Genetic risk factors of sporadic Alzheimer’s disease among Chinese in Taiwan

Hu, Chaur Jong; Sung, Su Whan; Liu, Hsing Cheng; Hsu, Wei Chen; Lee, Long Shyong; Lee, Cheng Chun; Tsai, Chang Hai; Chang, Jui‐Hsing

doi:10.1016/s0022-510x(00)00443-3

Cited by 29 publications

(17 citation statements)

References 30 publications

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“…However, a post hoc power calculation revealed that the present study has only sufficient statistical power to exclude an allele frequency difference of about 6% and the power is even less considering the fact that genegene interaction were investigated. Our data, however, support the findings of several other studies in which no increased AD risk was found to be associated with LRP1 CC genotype frequency [Woodward et al, 1998;Beffert et al, 1999;Bullido et al, 2000;Hatanaka et al, 2000;Hu et al, 2000;McIlroy et al, 2001;Perry et al, 2001;Sanchez-Guerra et al, 2001]. Kang et al [1997] also reported that, when APOE e4 homozygotes were left out of the analysis, the correlation between LRP1 gene and AD was strengthened.…”

supporting

confidence: 91%

“…This result has been confirmed by some subsequent studies [Baum et al, 1998;Hollenbach et al, 1998;Kamboh et al, 1998;Lambert et al, 1998], although the strength of association with AD was not a particularly strong one. Contradictory results have been reported from other studies [Woodward et al, 1998;Beffert et al, 1999;Bullido et al, 2000;Hatanaka et al, 2000;Hu et al, 2000;McIlroy et al, 2001;Perry et al, 2001;Sanchez-Guerra et al, 2001], while some authors found an association between exon 3 LRP1 gene polymorphism and AD modulated by APOE e4 allele and gender [Bullido et al, 2000;Hatanaka et al, 2000].…”

mentioning

confidence: 79%

“…However, it is noteworthy that the original association was only described in family history-positive AD patients [Kang et al, 1997], while subsequent studies comprised mainly sporadic or unrelated AD cases. Moreover, several conflicting studies did not support this association [Woodward et al, 1998;Beffert et al, 1999;Bullido et al, 2000;Hatanaka et al, 2000;Hu et al, 2000;McIlroy et al, 2001;Perry et al, 2001;Sanchez-Guerra et al, 2001], Lambert et al [1998] and Baum et al [1998] reported only a weak association between exon 3 LRP1 gene polymorphism and AD [Beffert et al, 1999;Bullido et al, 2000], and two metaanalysis based on seven and eight studies on exon 3 LRP1 gene polymorphism and AD showed that the C allele remains over-represented in AD patients when compared to controls (86.7% vs. 82.8%), but only with weak correlation to the disease (C allele: OR 1.34; CC genotype: OR 1.35) [Beffert et al, 1999;Bullido et al, 2000]. Therefore, it is possible that a moderate effect associated with the exon 3 LRP1 gene polymorphism is due to its non-random association with a functional mutation present somewhere in the gene.…”

mentioning

confidence: 99%

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Regional European differences in allele and genotype frequencies of low density lipoprotein receptor‐related protein 1 polymorphism in Alzheimer's disease

D’Introno

Colacicco

Capurso

et al. 2003

American J of Med Genetics Pt B

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The low density lipoprotein receptor-related protein 1 (LRP1 gene) is a candidate gene for Alzheimer's disease (AD), because it is a ligand for proteins involved in AD pathogenesis, such as apolipoprotein E (APOE), alpha2-macroglobulin (A2M), amyloid precursor protein (APP), and is located on chromosome 12, within a region linked with AD. An association between a silent polymorphism (C/T) in exon 3 and late onset AD has been reported, with an increased frequency of the C allele, although with conflicting results. We examined this polymorphism in a cohort of 166 sporadic AD patients and 225 sex- and age-matched nondemented controls from Southern Italy. No statistically significant differences were found in LRP1 genotype and allele frequencies between the whole AD sample and controls, nor in early- and late-onset subsets of AD patients. No statistically significant differences in frequencies between LRP1 alleles and AD among APOE allele, age, or gender strata were found. Finally, comparing our results with the findings from other European populations, the LRP1 C allele frequency showed a statistically significant decreasing trend from Northern to Southern regions of Europe, with a concomitant increase in LRP1 T allele frequency, but in AD patients only. Finally, in the AD sample, a decreasing geographical trend from North to South of Europe was found for LRP1 CC genotype, and an inverse trend for LRP1 CT genotype frequency. We suggest that these regional variations in LRP1 genotype and allele frequencies in AD could be related to the different patterns of association between this polymorphism and the disease in various European studies.

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supporting

confidence: 91%

mentioning

confidence: 79%

mentioning

confidence: 99%

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Regional European differences in allele and genotype frequencies of low density lipoprotein receptor‐related protein 1 polymorphism in Alzheimer's disease

D’Introno

Colacicco

Capurso

et al. 2003

American J of Med Genetics Pt B

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“…Wragg et al (1996) were the first to allude to an association of variations in the biallelic polymorphism of the presenilin 1 (PS1) gene with risk of AD. Subsequent research efforts on PS1 have yielded inconsistent results, with some studies Pritchard et al, 2005) showing an association between PS1 allele 1 and AD risk, while others (Hu et al, 2000;McIlroy et al, 2001;Bian et al, 2005) demonstrating the opposite. Kehoe et al (1999) were among the first to indicate an association between AD and the insertion/deletion (I/D) polymorphism in intron 16 of the angiotensin I-converting enzyme (ACE) gene.…”

Section: Introductionmentioning

confidence: 99%

Association of PS1 1/2, ACE I/D, and LRP C/T polymorphisms with Alzheimer’s disease in the Chinese population: a meta-analysis of case-control studies

Yang

Zhou

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The objective of this study was to assess the associations of presenilin 1 (PS1) 1/2, angiotensin I-converting enzyme (ACE) insertion/deletion (I/D), and low-density lipoprotein receptor-related protein (LRP) C/T polymorphisms with the risk of Alzheimer's disease (AD) in the Chinese population. PS1 1/2, ACE I/D, and LRP C/T, which are commonly investigated polymorphisms, were evaluated to obtain summary estimates regarding their associations with AD. In total, the data from 24 studies (2611 patients with AD and 2822 control subjects from 23 provinces and special districts in China) that were obtained from the Chinese Biomedicine Database, China National Knowledge Infrastructure, PubMed, and Medline were included. Different models (i.e., dominant, recessive, etc.) of these polymorphisms were analyzed using the Cochrane Review Manager. Statistically significant associations among patients with AD for the 1/1 genotype of the PS1 1/2 polymorphism [odds ratio (OR) = 1.77, 95% confidence interval (CI) = 1.03-3.04; P = 0.04] and the I/I genotype of the ACE I/D polymorphism (OR = 2.44, 95%CI = 1.78-3.35; P < 0.01) were identified. Statistically significant associations were also found for the PS1 1/2 polymorphism in both the dominant and recessive genetic models, whereas no association was found for the LRP C/T polymorphism. All studies exhibited heterogeneity (P < 0.05). This meta-analysis suggests that the 1/1 genotype of the PS1 1/2 polymorphism and the I/I genotype of the ACE I/D polymorphism are significantly associated with an increased risk of AD in the Chinese population.

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“…Lots of efforts have been invested in searching for potential biomarkers for AD [1] . Only APOE 4 has been consistently demonstrated to be associated with late-onset, sporadic AD in different ethnic populations [2,3] . The proteomics study based on mass spectrometry (MS) has become a powerful tool to search for disease biomarkers or specifi c protein expression patterns [4] .…”

Section: Introductionmentioning

confidence: 99%

Proteomic Identification of Lower Apolipoprotein A-I in Alzheimer’s Disease

Liu¹,

Chang

et al. 2006

Dement Geriatr Cogn Disord

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Many researches have been trying to find the potential biomarkers for Alzheimer’s disease (AD). We hereby used the proteomics method to search for protein expression differences in the serum between AD patients and controls. We enrolled 59 AD patients and 74 age- and sex-matched controls in this study. Ten AD patients and 10 controls were selected for proteomic analysis. Apolipoprotein A-I (ApoA-I) was found to have a lower expression in the AD group by a proteomics two-dimensional gel electrophoresis study. We further measured the serum ApoA-I level which was significantly lower in the AD patients (112.29 ± 21.33 mg/dl) in comparison to the controls (144.53 ± 19.91 mg/dl; p < 0.0002). Lower serum ApoA-I levels might be a potential biomarker for AD.

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Genetic risk factors of sporadic Alzheimer’s disease among Chinese in Taiwan

Cited by 29 publications

References 30 publications

Regional European differences in allele and genotype frequencies of low density lipoprotein receptor‐related protein 1 polymorphism in Alzheimer's disease

Regional European differences in allele and genotype frequencies of low density lipoprotein receptor‐related protein 1 polymorphism in Alzheimer's disease

Association of PS1 1/2, ACE I/D, and LRP C/T polymorphisms with Alzheimer’s disease in the Chinese population: a meta-analysis of case-control studies

Proteomic Identification of Lower Apolipoprotein A-I in Alzheimer’s Disease

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