Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucoma

Szaflik, Jacek P.; Cuchra, Magda; Przybyłowska-Sygut, Karolina; Dziki, Łukasz; Kurowska, Anna; Gacek, Mira; Drzewoski, Józef; Szaflik, Jerzy; Majsterek, Ireneusz

doi:10.1016/j.mrgentox.2012.12.019

Cited by 14 publications

(16 citation statements)

References 43 publications

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“…To the best of our knowledge, there is no additional data that confirms the role of this polymorphism in development of neurodegenerative diseases. The results of this study confirmed the results of our preliminary study [48].…”

Section: Discussionsupporting

confidence: 91%

“…The results of this study confirmed our previous preliminary data [48] that the presence of the 399Arg/Gln genotype as well as the 399Gln allele of the XRCC1 gene is associated with an increased risk of POAG development. On the contrary, the results from our investigations did not confirm the results from the Güven et al's [49] study.…”

Section: Discussionsupporting

confidence: 91%

“…In this study, we suggested that 194Arg/Trp XRCC1 has no influence on the risk of POAG in the Polish population. The results of these data enhanced the results of our preliminary study [48]. However, no previous studies concerning the role of the 194Arg/Trp XRCC1 gene polymorphism and the risk of POAG development have been published.…”

Section: Discussionsupporting

confidence: 85%

“…However, Coppedè et al showed a lack of association between the 326Ser/Cys OGG1 gene polymorphism and the risk of Alzheimer's and Parkinson's diseases [55,56]. The results from the presented data confirmed our preliminary study regarding the lack of association between the 326Ser/Cys OGG1 gene polymorphism and the risk of POAG development in the Polish population [48].…”

Section: Discussionsupporting

confidence: 85%

See 3 more Smart Citations

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

Cuchra

Markiewicz

Mucha

et al. 2015

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 85%

Section: Discussionsupporting

confidence: 85%

See 2 more Smart Citations

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

Cuchra

Markiewicz

Mucha

et al. 2015

Mutation Research/Fundamental and Molecular Mechanisms of Mutag

Self Cite

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“…POAG in PXS has been shown to have a more serious clinical course than POAG without PXS 29 . Higher age, positive family history 30,31 , high myopia, increased IOP together with PXS have been associated with a higher incidence of POAG. With the increasing number of elderly in the population, an increase of POAG and pseudoexfoliation glaucoma (PXG) is expected in the future.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in Population of North-West Croatia Aged 40 and Over

Pavičić-Astaloš

Koluder

Knežević

et al. 2016

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A total of 5349 subjects aged 40 or above presenting for general ophthalmic examination were screened for pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Each patient underwent complete ophthalmologic examination including ocular history, visual acuity testing, slit-lamp examination, applanation tonometry, optic disc evaluation, visual fi eld analysis, and gonioscopy if glaucoma was suspected. Exclusion criteria were pseudophakic and/or aphakic patients of any age, patients with concomitant congenital eye disease, and patients with very dense ocular media opacities. Out of 5349 patients examined, there were 1994 (38.38%) males and 3201 (61.61%) females. Th e prevalence of pseudoexfoliation syndrome was 3.6% and primary open angle glaucoma 9.4%, out of which 23.6% with pseudoexfoliation glaucoma. Th e fi ndings of this study improve our knowledge of pseudoexfoliation syndrome and pseudoexfoliation glaucoma in Croatia, particularly in the northwest region.

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Genetic Investigation of Polymorphic OGG1 and MUTYH Genes Towards Increased Susceptibility in Lung Adenocarcinoma and its Impact on Overall Survival of Lung Cancer Patients Treated with Platinum Based Chemotherapy

Singh

Behera

et al. 2017

Pathol. Oncol. Res.

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Genes OGG1 and MUTYH are the two primary genes in Base excision repair pathway. OGG1 hydrolyzes the sugar phosphate backbone and remove the damaged base creating abasic site. MUTYH complements OGG1 as it particularly remove adenine mispaired with 8-oxo-G. Both OGG1 and MUTYH act as a check for the mis-incorporation of bases may be due to damages incurred on DNA. DNA isolation for 326 lung cancer cases and 330 controls was followed by genotyping making use of PCR-RFLP. Logistic regression was done to analyze the risk towards lung cancer. Patients were followed through telephonic conversation. Kaplan meier and Cox-regression were used for survival analysis. OGG1 presented a high risk towards lung cancer (CG: OR = 2.44, p = 0.0003; CG + GG: OR = 1.88, p = 0.0093). On the same lines adenocarcinoma for OGG1 were potent risk factors towards lung cancer (CG: OR = 4.72, p = 0.0002; CG + GG: OR = 3.63, p = 0.0018). Single allelic carriers for MUTYH gene imposed a high risk towards overall lung susceptibility and for all the three histology. Stratified analysis for chemotherapeutic drugs revealed administration of Cisplatin/Carboplatin + Pemtrexed for OGG1Ser Cys showed a better survival (MST CG vs. CC: 9.1 vs. 0.56, p =<0.0001; HR =0.051, p = 0.0025). Whereas, MUTYH GlnHis showed a smaller survival for mutant genotype (CC) (MST CC vs. GG: 4.0 vs. 9.4, p = 0.05; HR = 1.75, p = 0.26). Single allelic carriers for both OGG1 and MUTYH were risk factors towards lung cancer. The risk was amplified on combining both OGG1 and MUTYH.

show abstract

Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His MUTYH gene polymorphisms with clinical parameters and the risk for development of primary open-angle glaucoma

Cited by 14 publications

References 43 publications

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

Prevalence of Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in Population of North-West Croatia Aged 40 and Over

Genetic Investigation of Polymorphic OGG1 and MUTYH Genes Towards Increased Susceptibility in Lung Adenocarcinoma and its Impact on Overall Survival of Lung Cancer Patients Treated with Platinum Based Chemotherapy

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