DNA Damage/Repair and Polymorphism of the hOGG1 Gene in Lymphocytes of AMD Patients

Woźniak, Katarzyna; Szaflik, Jacek P.; Zaras, Malgorzata; Sklodowska, Anna; Janik-Papis, Katarzyna; Popławski, Tomasz; Błasiak, Janusz; Szaflik, Jerzy

doi:10.1155/2009/827562

Cited by 25 publications

(23 citation statements)

References 49 publications

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“…According to this study, oxidative stress was related to dry-type AMD. This was consistent with the previous hypothesis that oxidative stress is usually linked to dry-type AMD [34] .…”

Section: Discussionsupporting

confidence: 94%

Glutathione S-Transferase M1, GSTT1 and GSTP1 Genetic Polymorphisms and the Risk of Age-Related Macular Degeneration

Güven¹,

Görgün

Ünal

et al. 2011

Ophthalmic Res

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Purpose: To determine the possible effects of glutathione S-transferase (GST) M1, GSTT1 and GSTP1 genetic polymorphisms on the risk of developing age-related macular degeneration (AMD). Patients and Methods: This case-control study included a total of 120 patients with AMD (65 with dry-type AMD and 55 with wet-type AMD) and 198 disease-free controls. GSTM1 and GSTT1 polymorphisms were analyzed by using a multiplex polymerase chain reaction (PCR), and GSTP1 polymorphism was detected by real-time PCR assay. Results:GSTM1-null genotype was significantly associated with the development of AMD (p = 0.01, OR = 1.82, 95% CI = 1.14–2.91). Stratification by AMD subtypes revealed a significant relationship between GSTM1-null genotype and dry-type AMD (p = 0.02, OR = 1.98, 95% CI = 1.10–3.53). In a stepwise regression model, only GSTM1-null genotype was significantly associated with the development of AMD (p = 0.01, OR = 1.77, 95% CI = 1.11–2.81). Conclusions: Our findings suggest that genetic polymorphisms of GST may have a role in the development of AMD.

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“…According to this study, oxidative stress was related to dry-type AMD. This was consistent with the previous hypothesis that oxidative stress is usually linked to dry-type AMD [34] .…”

Section: Discussionsupporting

confidence: 94%

Glutathione S-Transferase M1, GSTT1 and GSTP1 Genetic Polymorphisms and the Risk of Age-Related Macular Degeneration

Güven¹,

Görgün

Ünal

et al. 2011

Ophthalmic Res

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“…46 Studies have reported that a SNP (rs3793784) in the ERCC6 gene is associated with a risk of age-related macular degeneration development, and OGG1 Cys/Cys genotype may be associated with increased risk of ARC. 16,26,49,50 But we did not find statistically significant difference of CNVs in ERCC6 and OGG1 between ARC patients and normal controls. The low CNV frequencies in ERCC6 and OGG1 other than CN ¼ 2 might be one reason an association could not be identified.…”

Section: Discussioncontrasting

confidence: 78%

“…To prevent additional DNA damage, all the steps described above were performed under dimmed light or in the dark. 26 The Comet images were observed at 4003 magnification under a fluorescence microscope (Leica, Solms, Germany) controlled by the image analysis system CASP, a program available on the web (www. casp.of.pl).…”

Section: Comet Assaymentioning

confidence: 99%

Copy Number Variations of DNA Repair Genes and the Age-Related Cataract: Jiangsu Eye Study

Jiang

Zhou

Yao

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. DNA damage is critical in the pathogenesis of agerelated cataract (ARC). This study examined the association of copy number variations (CNVs) of DNA repair genes with susceptibility to ARC in the Han Chinese.METHODS. Study participants were from the population-based Jiangsu Eye Study, which includes 780 ARC patients and 525 controls. DNA was extracted from blood for copy number (CN) assays using RT-PCR. The Comet assay was to assess DNA damage in peripheral lymphocytes. RESULTS.Novel CNV was detected in WRN. Initial analyses found that CN ¼ 3þ for WRN had an increased risk of ARC (odds ratio [OR] ¼ 1.88, P ¼ 0.02); CN ¼ 1 for HSF4 had an increased risk of ARC (OR ¼ 4.09, P ¼ 0.004). CN ¼ 3þ for WRN was associated with nuclear and posterior subcapsular cataract (OR ¼ 2.06, P ¼ 0.02; OR ¼ 3.72, P ¼ 0.02). CN ¼ 1 for HSF4 was associated with nuclear and posterior subcapsular cataract (OR ¼ 5.73, P ¼ 0.001; OR ¼ 6.80, P ¼ 0.01). The combination WRN and HSF4 CNVs markedly increased the risk of ARC; the OR was increased from 2.63 by HSF4 alone to 6.80 by combined WRN and HSF4 CNVs. However, after multiple testing correction, only HSF4 CNV was associated with ARC overall and with nuclear and posterior subcapsular cataract as well. The DNA damage in lymphocytes from ARC patients was significantly higher when compared to normal controls.CONCLUSIONS. HSF4 and WRN CNVs might be involved in ARC pathogenesis in the Han Chinese. These findings suggest the importance of DNA repair in ARC susceptibility and distinct risk factors in ARC subtypes. (Invest Ophthalmol Vis Sci. 2013; 54:932-938)

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“…The retina, particularly the macula, is an environment with elevated oxygen levels, prolonged exposure to irradiation, and the continual phagocytosis of photoreceptors (Beatty et al 2000). Previous studies have demonstrated DNA damage arising from oxidative stress to be a significant contributor to AMD Wozniak et al 2009). …”

Section: Introductionmentioning

confidence: 99%

In-depth analyses unveil the association and possible functional involvement of novel RAD51B polymorphisms in age-related macular degeneration

Chu

Meyerle

Liang

et al. 2014

AGE

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The contribution of DNA damage to the pathogenesis of age-related macular degeneration (AMD) has been reported. Recently, a genomewide association study detected the association of a single-nucleotide polymorphism (SNP) in RAD51B (rs8017304 A>G) with AMD. RAD51B is involved in recombinational repair of DNA double-strand breaks. We analyzed RAD51B influence on AMD using two cohorts from Caucasian and Han Chinese populations. The Caucasian set replicated the rs8017304 A>G association and revealed two novel AMD-associated SNPs in RAD51B, rs17105278 T>C and rs4902566 C>T. Under the dominant model, these two SNPs exhibit highly significant disease risk. SNP-SNP interaction analysis on rs17105278 T>C and rs4902566 C>T homozygous demonstrated a synergistic effect on AMD risk, reaching an odds ratio multifold higher than wellestablished AMD susceptibility loci in genes such as CFH, HTRA1, and ARMS2. Functional study revealed lower RAD51B mRNA expression in cultured primary human fetal retinal pigment epithelium (hfRPE) carrying rs17105278 T>C variants than in hfRPE carrying rs17105278 wild type. We concluded that the risk of developing AMD exhibits dose dependency as well as an epistatic combined effect in rs17105278 T>C and rs4902566 C>T carriers and that the elevated risk for rs17105278 T>C carriers may be due to decreased transcription of RAD51B. This study further confirms the role of DNA damage/DNA repair in AMD pathogenesis.

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DNA Damage/Repair and Polymorphism of the hOGG1 Gene in Lymphocytes of AMD Patients

Cited by 25 publications

References 49 publications

Glutathione S-Transferase M1, <i>GSTT1</i> and <i>GSTP1</i> Genetic Polymorphisms and the Risk of Age-Related Macular Degeneration

Glutathione S-Transferase M1, <i>GSTT1</i> and <i>GSTP1</i> Genetic Polymorphisms and the Risk of Age-Related Macular Degeneration

Copy Number Variations of DNA Repair Genes and the Age-Related Cataract: Jiangsu Eye Study

In-depth analyses unveil the association and possible functional involvement of novel RAD51B polymorphisms in age-related macular degeneration

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