Genome of Iran’s Population Characterized
Results of an international research endeavour will enable further research on genetic diseases and historical migration movements / Publication in ‘PLOS Genetics; https://doi.org/10.1371/journal.pgen.1008385’
A study jointly spearheaded by Professor Hossein Najmabadi, Professor Michael Nothnagel and their teams from the Genetics Research Center (GRC) at the University of Social Welfare and Rehabilitation Sciences, Tehran, Iran and the Cologne Center for Genomics (CCG) at the University of Cologne, Cologne, Germany, respectively, in 2017-2019, has for the first time provided a genome-wide genetic characterization of the Iranian population.
The data sets generated in this research will be valuable for follow-up research on rare and common genetic diseases. Besides fundamental medical research, the observed patterns will also help to elucidate past migration movements as well as the adoption of languages by local populations. The GRC and CCG teams collaborated with numerous other universities in Iran as well as the University of Sydney (Australia) in this project. The results appeared in PLOS Genetics under the title ‘Distinct genetic variation and heterogeneity of the Iranian population’.
‘The genetic information from Iran is particularly valuable because it fills a void of population-representative, genome-wide data for a large population in an important region of the world,’ principal scientists remarked. The teams analysed data on 1,021 volunteers whose parents and grandparents identified themselves as belonging to one of eleven Iranian ethnic groups, including large groups such as Iranian Persians and Azeri, but also smaller ones like Iranian Arabs, Baluchi, Gilaki and Kurds. These volunteers were sampled all over Iran. In addition, the authors put these genomic data in relation to published data from many other living human populations and from almost 800 excavated specimens originating from individuals who lived in the region and beyond thousands of years ago.
Iran has been at the crossroads of migrations since modern humans’ dispersal out of Africa. Moreover, it has repeatedly received migratory influx in the past millennia: Indo-European language speakers settled there, Arabs conquered the lands in the 7th century, and later Turkic-speaking people from Central Asia joined the population. As a result, today’s Iranian population comprises numerous ethnic, religious and linguistic groups. Furthermore, Iran has played an important cultural and political role in Western and Central Asia in the past millennia. However, despite its size, geographic location and past cultural influence, the country has largely been a blind spot for human population genetic studies in the past, resulting in sparse genetic information on the population.
Until recently, many scientists assumed the homogeneity of genetic variation across present-day Iranians. However, the new study shows that the distribution of this variation has deep roots, is much more nuanced and highly heterogeneous.
“Our data suggest the existence of a Central Iranian Cluster (CIC), notably also including Iranian Arabs and Azeris. The other four groups (Iranian Baluchis, Persian Gulf (PG) Islanders, Sistanis and Turkmen) showed as strongly admixed populations with contributions by different ancestral populations but always with an orientation towards the CIC, being strikingly different from the CIC and from each other, except for Baluchis and Sistanis who partially overlapped,” emphasized Hossein Najmabadi.
Hossein Najmabadi and his team at Genetics Research Center have started to detect genetic causes of monogenic disorders since 2002 which eventually led to the identification of over 200 novel genes particularly involved in Intellectual Disability and Hereditary Hearing Loss. Recently Hossein Najmabadi and his team established Iranian National Genome Center. Subsequently, they introduce a catalog of genomic variations in the Iranian population in 2018 which is called Iranome.
Michael Nothnagel’s research group at the Cologne Center for Genetics focuses on statistical genetics, including genetic epidemiology, population genetics and forensic genetics. It takes advantage of growing genome-wide datasets from genotyping and next-generation sequencing (NGS) as well as of specialized forensic genetic markers.
The collaboration of these two groups in this study has made important contributions to better understanding patterns of human genetic diversity and informative markers with application in forensic and medical genetics in terms of diagnosis as well as development of Precision Medicine.
This study was not possible except with the support and assistance of Deputy of Research and Technology, Ministry of Health and Medical Education and continuing supervision of Iran National Committee for Ethics in Biomedical Research at all stages of the project.
Prof. Hossein Najmabadi
Director of Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Press and Communications Team:
2018 workshop on
using animal models to understanding the function of human genes
4-5 Feb. 2018
First Day: Sunday 4 Feb. 2018
Second Day: Monday 5 Feb. 2018
Completion of the human genome project in 2003 and availability of the human genome sequence to the scientific community are important landmarks in the field of human genetics. Since then, by introducing new technologies such as microarray genotyping and next generation sequencing to the field, several human genome variation databases such as International HapMap, 1000 Genomes, NHLBI Exome, UK10K, ExAC and finally Genome Aggregation databases were made available to researchers worldwide. Human genome variation databases like these have been playing a crucial role in interpreting genetic variations in the human genome and understanding the genetic of human disorders. However, many ethnic groups are not represented in current human genome variation databases. It is well known that many human genome variations are ethnicity-specific and we can not build a complete picture of genetic variations in the human genome without having representatives from all different ethnic groups in those databases. In addition, lack of representatives from specific populations and ethnic groups in human genome databases may lead to marginalization of members of those populations, which might put them in danger of discrimination by depriving them of the benefits of new advances in genetic technologies and its associated medical advances. So from an ethical point of view, this project improves health equity at a national and global level.
Access to clinical genetic testing has been growing continuously worldwide since the introduction of next generation sequencing technology to the field of genetics about a decade ago. Widespread access to genetic testing will have a remarkable impact on realizing the vision of precision medicine to improve the prevention, diagnosis and treatment of human disorders, many of which have a genetic etiology. The benefits of precision medicine may not be realized for those groups who are not represented in current human genomic variation databases. With this in mind, the co-principal investigators on this project, from the Genetics Research Center (GRC) at the University of Social Welfare & Rehabilitation Sciences, Tehran, Iran and Dalla Lana School of Public Health at University of Toronto, Toronto, Ontario, Canada decided to establish the Iranome database (www.iranome.com) by performing whole exome sequencing on 800 individuals from eight major ethnic groups in Iran. The groups included 100 healthy individuals from each of the following ethnic groups: Arabs, Azeris, Balochs, Kurds, Lurs, Persians, Persian Gulf Islanders and Turkmen. They represent over 80 million Iranians and to some degree half a billion individuals who live in the Middle East, a region with rapid population growth expectations for the future (MENA Policy Brief, 2001). These ethnic groups are among the most underrepresented populations in currently available human genomic variation databases.
The Iranome Browser uses the open source code made initially for the ExAC browser by the laboratory of Dr. Daniel G. MacArthur at Broad Institute of MIT and Harvard Universities, Cambridge, Massachusetts, USA with some modifications made to it by Golden Helix Inc., Bozeman, Montana, USA. For more details please see the FAQ tab.
The list of investigators and organizations who have contributed to this project include:
Biomedical Ethics Consultant:
The 1th International and 9th National Iranian Neurogenetic Congress
President of the Max Planck institute for molecular genetics, Dr Hans Hilger Ropers granted an honorary doctorate from the University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Irans deputy health minister for research an technology was present in the ceremony.
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Update : 2018/1/16