Personalized Medicine Journal

SIRT1 rs7895833 and SOD1-50bp ins/del Gene vVariations in Age-Related Cataract Patients: A Case-Control Study

Leila Kohan; Sahar Sharghi; Afshin Karimi

Volume 9, Issue 32 , March 2024, , Pages 16-22

https://doi.org/10.22034/pmj.2024.2024055.1029

Abstract

Aim: Oxidative stress is one of the main factors has been implicated in pathophysiology of cataracts. Superoxide dismutase (SOD) can prepare the first line of defense versus detrimental ... Read More Aim: Oxidative stress is one of the main factors has been implicated in pathophysiology of cataracts. Superoxide dismutase (SOD) can prepare the first line of defense versus detrimental reactive oxygen species (ROS) and Sirtuin (SIRT) confers protection against oxidative stress and retinal degeneration. Correlation of SOD1-50bp ins/del and SIRT1-rs7895833 polymorphisms with risk of cataracts is not studied currently. Therefore, we aimed to explore possible relationship between SOD1 (50bp ins/del) and SIRT1 (rs7895833) polymorphisms with the risk of cataracts in Iranian population. Methods: Our study design consisted of 200 patients with age-related cataracts and 200 healthy individuals as a control group. After DNA extraction, the identification of polymorphisms was conducted using PCR-based methods and data analysis was done by SPSS software. Results: A significant difference in SOD1 DD genotype distribution was observed between studied groups (OR: 3.42, P:0.037), the D allele was more frequent in patients in comparison with controls (OR: 1.68, P:0.009). Also, in the dominant genetic model for the D allele (comparison between ID+DD vs. II), ID+DD genotypes increased the risk of cataracts (OR: 1.62, P: 034). The association between SIRT1-rs7895833 polymorphism and cataract was significant in the AG genotype (OR: 2.37, P<0.001) and G allele (OR: 1.97, P<0.001). The SIRT1-1 polymorphism increased the risk of cataracts in the dominant tested inheritance model (OR: 2.34, P<0.001). In the combined analysis of two polymorphisms, there is an additive effect of the high-risk putative alleles about the risk of cataracts. Risk estimation according to the number of high-risk alleles showed that χ2 for linear trend for 0, 1, 2, 3 and 4 putative high-risk alleles is equal to 20.10 (P<0.001). Conclusion: The results showed that for the first time, SIRT1 rs7895833 and SOD1-50bp ins/del gene variations had additive effects on the risk of cataracts.

Methylenetetrahydrofolate Reductase C677T (rs1801133) Polymorphism and Pemetrexed Treatment Outcome in Patients with Non–Small-Cell Lung Cancer

Mohammad Hadi Abbasian; Nafiseh Ansarinejad; Tayeb Ramim; Farshid Fardad; Bahareh Abbasi

Volume 6, Issue 23 , December 2021, , Pages 5-9

https://doi.org/10.22034/pmj.2021.249035

Abstract

Background: Lung cancer is the first cause of cancer deaths in the world. Pemetrexed is an antifolate drug used as a first or second-line in the treatment of advanced non-small cell ... Read More

A relationship between two polymorphisms (rs2660 and rs1800450) and coronavirus (COVID-19) in Iranian population

Zahra Sadeghi; Hossein Pakzad; Massoud Houshmand

Volume 6, Issue 21 , June 2021, , Pages 4-6

https://doi.org/10.22034/pmj.2021.244728

Abstract

Warning of the World Health Organization (WHO) indicates that novel coronavirus (COVID-19) is pandemic and causes global concern. COVID-19 has acute respiratory symptoms which ... Read More

Relationship between PAI1 promoter 4G/5g polymorphism and stroke

Sahar Hassannejad; Ehsan Razeghian; Najme Shojaei

Volume 5, Issue 17 , June 2020, , Pages 18-20

https://doi.org/10.22034/pmj.2020.43456

Abstract

PAI-1 has become recognized as a central molecule linking pathogenesis and progression of thrombotic vascular events, including stroke. Clinical and experimental studies show that PAI-1 ... Read More

IL7 receptor polymorphisms and Multiple sclerosis in Western Provinces of Iran

Mohammad Ali Saremi; Vahid Reza Esfahani

Volume 4, Issue 14 , September 2019, , Pages 18-20

https://doi.org/10.29252/pmj01026

Abstract

Multiple sclerosis (MS) is an autoimmune neurodegenerative disorder. The etiology of MS is not clear but genetic and epigenetic factors are involved in MS development. Studies have ... Read More

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Keywords = Polymorphism

SIRT1 rs7895833 and SOD1-50bp ins/del Gene vVariations in Age-Related Cataract Patients: A Case-Control Study

Abstract

Methylenetetrahydrofolate Reductase C677T (rs1801133) Polymorphism and Pemetrexed Treatment Outcome in Patients with Non–Small-Cell Lung Cancer

Abstract

A relationship between two polymorphisms (rs2660 and rs1800450) and coronavirus (COVID-19) in Iranian population

Abstract

Relationship between PAI1 promoter 4G/5g polymorphism and stroke

Abstract

IL7 receptor polymorphisms and Multiple sclerosis in Western Provinces of Iran

Abstract