Objectives: This case-control study aims to clarify the impact of single nucleotide polymorphisms (SNPs) within the P2X7 gene on susceptibility to type 2 diabetes mellitus (T2DM) and to evaluate their association with diabetic complications.
Methods: This study is comprised with 200 T2DM cases and 200 healthy controls. Seven candidate SNP loci were screened, and TaqMan-MGB real-time PCR technology was used to determine the polymorphic variants of P2X7. Different genotype and allele frequencies were compared by Pearson's χ2 tests and logistic regression analysis.
Results: Three P2X7 SNPs were found to be associated with T2DM risk. Specifically, rs7958311 GA (OR = 1.323, p = 0.002), rs7958311 AA (OR = 1.508, p = 0.038), rs208294 CC (OR = 1.854, p = 0.042) showed a higher susceptibility to T2DM, whilst rs11065464 CA (OR = 0.614, p = 0.022) was associated with a reduced risk. Logistic regression analysis indicated that rs7958311 was linked to an increased risk for nephropathy (OR = 1.833, p = 0.022), but with a decreased risk for peripheral artery disease (OR = 0.550, p = 0.042). Additionally, rs208294 was identified as a risk factor for peripheral neuropathy (OR = 2.101, p = 0.016).
Conclusions: We found that P2X7 polymorphisms are significantly associated with the risk of T2DM and its complications, suggesting that targeting P2X7 may offer a novel therapeutic strategy for the prevention and personal treatment of T2DM.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0318134 | PLOS |
PLoS One
January 2025
Department of Laboratory Medicine, People's Hospital of Shenzhen Baoan District, Shenzhen, P. R. China.
Objectives: This case-control study aims to clarify the impact of single nucleotide polymorphisms (SNPs) within the P2X7 gene on susceptibility to type 2 diabetes mellitus (T2DM) and to evaluate their association with diabetic complications.
Methods: This study is comprised with 200 T2DM cases and 200 healthy controls. Seven candidate SNP loci were screened, and TaqMan-MGB real-time PCR technology was used to determine the polymorphic variants of P2X7.
J Pain
October 2024
Department of Medicine, The School of Clinical Medicine, Cambridge Institute for Medical Research, Cambridge, UK. Electronic address:
Front Immunol
July 2024
Clinic for Anesthesiology and Intensive Care Medicine, Ulm University Hospital, Ulm, Germany.
Introduction: Extracellular ATP (eATP) released from damaged cells activates the P2X7 receptor (P2X7R) ion channel on the surface of surrounding cells, resulting in calcium influx, potassium efflux and inflammasome activation. Inherited changes in the P2X7R gene () influence eATP induced responses. Single nucleotide polymorphisms (SNPs) of influence both function and signaling of the receptor, that in addition to ion flux includes pathogen control and immunity.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
Department of Medical Sciences, Section of Experimental Medicine, University of Ferrara, 44121 Ferrara, Italy.
P2X7 receptor activation by extracellular adenosine triphosphate (eATP) modulates different intracellular pathways, including pro-inflammatory and tumor-promoting cascades. ATP is released by cells and necrotic tissues during stressful conditions and accumulates mainly in the inflammatory and tumoral microenvironments. As a consequence, both the P2X7 blockade and agonism have been proposed as therapeutic strategies in phlogosis and cancer.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
FMUC-Faculty of Medicine, University Coimbra, 3004-504 Coimbra, Portugal.
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