. Author summary Based on genome-wide genotype data on over 1000 samples from eleven ethnic groups present in Iran and by comparison to reference data sets of both extant populations and ancient DNA samples, we show that the Iranian population comprises distinct genetic variation with respect to populations in close geographic proximity, a cluster of genetically largely overlapping ethnic groups as well as a number of strongly admixed groups. These observations, also corroborated by f3 migration statistics and other approaches, indicate genetic continuity of and limited influx into the cluster groups over several millennia, despite Iran's geographic position at a crossroads in West Asia. They also suggest, correspondingly, several instances of language adoption instead of demic replacement in the past. Future human genetic studies, both with a focus on population and medical genetics, will have to consider differences in heterogeneity, consanguinity and degree of admixture between the ethnic groups for an adequate design and interpretation.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Mehrjoo, ZohrehUNSPECIFIEDorcid.org/0000-0003-3296-6283UNSPECIFIED
Fattahi, ZohrehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beheshtian, MaryamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mohseni, MarziehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Poustchi, HosseinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ardalani, FaribaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jalalvand, KhadijehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arzhangi, SanazUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mohammadi, ZahraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khoshbakht, ShahrouzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Najafi, FaridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nikuei, PoonehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haddadi, MohammadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zohrehvand, ElhamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oladnabi, MortezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mohammadzadeh, AkbarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jafari, Mandana HadiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Akhtarkhavari, TaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gooshki, Ehsan ShamsiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haghdoost, AliakbarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Najafipour, RezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Niestroj, Lisa-MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Helwing, BarbaraUNSPECIFIEDorcid.org/0000-0001-9226-1053UNSPECIFIED
Gossmann, YasminaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toliat, Mohammad RezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Malekzadeh, RezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kahrizi, KimiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Najmabadi, HosseinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nothnagel, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-142323
DOI: 10.1371/journal.pgen.1008385
Journal or Publication Title: PLoS Genet.
Volume: 15
Number: 9
Date: 2019
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1553-7404
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Y-CHROMOSOME; POSITIVE SELECTION; MITOCHONDRIAL-DNA; EARLY FARMERS; CONSANGUINEOUS MARRIAGE; DEMOGRAPHIC HISTORY; ADMIXTURE; DIVERSITY; MIGRATION; PATTERNSMultiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14232

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