Association of polymorphism of DNA repair gene XRCC1 with sporadic late-onset Alzheimer's disease and age of onset in elderly Han Chinese

Qian, Yun; Chen, Weixian; Wu, Jianqing; Tong, Tao; Bi, Liu; Xu, Wei; Qi, Hanmei; Wang, Yan; Guo, Lanwei

doi:10.1016/j.jns.2010.05.002

Cited by 25 publications

(20 citation statements)

References 31 publications

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“…In a Chinese population twice the size of the previous study, no significant association was found between this SNP and AD. The authors suggested that their results may indicate the presence of linkage disequilibrium with another polymorphism into or near a XRCC1 gene [44]. Our observations also confirmed the lack of a statistically significant association between this SNP and AD.…”

Section: Discussionsupporting

confidence: 88%

Variants of Base Excision Repair Genes MUTYH, PARP1 and XRCC1 in Alzheimer's Disease Risk

Kwiatkowski

Czarny²,

Gałecki³

et al. 2015

Neuropsychobiology

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Background: Many clinical studies have shown that oxidative stress pathways and the efficiency of the oxidative DNA damage base excision repair (BER) system are associated with the pathogenesis of Alzheimer's disease (AD). Reduced BER efficiency may result from polymorphisms of BER-related genes. In the present study, we examine whether single nucleotide polymorphisms (SNPs) of BER genes are associated with increased risk of AD. Methods: SNP genotyping was carried out on DNA isolated from peripheral blood mononuclear cells obtained from 120 patients with AD and 110 healthy volunteers. Samples were genotyped for the presence of BER-related SNPs, i.e. XRCC1-rs1799782, rs25487; MUTYH-rs3219489, and PARP1-rs1136410. Results: We found a positive association between AD risk and the presence of G/A genotype variant of the XRCC1 rs25487 polymorphism [odds ratio (OR) = 3.762, 95% CI: 1.793-7.891]. The presence of the A/A genotype of this polymorphism reduced the risk of AD (OR = 0.485, 95% CI: 0.271-0.870). In cases of the PARP1 gene rs1136410 polymorphism, we observed that the T/C variant increases (OR = 4.159, 95% CI: 1.978-8.745) while the T/T variant reduces risk (OR = 0.240, 95% CI: 0.114-0.556) of AD. Conclusions: We conclude that BER gene polymorphisms may play an important role in the etiology of AD. Diagnosing the presence or absence of particular genetic variants may be an important marker of AD. Further research on a larger population is needed. There is also a need to examine polymorphisms of other BER in the context of AD risk.

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Section: Discussionsupporting

confidence: 88%

Variants of Base Excision Repair Genes MUTYH, PARP1 and XRCC1 in Alzheimer's Disease Risk

Kwiatkowski

Czarny²,

Gałecki³

et al. 2015

Neuropsychobiology

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show abstract

“…It is widely accepted that AD is a complex disease and both genetic factors and environmental factors contribute to its inception and evolution [1][2][3][4]11,13,15,[17][18][19][20][21]24]. Environmental factors include ethnicity, gender, age, diet, family history of disease and so on.…”

Section: Discussionmentioning

confidence: 99%

“…Alzheimer's disease is the major cause of cognitive deterioration in the elderly and presents a substantial public health problem [1][2][3]. Its major characteristics include progressive synapse and neuronal loss, formation of neuritic plaques and neurofibrillary tangles [1,4].…”

Section: Introductionmentioning

confidence: 99%

The −1082G/A polymorphism in IL-10 gene is associated with risk of Alzheimer's disease: A meta-analysis

Zhang

Tian

et al. 2011

Journal of the Neurological Sciences

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“…We appreciate Dr. Coppedè's attention to our paper [1]. We have recently investigated the possible association between XRCC1 polymorphisms and late-onset Alzheimer's disease (LOAD).…”

Section: Xrcc1 Gene Polymorphisms In the Risk Of Alzheimer's Diseasementioning

confidence: 99%

XRCC1 gene polymorphisms in the risk of Alzheimer's disease

Qian

Chen

2011

Journal of the Neurological Sciences

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Association of polymorphism of DNA repair gene XRCC1 with sporadic late-onset Alzheimer's disease and age of onset in elderly Han Chinese

Cited by 25 publications

References 31 publications

Variants of Base Excision Repair Genes <b><i>MUTYH</i></b>, <b><i>PARP1</i></b> and <b><i>XRCC1</i></b> in Alzheimer's Disease Risk

Variants of Base Excision Repair Genes <b><i>MUTYH</i></b>, <b><i>PARP1</i></b> and <b><i>XRCC1</i></b> in Alzheimer's Disease Risk

The −1082G/A polymorphism in IL-10 gene is associated with risk of Alzheimer's disease: A meta-analysis

XRCC1 gene polymorphisms in the risk of Alzheimer's disease

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