Dataset Information

Analysis of SOD2 rs4880 Genetic Variant in Patients with Alzheimer's Disease.

ABSTRACT: A few gene loci that contribute to Alzheimer's Disease (AD) onset have been identified. Few studies have been published about the relationship between SOD2 rs4880 single nucleotide variant and AD, revealing inconsistent results. Therefore, the aim of the current study is to further examine the role of the SOD2 rs4880 in AD. We performed a case-control study with a total of 641 subjects (320 patients with probable AD, and 321 healthy controls). The statistical analysis was performed assuming five genetic models. The threshold for statistical significance was set at 0.05. The results revealed no association between SOD2 rs4880 and AD in any of the assumed genetic models that were examined [log-additive OR = 0.95 (0.76-1.19), over-dominant OR = 1.15 (0.85-1.57), recessive OR = 0.85 (0.59-1.22), dominant OR = 1.03 (0.72-1.47), and co-dominant OR1 = 1.10 (0.75-1.60) and OR2 = 0.90 (0.58-1.40)]. Adjustment for sex and subgroup analyses based on sex did not reveal any statistically significant results either. Based on our findings, SOD2 rs4880 does not appear to play a determining role in the risk of developing AD. Larger studies are warranted to elucidate the connection between rs4880 and AD.

SUBMITTER: Siokas V

PROVIDER: S-EPMC9600469 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Analysis of SOD2 rs4880 Genetic Variant in Patients with Alzheimer's Disease.

Siokas Vasileios V Stamati Polyxeni P Pateraki Georgia G Liampas Ioannis I Aloizou Athina-Maria AM Tsirelis Daniil D Nousia Anastasia A Sgantzos Markos M Nasios Grigorios G Bogdanos Dimitrios P DP Dardiotis Efthimios E

Current issues in molecular biology 20220921 10

A few gene loci that contribute to Alzheimer's Disease (AD) onset have been identified. Few studies have been published about the relationship between SOD2 rs4880 single nucleotide variant and AD, revealing inconsistent results. Therefore, the aim of the current study is to further examine the role of the SOD2 rs4880 in AD. We performed a case-control study with a total of 641 subjects (320 patients with probable AD, and 321 healthy controls). The statistical analysis was performed assuming five ...[more]

PMID: 36286017

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Project description:Background and Objectives: Oxidative stress induced by increased reactive oxygen species (ROS) production plays an important role in carcinogenesis. The entire urinary tract is continuously exposed to numerous potentially mutagenic environmental agents which generate ROS during their biotransformation. In first line defense against free radicals, antioxidant enzymes superoxide dismutase (SOD2) and glutathione peroxidase (GPX1) both have essential roles. Altered enzyme activity and decreased ability of neutralizing free oxygen radicals as a consequence of genetic polymorphisms in genes encoding these two enzymes are well described so far. This study aimed to investigate the association of GPX1 (rs1050450) and SOD2 (rs4880) genetic variants with the urothelial bladder cancer (UBC) risk independently and in combination with smoking. Furthermore, we aimed to determine whether the UBC stage and pathological grade were influenced by GPX1 and SOD2 polymorphisms. Material and Methods: The study population included 330 patients with UBC (mean age 65 ± 10.3 years) and 227 respective controls (mean age 63.4 ± 7.9 years). Single nucleotide polymorphism (SNP) of GPX1 (rs1050450) was analyzed using the PCR-RFLP, while SOD2 (rs4880) SNP was analyzed using the q-PCR method. Results: Our results showed that UBC risk was significantly increased among carriers of at least one variant SOD2 Val allele compared to the SOD2 Ala16Ala homozygotes (OR = 1.55, p = 0.03). Moreover, this risk was even more pronounced in smokers with at least one variant SOD2 Val allele, since they have even 7.5 fold higher UBC risk (OR = 7.5, p < 0.001). Considering GPX1 polymorphism, we have not found an association with UBC risk. However, GPX1 genotypes distribution differed significantly according to the tumor stage (p ˂ 0.049) and pathohistological grade (p ˂ 0.018). Conclusion: We found that SOD2 genetic polymorphism is associated with the risk of UBC development independently and in combination with cigarette smoking. Furthermore, we showed that GPX1 genetic polymorphism is associated with the aggressiveness of the disease.

Dataset Information

Analysis of SOD2 rs4880 Genetic Variant in Patients with Alzheimer's Disease.

Publications

Analysis of SOD2 rs4880 Genetic Variant in Patients with Alzheimer's Disease.

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