The <Emphasis Type="Italic">Arg</Emphasis>194<Emphasis Type="Italic">Trp</Emphasis> polymorphism in DNA repair gene XRCC1 and the risk for sporadic late-onset Alzheimer's disease |
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Authors: | S Do?ru-Abbaso?lu G Aykaç-Toker H A Hanagasi H Gürvit M Emre M Uysal |
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Institution: | 1.Department of Biochemistry,Istanbul Medical Faculty Istanbul University, ?apa,Istanbul,Turkey;2.Department of Neurology,Istanbul Medical Faculty Istanbul University,Istanbul,Turkey |
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Abstract: | Abstract Alzheimer's disease (AD) is defined pathologically by the presence of β-amyloid plaques, neurofibrillary tangles and extensive
neuronal loss. Evidence indicates that increased DNA damage may contribute to neuronal loss in AD. Recently, it has been shown
that in AD neurons have a reduced capacity for some types of DNA repair. Polymorphisms in DNA repair genes may be associated
with differences in repair efficiency of DNA damage. Variants of several DNA repair genes, including the base excision repair
gene XRCC1, have been described previously. We hypothesised that Arg194Trp polymorphism of XRCC1 gene may contribute to genetic susceptibility for AD. In order to test this hypothesis, we investigated
Arg194Trp polymorphism at the XRCC1 gene in the DNA samples of 98 patients with AD and 95 healthy subjects. The frequency of the Trp allele was more pronounced among cases (11.2%) compared with controls (5.8%). On combining the homozygous and heterozygous
variants of each codon, the variants seemed to be at twofold risk of AD, although the risk estimates were not statistically
significant (OR=1.95, 95% CI 0.88–4.34, p=0.09). In addition, the 194Trp allele revealed a borderline significance (OR=2.05, 95% CI 0.96–4.37, p=0.056). According to our results, it may be speculated that the polymorphic variants of XRCC1 codon 194 have a role in the
development of AD. |
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Keywords: | Alzheimer's disease (AD) Genetic polymorphism DNA repair XRCC1 |
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