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Juhász A Rimanóczy A Boda K Vincze G Szlávik G Zana M Bjelik A Pákáski M Bódi N Palotás A Janka Z Kálmán J 《Neurochemical research》2005,30(8):943-948
Multiple genetic and environmental factors regulate the susceptibility to Alzheimer’s disease (AD). Recently, several independent
studies have reported that a locus on chromosome 14q32.1, where a gene encoding a cholesterol degrading enzyme of the brain,
called 24-hydroxylase (CYP46A1) is located, has been linked with AD. The single nucleotide polymorphism (T/C) in intron 2
of CYP46 gene has been found to confer the risk for AD. The water soluble 24(S)-hydroxysterol is the product of the CYP46A1, and elevated plasma and cerebrospinal fluid hydroxysterol concentrations have
been found in AD, reflecting increased brain cholesterol turnover or cellular degradation, due to the neurodegenerative process.
A case–control study was performed on 125 AD and 102 age- and gender-matched control subjects (CNT) from Hungary, to test
the association of CYP46 T/C and apolipoprotein E (ApoE) gene polymorphisms in AD. The frequency of the CYP46 C allele was
similar (χ2=0.647, df=1, P=0.421, exact P=0.466, OR=0.845; 95% CI: 0.561–1.274) in both groups (CNT: 27%; 95% CI: 21.3–33.4; AD 30%; 95% CI: 25.0–36.3). The ApoE ɛ4
allele was significantly over-represented (χ2=11.029, df=2, P=0.004) in the AD population (23.2%; 95% CI: 18.2–29.0) when compared with the CNT (11.3%; 95% CI: 7.4–16.6). The presence
or absence of one or two CYP46C alleles together with the ApoE ɛ4 allele did not increase the risk of AD (OR=3.492; 95% CI:
1.401–8.707; P<0.007 and OR=3.714; 95% CI: 1.549–8.908; P<0.003, respectively). Our results indicate that the intron 2 T/C polymorphism of CYP46 gene (neither alone, nor together
with the ɛ4 allele) does not increase the susceptibility to late-onset sporadic AD in the Hungarian population. 相似文献
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The risk of fracture in individuals with Alzheimer’s disease had not been fully quantified. A systematic review and meta-analysis of cohort studies was performed to estimate the impact of Alzheimer’s disease on risk of fractures. Pubmed and Embase were searched for eligible cohort studies assessing the association between Alzheimer’s disease and risk of fractures. The overall relative risks (RRs) with 95% CIs were calculated using a random-effects model to evaluate the association. Six cohort studies with a total of 137,986 participants were included into the meta-analysis. Meta-analysis of a total of six studies showed that Alzheimer’s disease was significantly associated with two-fold increased risk of fractures (RR?=?2.18, 95 % CI 1.64–2.90, P?<?0.001; I 2?=?91.4 %). Meta-regression analysis showed that type of fractures was a source of heterogeneity (P?=?0.003). Meta-analysis of five studies on hip fracture showed that Alzheimer’s disease was significantly associated with 2.5-fold increased risk of hip fracture (RR?=?2.52, 95 % CI 2.26–2.81, P?<?0.001; I 2?=?25.2 %). There was no risk of publication bias observed in the funnel plot. There is strong evidence that Alzheimer’s disease is a risk factor of hip fracture. 相似文献
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Yan Hong Zhijun Ge Changrui Jing Jun Shi Xiao Dong Fengying Zhou Meilin Wang Zhengdong Zhang Weida Gong 《PloS one》2013,8(1)