An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus

Abstract Objective Type 2 diabetes mellitus (T2DM) showed a broad etiology that both environmental and genetic factors play a role in its predisposition. Purinergic receptors have been hypothesized to be included in the pathogenicity of T2DM. The current study evaluated the association of two varian...

Full description

Saved in:
Bibliographic Details
Main Authors: Homa Noori, Majid Rajabian, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad, Ramin Saravani
Format: Article
Language:English
Published: SpringerOpen 2025-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:https://doi.org/10.1186/s43042-025-00639-1
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1832571576202035200
author Homa Noori
Majid Rajabian
Mahdi Majidpour
Mahboobeh Sabeti Akbar-Abad
Ramin Saravani
author_facet Homa Noori
Majid Rajabian
Mahdi Majidpour
Mahboobeh Sabeti Akbar-Abad
Ramin Saravani
author_sort Homa Noori
collection DOAJ
description Abstract Objective Type 2 diabetes mellitus (T2DM) showed a broad etiology that both environmental and genetic factors play a role in its predisposition. Purinergic receptors have been hypothesized to be included in the pathogenicity of T2DM. The current study evaluated the association of two variants through the purinergic receptor P2X7 (P2RX7) gene with the incidence of T2DM in the population of Iran. Materials and methods We study includes 600 subjects as case and healthy groups clinically diagnosed with T2DM by clinicians referred to the diabetic clinic of Bu-Ali Hospital, Zahedan. DNA extraction followed by tetra amplification refractory mutation system polymerase chain reaction (Tetra ARMS-PCR) as a genotyping method. Results Regarding rs1718119, the codominant heterozygous (TC vs. TT), Dominant (TC + CC vs. TT), Over dominant (TC vs. TT + CC) and Allelic (C vs. T) inheritance models increased T2DM risk by 2.81, 2.94, 1.62, and 2.20 folds, respectively. Similarly, in the variant rs17525809 in the same models, the analysis showed that increased T2DM risk by 3.31, 2.56, 3.25, and 2.02 folds, respectively. Based on haplotype analysis, Crs1718119Crs17525809, Crs1718119Trs17525809 and Trs1718119Crs17525809 haplotypes significantly enhance T2DM risk by 3.97, 1.36 and 1.82 folds, respectively. Furthermore, the interaction analysis indicated that TCrs1718119/TCrs17525809, TCrs1718119/TTrs17525809 and TTrs1718119/TCrs17525809 genotype combinations strongly correlated with high T2DM risks by 7.80, 1.75 and 2.92 folds, respectively. Conclusions Our findings showed that both rs1718119T > C and rs17525809T > C increased the risk of T2DM in the Iranian population. Graphical abstract
format Article
id doaj-art-3be273de88c2442f9315584cf82526c8
institution Kabale University
issn 2090-2441
language English
publishDate 2025-01-01
publisher SpringerOpen
record_format Article
series Egyptian Journal of Medical Human Genetics
spelling doaj-art-3be273de88c2442f9315584cf82526c82025-02-02T12:27:44ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-01-012611910.1186/s43042-025-00639-1An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitusHoma Noori0Majid Rajabian1Mahdi Majidpour2Mahboobeh Sabeti Akbar-Abad3Ramin Saravani4Department of Biology, Payame Noor University of MashhadDepartment of Biology, Payame Noor University of TehranClinical Immunology Research Center of Zahedan University of Medical SciencesCellular and Molecular Research Center, Research Institute of Cellular and Molecular Sciences in Infectious Diseases, Zahedan University of Medical SciencesCellular and Molecular Research Center, Research Institute of Cellular and Molecular Sciences in Infectious Diseases, Zahedan University of Medical SciencesAbstract Objective Type 2 diabetes mellitus (T2DM) showed a broad etiology that both environmental and genetic factors play a role in its predisposition. Purinergic receptors have been hypothesized to be included in the pathogenicity of T2DM. The current study evaluated the association of two variants through the purinergic receptor P2X7 (P2RX7) gene with the incidence of T2DM in the population of Iran. Materials and methods We study includes 600 subjects as case and healthy groups clinically diagnosed with T2DM by clinicians referred to the diabetic clinic of Bu-Ali Hospital, Zahedan. DNA extraction followed by tetra amplification refractory mutation system polymerase chain reaction (Tetra ARMS-PCR) as a genotyping method. Results Regarding rs1718119, the codominant heterozygous (TC vs. TT), Dominant (TC + CC vs. TT), Over dominant (TC vs. TT + CC) and Allelic (C vs. T) inheritance models increased T2DM risk by 2.81, 2.94, 1.62, and 2.20 folds, respectively. Similarly, in the variant rs17525809 in the same models, the analysis showed that increased T2DM risk by 3.31, 2.56, 3.25, and 2.02 folds, respectively. Based on haplotype analysis, Crs1718119Crs17525809, Crs1718119Trs17525809 and Trs1718119Crs17525809 haplotypes significantly enhance T2DM risk by 3.97, 1.36 and 1.82 folds, respectively. Furthermore, the interaction analysis indicated that TCrs1718119/TCrs17525809, TCrs1718119/TTrs17525809 and TTrs1718119/TCrs17525809 genotype combinations strongly correlated with high T2DM risks by 7.80, 1.75 and 2.92 folds, respectively. Conclusions Our findings showed that both rs1718119T > C and rs17525809T > C increased the risk of T2DM in the Iranian population. Graphical abstracthttps://doi.org/10.1186/s43042-025-00639-1T2DMP2RX7Single-nucleotide polymorphism
spellingShingle Homa Noori
Majid Rajabian
Mahdi Majidpour
Mahboobeh Sabeti Akbar-Abad
Ramin Saravani
An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
Egyptian Journal of Medical Human Genetics
T2DM
P2RX7
Single-nucleotide polymorphism
title An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
title_full An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
title_fullStr An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
title_full_unstemmed An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
title_short An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
title_sort association study of polymorphisms in the p2rx7 gene in an iranian population with the risk of type 2 diabetes mellitus
topic T2DM
P2RX7
Single-nucleotide polymorphism
url https://doi.org/10.1186/s43042-025-00639-1
work_keys_str_mv AT homanoori anassociationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT majidrajabian anassociationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT mahdimajidpour anassociationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT mahboobehsabetiakbarabad anassociationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT raminsaravani anassociationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT homanoori associationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT majidrajabian associationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT mahdimajidpour associationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT mahboobehsabetiakbarabad associationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus
AT raminsaravani associationstudyofpolymorphismsinthep2rx7geneinaniranianpopulationwiththeriskoftype2diabetesmellitus