Polymorphisms of DNA repair genes XPD and XRCC1 and risk of cataract development

Ünal, Mustafa; Güven, Mehmet; Batar, Bahadır; Özaydın, Ahmet; Sarıcı, Ahmet; Devranoğlu, Kazım

doi:10.1016/j.exer.2007.06.003

Cited by 42 publications

(26 citation statements)

References 43 publications

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“…Zhang et al, in their study on diabetic patients reported that XPD Lys751Gln was not, however, the hOGG1 Ser326Cys polymorphism was associated with age related cataract [19]. The Gln allele of the XPD Lys751Gln was found to be significantly different in the mixed type cataract group in the Turkish population [20]. In the Turkish population, the hOGG1 Ser326Cys polymorphism might be associated with increasing risk of colorectal cancer, yet XPD Lys751Gln was not found related [21].…”

Section: Discussionmentioning

confidence: 99%

Investigation of DNA repair genes XPD and hOGG1 in type 2 Diabetes mellitus

Yigitbasi¹,

Yurdum²,

Yılmaz³

et al. 2017

Med-Science

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Increased oxidative stress in type 2 diabetes cause to the accumulation of DNA damage and results diabetic complications. Xeroderma pigmentosum complementation group D (XPD) and human oxoguanine glycosylase 1 (hOGG1) are genes involved in the repair of oxidative DNA damage. In this study, we aimed to evaluate association between XPD Lys751Gln and hOGG1 Ser326Cys polymorphisms with type 2 diabetes mellitus (T2DM) in the Turkish population. Seventy-one T2DM patients and 54 healthy individuals were incorporated into this study. DNA was extracted from whole blood. The Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (RFLP) techniques were used. There was statistically significant difference between patient and control groups in the genotype distribution of XPD Lys751Gln polymorphism (p˂0.05). While the Lys/Lys genotype was found significantly higher in control group, the Lys/Gln was higher in patients. (p˂0.05). There was no significant difference between groups in the genotype distribution of hOGG1 Ser326Cys polymorphism. Despite the small number of subjects included in the study, it could be interpreted that the Lys/Gln genotype of XPD Lys751Gln polymorphism may be contributing to the development of diabetes.

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Section: Discussionmentioning

confidence: 99%

Investigation of DNA repair genes XPD and hOGG1 in type 2 Diabetes mellitus

Yigitbasi¹,

Yurdum²,

Yılmaz³

et al. 2017

Med-Science

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“…And adjusted OR (odds ratio) at 95% confidence interval (CI) and P < 0.05. (Yang et al, 2007), gastric cancer (Ruzzo et al, 2007), skin cancers (McCarty et al, 2007), esophageal cancer (Ye et al, 2006), leukemia (Rzeszowska-Wolny et al, 2005), multiple myeloma (Hsieh et al, 2008) and cataract disease (Unal et al, 2007). In this study, the polymorphisms of XPD Lys751 Gln and XRCC1 Arg399Gln genes were analyzed which are nucleotide excision repair and base excision repair genes, respectively, with regard to their protective roles against the development of hematological malignancies.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of the DNA repair gene XPD (751) and XRCC1 (399) correlates with risk of hematological malignancies in Turkish population

Özcan¹,

Pehlıvan²,

Tomatir

et al. 2011

Afr. J. Biotechnol.

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Polymorphisms that occur in DNA repair genes affect DNA repair capacity and constitute a risk factor in hematological malignancies. This study, was aimed to investigate whether xeroderma pigmentosum complementation group D (XPD) and x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms were involved in the susceptibility to different hematological malignancies. The genotype and allele frequencies were obtained by analyzing XPD gene codon 751 in a total of 80 patients and XRCC1 gene codon 399 polymorphism in a total of 100 patients with hematological malignancies and 100 healthy controls. Mean age was 45 (range: 16 to 75) and 46 (range: 16 to 82) in the patients groups and 39.5 (range: 18 to 67) in the control group, respectively. Additionally, distribution of genotypes and alleles were compared in the patient and control groups. In the comparison of genotype and allele frequencies in hematological malignancies and healthy controls, XPD-751Gln variant was arranged and compared according to age and sex and Gln/Gln genotype was reported to be a protector, which was decreased significantly in acute myeloblastic leukemia (AML) (p = 0.042). No relationship was determined between allele frequencies (p = 0.054). In XRCC1-399, it was shown that Gln/Gln genotype was decreased significantly in AML (p = 0.014) plus all hematological malignancies (p = 0.033) and that Gln allele was present at a lower ratio in AML (p = 0.046). The distribution of polymorphism of both genes was not statistically significant in terms of age and sex. In leukemia with early relapse, XPD 751 Lys/Lys genotype was determined at a statistically higher ratio (p = 0.042). In the evaluation of both genes together, a decrease was noted in Gln/Gln + Lys/Gln haplotype frequency in hematological malignancies (p = 0.048). In this study, it was demonstrated that a decrease in Gln/Gln genotype and Gln allele acted as a protector in XPD codon 751 and XRCC1 codon 399 polymorphisms in acute myeloblastic leukemia (AML) and that an increase in Lys/Lys genotype in acute leukemia was associated with early relapse.

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“…these polymorphisms seemingly do not have other significant effect on the health of the carrier apart from increasing the risk for development of cancer in middle and advanced age (40,92). Some polymorphisms in the XPD gene (312Asn and, again, lys751Gln) may bring about an increase in the risk for senile cataract in carrier individuals, probably because of accelerated aging of the crystallins in the lens of the eye (81). Since risk of cancer generally increases with age, it is quite obvious that such polymorphic variants would fully exert their adverse effect late in life.…”

Section: Differential Role Of Dna Repair In Agingmentioning

confidence: 99%