Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome

Joshi, Dolly; Korgaonkar, Seema; Shanmukhaiah, Chandrakala; Vundinti, Babu Rao

doi:10.1007/s00277-015-2528-3

Cited by 9 publications

(6 citation statements)

References 26 publications

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“…Several studies have reported the association between genetic polymorphisms and MDS. DNA repair‐related genes XPA and XPD were found to be associated with the susceptibility of MDS . In addition, polymorphism in the antioxidant genes NQO1*2 was associated OS in MDS patients .…”

Section: Discussionmentioning

confidence: 99%

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PARP1 V762A polymorphism affects the prognosis of myelodysplastic syndromes

Gotoh

Minato

Saitoh

et al. 2020

European J of Haematology

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Objective: Myelodysplastic syndromes (MDS), caused by various genetic mutations in hematopoietic stem cells, are associated with highly variable outcomes. Poly (ADP-ribose) polymerase-1 (PARP1) plays an important role in DNA damage repair and contributes to the progression of several types of cancer. Here, we investigated the impact of PARP1 V762A polymorphism on the susceptibility to and prognosis of MDS.Methods: Samples collected from 105 MDS patients and 202 race-matched healthy controls were subjected to polymerase chain reaction-restriction fragment length polymorphism for genotyping. Results:The allele and genotype frequencies of PARP1 V762A did not differ between MDS patients and the control group. However, MDS patients with the PARP1 V762A non-AA genotype, which is associated with high gene activity, had shorter overall survival rates (P = .01) than those with the AA genotype. Multivariate analysis of overall survival also revealed PARP1 V762A non-AA genotype as a poor prognostic factor (P = .02). When patients were analyzed according to treatment history, the PARP1 V762A non-AA genotype was only associated with poor survival in patients who had received treatment (P = .02).Conclusion: PARP1 V762A polymorphism may be an independent prognostic factor for MDS, and a predictive biomarker for MDS treatment. K E Y W O R D S myelodysplastic syndromes, PARP1, polymorphism | 527 GOTOH eT al.

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Section: Discussionmentioning

confidence: 99%

“…DNA repair-related genes XPA and XPD were found to be associated with the susceptibility of MDS. 38,39 In addition, polymorphism in the antioxidant genes NQO1*2 was associated OS in MDS patients. 40 These reports suggest that DNA polymorphism is important for the susceptibility and clinical features of MDS.…”

Section: Discussionmentioning

confidence: 99%

PARP1 V762A polymorphism affects the prognosis of myelodysplastic syndromes

Gotoh

Minato

Saitoh

et al. 2020

European J of Haematology

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“…Although a number of studies have found a link between ERCC2 polymorphisms and the risk of certain types of leukemia, many researchers have discovered that the variant 751Gln allele is associated with an increased risk of AML. [8][9][10][11][12][13][14][15][16] Other studies, on the other hand, did not consider the ERCC2 genetic variants to be risk or protective factors for leukemia because they demonstrated that the presence of the ERCC2 751Gln allele had a protective effect in the development of AML. [17][18][19]…”

Section: Discussionmentioning

confidence: 99%

The impact of the ERCC2 Lys751Gln polymorphism on the risk of acute myeloid leukemia in an Iraqi patients

Jasiem

Al-Hussaini

2023

J. Contemp. Med. Sci.

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Objectives: AML is the only type of acute leukemia diagnosed in adults and is less common in children. It has the lowest survival rate. This study aimed to investigate the epidemiological risk factors for AML expansion comprise environmental factors, for instance, smoking , and therapy-related factors. Methods :The study was conducted on 70 acute myeloid leukemia patients—37 females and 33 males and on 30 healthy people—12 females and 18 males—as a control group. DNA was extracted from the study groups' whole blood samples using the gSYNCTM DNA Extraction Kit. The T751G polymorphism of the ERCC2 gene was determined by the PCR-RFLP technique. Results: In genetic analysis, it was shown that the carriers of allele Lys and genotype Lys/Lys have a lower risk of developing AML, while allele carriers Gln have an increased risk. The results showed the ERCC2 gene, Lys 751 Gln (T/G) heterozygous TG genotypes, and the G allele were significantly higher (P<0.05) in AML patients compared to the control group. In the sequencing of the region we studied, it was found that there is a site of diversity that is located between the CTTCAG and CTGCAG, where a change in nucleotides (T to G) represents the restriction site of the restriction enzyme. Conclusion : The polymorphic marker 751 Gln> Lys of the ERCC2 gene was associated with the development of AML in Iraqi patients. It was discovered that allele Lys genotype Lys/Lys carriers have a lower risk of developing AML, whereas allele Gln carriers have an increased risk.

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“…Limitations include the use of a clinical, non-dementia population which may include participants with other disorders that might impact the oxidative and BER pathway including multiple sclerosis, various neurological disorders and cancers [40,41,42,43]. It should be noted that the results obtained using PBMCs as study model may reflect the AD-associated processes that occur in the brain.…”

Section: Discussionmentioning

confidence: 99%

Associations between DNA Damage, DNA Base Excision Repair Gene Variability and Alzheimer's Disease Risk

Kwiatkowski

Czarny

Toma

et al. 2016

Dement Geriatr Cogn Disord

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Background: Increased oxidative damage to DNA is one of the pathways involved in Alzheimer's disease (AD). Insufficient base excision repair (BER) is in part responsible for increased oxidative DNA damage. The aim of the present study was to assess the effect of polymorphic variants of BER-involved genes and the peripheral markers of DNA damage and repair in patients with AD. Material and Methods: Comet assays and TaqMan probes were used to assess DNA damage, BER efﬁciency and polymorphic variants of 12 BER genes in blood samples from 105 AD patients and 130 controls. The DNA repair efficacy (DRE) was calculated according to a specific equation. Results: The levels of endogenous and oxidative DNA damages were higher in AD patients than controls. The polymorphic variants of XRCC1 c.580C>T XRCC1 c.1196A>G and OGG1 c.977C>G are associated with increased DNA damage in AD. Conclusion: Our results show that oxidative stress and disturbances in DRE are particularly responsible for the elevated DNA lesions in AD. The results suggest that oxidative stress and disruption in DNA repair may contribute to increased DNA damage in AD patients and risk of this disease. In addition, disturbances in DRE may be associated with polymorphisms of OGG1 and XRCC1.

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Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome

Cited by 9 publications

References 26 publications

PARP1 V762A polymorphism affects the prognosis of myelodysplastic syndromes

PARP1 V762A polymorphism affects the prognosis of myelodysplastic syndromes

The impact of the ERCC2 Lys751Gln polymorphism on the risk of acute myeloid leukemia in an Iraqi patients

Associations between DNA Damage, DNA Base Excision Repair Gene Variability and Alzheimer's Disease Risk

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