Distinct genetic variation and heterogeneity of the Iranian population

Mehrjoo, Zohreh; Fattahi, Zohreh; Beheshtian, Maryam; Mohseni, Marzieh; 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, Ali-Akbar; Najafipour, Reza; Niestroj, Lisa‐Marie; Helwing, Barbara; Gossmann, Yasmina; Toliat, Mohammad Reza; Malekzadeh, Reza; Nürnberg, Peter; Kahrizi, Kimia; Najmabadi, Hossein; Nothnagel, Michael

doi:10.1371/journal.pgen.1008385

Cited by 37 publications

(38 citation statements)

References 130 publications

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“…Investigation of genetic systems has been indicated a heterogeneity among Iranian population. Mehrjoo et al , in a genome-wide association study, indicated that there is a distinct genetic diversity and also heterogeneity of the population of Iranian [32]. Comparison of gene distributions with the small number of samples of Iranian population confirmed an intra-ethnic and wide overall genetic mixture in the Iranian population.…”

Section: Discussionmentioning

confidence: 96%

Prevalence of CCR5delta32 in Northeastern Iran

et al. 2019

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Background: A 32-base pair deletion (Δ32) in the open reading frame (ORF) of CC motif chemokine receptor 5 (CCR5) seems to be a protective variant against immune system diseases, especially human immunodeficiency virus type 1 (HIV-1). We aimed to assess the frequency of CCR5Δ32 in the healthy Iranian population. Methods: In this study, 400 normal samples from Khorasan, northeastern Iran, were randomly selected. The frequency of CCR5Δ32 carriers was investigated using PCR analysis. Allele prevalence and the fit to the Hardy-Weinberg equilibrium were analyzed. Results: The prevalence of CCR5Δ32 in the northeastern population of Iran was 0.016. Four hundred samples were studied, among which one with CCR5 Δ32/Δ32 and 11 with CCR5 Wild/Δ32 genotype were detected. Conclusion: This study was the first investigation for an assessment of the prevalence of CCR5Δ32 in northeastern Iran. The low prevalence of CCR5Δ32 allele in the Iranian population may result in the increased susceptibility to HIV-1. In addition, this prevalence is the same as that of reported in East Asia, while is lower than that in the Europeans.

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Section: Discussionmentioning

confidence: 96%

Prevalence of CCR5delta32 in Northeastern Iran

et al. 2019

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“…Here, a similar genetic pattern appears to be shaped by the corresponding geographic locations. Iran is a substantial resource for human genetic variations in Western Asia 27,28 , where the corresponding genomic variations were shown to have the most similarity to the European variations. Likewise, there is a shared Western Asian ancestry for the Western Asian peoples and early European farmers 28,29 , which may account for the detected similar genetic variations pattern between IR and EUR populations in our study.…”

Section: Discussionmentioning

confidence: 99%

High genetic burden of type 2 diabetes can promote the high prevalence of disease: a longitudinal cohort study in Iran

Bonab

Zahedi

Daneshpour

2020

Sci Rep

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Type 2 diabetes (T2D) is emerging as one of the serious public health issues in both developed and developing counties. Here, we surveyed the worldwide population differentiation in T2D-associated variants and assessed the genetic burden of the disease in an ongoing Tehran Cardio-Metabolic Genetic Study (TCGS) cohort represented the Iranian population. We found multiple SNPs that were significantly depleted or enriched in at least one of the five populations of 1,000 Genome Project (African, American, East Asian, European, and South Asian) as well as the Iranian population. Interestingly, TCF7L2, a well-known associated gene with T2D, harbors the highest number of enriched risk alleles almost in all populations except for East Asian, where this gene embraces the largest number of significantly depleted risk alleles. The polygenic risk score (PRS) of the enriched risk alleles was calculated for 1,867 diabetic and 2,855 non-diabetic participants in the TCGS cohort, interestingly demonstrating that the risk of developing T2D was almost two times higher in top PRS quintile compared with the lowest quintile after adjusting for other known risk factors. Type 2 diabetes (T2D) is one of the major life-threatening diseases globally, accounting for 4.2 million deaths worldwide in 2019 as assessed by International Diabetes Federation (IDF) consortium 1,2. According to the IDF report, among 20 countries belongs to the Middle East and North Africa (MENA) region, Iran is ranked third with the highest number of adults (5.4 million) who suffered from diabetes. The prevalence of diabetes in Iran's adult population was 11.4% in 2014, estimating 9.2 million Iranian individuals will have diabetes by the year 2030 3. Type 2 diabetes is a common multifactorial metabolic disease, resulting from both genetic and non-genetic (environmental) factors. The heritability of T2D ranges from 20 to 80%, suggesting the considerable role of genetic factors in the development of T2D; the heritable component of the disease is polygenic where many genes and their variants contribute to an enhanced risk of T2D development 4. The advent of high-throughput genotyping technologies has created a significant breakthrough in understanding the underlying genetic components of complex diseases, including T2D. A large number of common and low-frequency T2D susceptibility variants have been characterized by the genome-wide association studies (GWAS) and the whole-genome sequencing 5-9. Most of these variants are located near genes that were previously known to be involved in diabetes pathogenesis, such as TCF7L2, CDKAL1, CDKN1C, and IGF2BP2 10. Among them, TCF7L2 is responsible for the largest proportion of the T2D-associated variance in the various ethnic groups 11. TCF7L2 encodes a transcription factor played a central role in the Wnt signaling pathway to regulate glucose homeostasis 12. Since not all individuals are equally affected by type 2 diabetes through the unhealthy lifestyle and some are more sensitive than others, the corresponding genetic variants ...

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“…Verdu and colleagues (2014) analyze genetic data from Indigenous communities in North America, finding different timing and sources of admixture compared to admixed populations of Central and South America, consistent with differences in historically documented migrations [ 47 ]. In Iran, Mehrjoo and colleagues (2019) found substantial population structure and variable levels of consanguinity across ethnic groups, highlighting the need to consider how population structure relates to cultural groups [ 49 ]. As cultural groups and customs within these groups shift over time, cultural transitions can further complicate the admixture process.…”

Section: Introductionmentioning

confidence: 99%

Human genetic admixture

Korunes

Goldberg

2021

PLoS Genet

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Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome within an individual. Recent methodological and empirical developments have elucidated the genomic signatures of this admixture process, bringing previously understudied admixed populations to the forefront of population and medical genetics. Under this theme, we present a collection of recent PLOS Genetics publications that exemplify recent progress in human genetic admixture studies, and we discuss potential areas for future work.

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Distinct genetic variation and heterogeneity of the Iranian population

Cited by 37 publications

References 130 publications

Prevalence of CCR5delta32 in Northeastern Iran

Prevalence of CCR5delta32 in Northeastern Iran

High genetic burden of type 2 diabetes can promote the high prevalence of disease: a longitudinal cohort study in Iran

Human genetic admixture

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