The Genetic Landscape of Autism in Iran: A Systematic Review
-
Delaram Barfeh
,
Armita Shahesmaeilinejad
,
Mahin Eslami Shahrbabaki
,
Anahita Karamooz
,
Fatemeh Shekari
,
Azam Zare Arashlouei
Abstract
Objective: Autism is a genetic disorder involving various genes. This study aims to investigate the role of genetic factors in Iranian patients with autism to help in more accurate diagnosis of this disease by identifying genes involved in Iranian patients.
Method: This study was conducted as a systematic review on patients with autism in Iran, including design and search strategy, systematic collection and review of articles, and quality assessment of studies for data extraction. The search strategy included databases such as PubMed, Scopus, and Web of Science using relevant keywords, and autism diagnosis was based on DSM-IV and DSM-5 criteria.
Results: In this study, genes RORA, MTRR, MTR, Reelin, VDR, VMAT1, ACE I/D, MOCOS, HOTAIR, ANRIL, RIT2, MMP-9, GRM7, FOXP3, and GRIN2B showed significant relationships with the occurrence of autism.
Conclusion: Given the dispersion and lack of coherence in studies on autism genetics in Iran, the definitive impact of each polymorphism in the Iranian population cannot be conclusively determined, and further studies are needed.
References
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1. Liu J, Yao L, Zhang W, Xiao Y, Liu L, Gao X, et al. Gray matter abnormalities in pediatric autism spectrum disorder: a meta-analysis with signed differential mapping. Eur Child Adolesc Psychiatry. 2017 Aug;26(8):933-945.
2. MacDonald M, Hatfield B, Twardzik E. Child behaviors of young children with autism spectrum disorder across play settings. Adapt Phys Activ Q. 2017 Jan;34(1):19-32.
3. Kim YS, Leventhal BL, Koh YJ, Fombonne E, Laska E, Lim EC, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatry. 2011 Sep;168(9):904-12.
4. Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, et al. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ. 2014 Feb 28;63(2):1-21.
5. Mohammadi MR, Ahmadi N, Khaleghi A, Mostafavi SA, Kamali K, Rahgozar M, et al. Prevalence and correlates of psychiatric disorders in a national survey of Iranian children and adolescents. Iran J Psychiatry. 2019;14(1):1-15.
6. Mohammadi MR, Ahmadi N, Khaleghi A, Zarafshan H, Mostafavi SA, Kamali K, et al. Prevalence of autism and its comorbidities and the relationship with maternal psychopathology: a national population-based study. Arch Iran Med. 2019 Oct;22(10):546-53.
7. Khaleghi A, Zarafshan H, Vand SR, Mohammadi MR. Effects of non-invasive neurostimulation on autism spectrum disorder: a systematic review. Clin Psychopharmacol Neurosci. 2020 Nov;18(4):527-52.
8. Zarafshan H, Mohammadi MR, Motevalian SA, Abolhassani F, Khaleghi A, Sharifi V. Autism research in Iran: a scientometric study. Iran J Psychiatry Behav Sci. 2017;11(2).
9. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004 May;113(5):e472-86.
10. Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of autism. JAMA. 2014 May 7;311(17):1770-7.
11. Mehdizadeh Fanid L, Adampourzare M, Shahrokhi H. Association of two common single nucleotide polymorphisms of Reelin gene, Intron 59 (C/T) and exon 22 (C/G), with autism spectrum disorder in a population sample of children of Iranian-Azeri. Cell Mol Res (Iranian Journal of Biology). 2018;31(1):76-81.
12. Zare S, Mashayekhi F, Bidabadi E. The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population. J Clin Neurosci. 2017 Feb;39:189-92.
13. Safari MR, Omrani MD, Noroozi R, Sayad A, Sarrafzadeh S, Komaki A, et al. Synaptosome-associated protein 25 (SNAP25) gene association analysis revealed risk variants for ASD in Iranian population. J Mol Neurosci. 2017 Sep;61(3):305-11.
14. Darvish H, Omidvar ME, Ghaedi E, Ghaedi H. Association of rs3735025 and rs9656169 variants with autism and schizophrenia: a GWAS-replication study in an Iranian population. Meta Gene. 2020 Dec;26:100784.
15. Mashayekhi F, Karbasizadeh V, Ashrafi E, et al. Association of SHANK3 rs9616915 polymorphism with increased risk of autism spectrum disorder in an Iranian population. J Neurogenet. 2021 Jul-Sep;35(3):180-90.
16. Kilpinen H, Ylisaukko-Oja T, Hennah W, et al. Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry. 2008 Feb;13(2):187-96.
17. Mohammadi M, Takaloo L, Vosoughi F, et al. Analysis of genetic variations in CDH9 and CDH10 genes in autism spectrum disorder patients: a case-control study. Iran J Child Neurol. 2020 Summer;14(3):51-60.
18. Ajabi S, Mashayekhi F, Bidabadi E. A study of MTRR 66A > G gene polymorphism in patients with autism from northern Iran. Neurology Asia. 2017;22(1).
19. Haghiri R, Mashayekhi F, Bidabadi E, Salehi Z. Analysis of methionine synthase (rs1805087) gene polymorphism in autism patients in Northern Iran. Acta Neurobiol Exp (Wars). 2016;76(4):318-323.
20. Mobasheri L, Moossavi SZ, Esmaeili A, Mohammadoo-Khorasani M, Sarab GA. Association between vitamin D receptor gene FokI and TaqI variants with autism spectrum disorder predisposition in Iranian population. Gene. 2020 May 5;723:144133.
21. Safari M, Noroozi R, Taheri M, Ghafouri-Fard S. The rs12826786 in HOTAIR lncRNA is associated with risk of autism spectrum disorder. J Mol Neurosci. 2020 Feb;70(2):175-9.
22. Firouzabadi N, Sayad A, Mahmoudi M, Salehi F, Karimi P, Najafi A. Genetic variants of angiotensin-converting enzyme are linked to autism: a case-control study. PLoS One. 2016;11(4):e0153667.
23. Taheri M, Noroozi R, Aghaei K, Omrani MD, Ghafouri-Fard S. The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder. Metab Brain Dis. 2020 Mar;35(3):497-501.
24. Safa A, Noroozi R, Taheri M, Ghafouri-Fard S. Association analysis of ANRIL polymorphisms and haplotypes with autism spectrum disorders. J Mol Neurosci. 2021 Jan;71(1):187-192.
25. Emamalizadeh B, Jamshidi J, Movafagh A, Ohadi M, Shekari Khaniani M, Kazeminasab S, et al. RIT2 Polymorphisms: Is There a
Differential Association? Mol Neurobiol. 2017;54:2234-2240.
26. Yazdandoost Hamedani S, Gharesouran J, Noroozi R, Sayad A, Omrani MD, Mir A, et al. Ras-like without CAAX 2 (RIT2): a susceptibility gene for autism spectrum disorder. Metab Brain Dis. 2017 Jun;32(3):751-755.
27. Rezaei Lord J, Mashayekhi F, Salehi Z. How matrix metalloproteinase (MMP)-9 (rs3918242) polymorphism affects MMP-9 serum concentration and associates with autism spectrum disorders: a case-control study in Iranian population. Dev Psychopathol. 2022 Aug;34(3):882-888.
28. Noroozi R, Taheri M, Movafagh A, Mirfakhraie R, Solgi G, Sayad A, et al. Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: a case-control study. Autism Res. 2016 Nov;9(11):1163-1170.
29. Safari MR, Ghafouri-Fard S, Noroozi R, Sayad A, Omrani MD, Komaki A, et al. FOXP3 gene variations and susceptibility to autism: a case-control study. Gene. 2016 Oct;595(2):262-267.
30. Pouyan Mehr D, Faraji N, Rezaei S, Keshavarz P. Single-locus and haplotype associations of GRIN2B gene with autism spectrum disorders and the demographic and clinical characteristics of patients in Guilan, Iran. J Autism Dev Disord. 2024 Feb;54(2):607-14.
31. Rahmani Z, Rahmani D, Saghaeian Jazi M, Ghasemi MR, Sadeghi H, Miryounesi M, et al. Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study. Sci Rep. 2024;14:28307.
32. Mashayekhi F, Mizban N, Bidabadi E, Salehi Z. The association of SHANK3 gene polymorphism and autism. Minerva Pediatr (Torino). 2021 Jun;73(3):251-255.
33. Noroozi R, Ghafouri-Fard S, Omrani MD, Habibi M, Sayad A, Taheri M. Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population. Gene. 2017 Aug 20;625:10-14.
34. Taheri M, Younesi Z, Moradi S, Honarmand Tamizkar K, Razjouyan K, Arsang-Jang S, Ghafouri-Fard S, Neishabouri SM. Altered expression of CCAT1 and CCAT2 lncRNAs in autism spectrum disorder. Gene Rep. 2021 Jun;23.
35. Atefrad S, Yousefnejad A, Faraji N, Keshavarz P. The association between NLGN4 gene variants and the incidence of autism spectrum disorders in Guilan, Iran. IBRO Neurosci Rep. 2025 Jun;18:306-10.
36. Rahnama M, Abdul-Tehrani H, Mohammadi MR, Mirzaie M, Jahandideh P, Memari A. Expression analysis of microRNAs as candidate biomarkers in Iranian children with autism spectrum disorder. J Neurorestoratol. 2024 Mar;12(1).
37. Beiranvandi F, Akouchekian M, Javadi GR, Darvish H. The association of CNTNAP2 rs2710102 and ENGRAILED-2 rs1861972 genes polymorphism and autism in Iranian population. Meta Gene. 2020 Jun;24.
38. Akbari M, Badrlou E, Eslami S, Mahmud Hussen B, Taheri M, Neishabouri SM, Ghafouri-Fard S. Association between angiotensin I converting enzyme gene polymorphisms and risk of autism in Iranian population. Hum Gene. 2022 Sep;33.
39. Salimi Asl M, Jafari Abarghan Y, Bakhtari N, Shohani S, Mohammadi M, Ghasemi S. Comprehensive genomic analysis of the novel PAX6:c.194G>A (p.Gly65Glu) mutation: Highlighting a potential association with aniridia and autism spectrum disorder. Gene Rep. 2025 Oct 8.
40. Arastehkani A, Jamshidi S, Taheri F, Akouchekian M. Does the same mitochondrial variation exist in both autism spectrum disorders and different types of malignancies? Res Autism. 2025 Sep.
41. Noroozi R, Taheri M, Movafagh A, Ghafouri-Fard S, Sayad A, Mirfakhraie R, Ayatollahi SA, Inoko H, Noroozi H, Abedin Do A, Abbasi Soureshjani A. Association analysis of the GABRB3 promoter variant and susceptibility to autism spectrum disorder. Basal Ganglia. 2018 Mar;11:4–7.
42. Naghiloo A, Gharesouran J, Shiva S, Pourabdollah V, Reyhanian A, Ghafouri-Fard S, Rezazadeh M. Compound heterozygous mutations in ADSL gene in a patient with autism spectrum disorder and epilepsy. Gene Rep. 2025 Mar;38.
43. Farhadi Rad H, Seyed Karimi M, Behfar M, Nazari A, Hassani N, Hasanvand A, Farhadi A. LncRNA Linc00261 sponge's miR-33-regulated PI3-kinase in autism disorder. Gene Rep. 2025 Mar;38.
44. Eftekhar M, Panahi Y, Salasar Moghaddam F, Eskandari MR, Pezeshk H, Pedram M. Substantial elevation of telomeric oxidized bases in childhood autism. Res Autism Spectr Disord. 2025 Jan;119.
45. Sadeghiyeh T, Dastgheib SA, Mirzaee-Khoramabadi K, Morovati-Sharifabad M, Akbarian-Bafghi MJ, Poursharif Z, Mirjalili SR, Neamatzadeh H. Association of MTHFR 677C > T and 1298A > C polymorphisms with susceptibility to autism: A systematic review and meta-analysis. Asian J Psychiatr. 2019 Dec;46:54–61.
46. Bay H, Haghighatfard A, Karimipour M, Seyedena SY, Hashemi M. Expression alteration of Neuroligin family gene in attention deficit and hyperactivity disorder and autism spectrum disorder. Res Dev Disabil. 2023 Aug;139.
47. Abedini M, Mashayekhi F, Salehi Z. Analysis of Insulin-like growth factor-1 serum levels and promoter (rs12579108) polymorphism in the children with autism spectrum disord
disorders. J Clin Neurosci. 2022 May;99:289–293.
48. Abbasy S, Shahraki F, Haghighatfard A, Ghasemzadeh Qazvini M, Towfigh Rafiei S, Noshadirad E, Farhadi M, Rezvani Asl H, Shiryazdi AA, Ghamari R, Tabrizi Z, Mehrfard R, Esmaili Kakroudi F, Azarnoosh M, Younesi F,
Parsamehr N, Garaei N, Abyari S, Salehi M, Gholami M, Partovi R. Neuregulin1 types mRNA level changes in autism spectrum disorder, and is associated with deficit in executive functions. EBioMedicine. 2018 Nov;37:483–488.
49. Razi B, Imani D, Hassanzadeh Makoui M, Rezaei R, Aslani S. Association between MTHFR gene polymorphism and susceptibility to autism spectrum disorders: Systematic review and meta-analysis. Res Autism Spectr Disord. 2020 Feb;70.
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| Files | ||
| Issue | Vol 21 No 1 (2026) | |
| Section | Review Article(s) | |
| DOI | https://doi.org/10.18502/ijps.v21i1.20567 | |
| Keywords | ||
| Autism Genetics Polymorphism | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Barfeh D, Shahesmaeilinejad A, Eslami Shahrbabaki M, Karamooz A, Shekari F, Zare Arashlouei A. The Genetic Landscape of Autism in Iran: A Systematic Review. Iran J Psychiatry. 2026;21(1):80-96.
