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The contribution of the 5-hydroxytryptamine receptor 2 A gene polymorphisms rs6311 and rs6313 to Schizophrenia in Iran

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Abstract

Objective

Schizophrenia is an acute mental disorder with an undefined etiology. Its high heritability suggests that several genetic variants and polymorphisms may contribute to the severity and emergence of its symptoms. Former molecular evidence has shed some light on the association of serotonergic pathway genetic polymorphisms with schizophrenia. This study aimed to investigate the association between schizophrenia and two SNPs from one haplotype block, which lies in the 5-hydroxytryptamine receptor 2 A (5-HTR2A) gene in the Iranian population.

Material and methods

Blood samples were collected from one-hundred and fifty-two patients diagnosed with schizophrenia and one-hundred and fifty-eight cases of the healthy control, who were matched in terms of age and gender. The participants were genotyped for rs6311 and rs6313 using PCR-RFLP. R programming language and Haploview software were respectively leveraged for statistical and haplotype inferencing.

Results

The results showed that there was no significant association between rs6313 and schizophrenia. However, the rs6311 T allele was independently associated with schizophrenia, and it was significantly associated with SCZ in an rs6311-rs6313 haplotype. Moreover, the general linear model confirmed the potential predictor role of rs6311 for schizophrenia and the C allele of rs6313 demonstrated a higher frequency among females compared to males.

Conclusion

The findings of this study indicated the association of rs6311 and rs6311-rs6313 haplotype with schizophrenia in the Iranian population and also suggested a potential schizophrenia risk predictor role for rs6311.

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Acknowledgements

This research was supported by Tehran University of Medical Sciences under registered Grant 26440.

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Authors and Affiliations

  1. Department of Genomic Psychiatry and Behavioral Genomics (DGPBG), Roozbeh Hospital, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Sareh Massoud & Fatemeh Alizadeh

  2. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran

    Maryam Salmanian

  3. Department of Cellular and Molecular Biology, Faculty of Life Sciences and Biotechnologies, Shahid Beheshti University, Tehran, Iran

    Mobina Tabibian

  4. Department of Genetics, Faculty of Biology, Kharazmi University, Tehran, Iran

    Rana Ghamari

  5. Department of Biology-Genetics, Islamic Azad University, Science & Research Branch, Tehran, Iran

    Toktam Sadat Tavabe Ghavami

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  1. Sareh Massoud
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Contributions

Sareh Massoud, Maryam Salmanian, Mobina Tabibian, Toktam-Sadat Tavabe-Ghavami: data collecting and laboratory procedure, Rana Ghamari: data analysis and interpretation and writing the draft, Fatemeh Alizadeh: design, conceptualization of the experiment, and revision of the draft.

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Correspondence to Fatemeh Alizadeh.

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Massoud, S., Salmanian, M., Tabibian, M. et al. The contribution of the 5-hydroxytryptamine receptor 2 A gene polymorphisms rs6311 and rs6313 to Schizophrenia in Iran. Mol Biol Rep 50, 2633–2639 (2023). https://doi.org/10.1007/s11033-022-08222-2

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  • DOI: https://doi.org/10.1007/s11033-022-08222-2

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