scholarly journals High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

10.3791/56012 ◽  
2017 ◽  
Author(s):  
Aymric Kisserli ◽  
Thierry Tabary ◽  
Jacques Henri Max Cohen ◽  
Valérie Duret ◽  
Rachid Mahmoudi
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
High Resolution ◽  
Length Polymorphism ◽  
High Resolution Melting ◽  
Disease Gene ◽  
Complement Receptor ◽  
Susceptibility Assessment ◽  
Innovative Tool ◽  
Complement Receptor 1

Alzheimer's disease risk factor complement receptor 1 is associated with depression

2012 ◽  
Vol 510 (1) ◽  
pp. 6-9 ◽  
Author(s):  
Gillian Hamilton ◽  
Kathryn L. Evans ◽  
Donald J. MacIntyre ◽  
Ian J. Deary ◽  
Anna Dominiczak ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Factor ◽  
Disease Risk ◽  
Complement Receptor ◽  
Disease Risk Factor ◽  
Complement Receptor 1

Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes

2013 ◽  
Vol 34 (9) ◽  
pp. 2235.e1-2235.e6 ◽  
Author(s):  
Caroline Van Cauwenberghe ◽  
Karolien Bettens ◽  
Sebastiaan Engelborghs ◽  
Mathieu Vandenbulcke ◽  
Jasper Van Dongen ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Complement Receptor ◽  
Complement Receptor 1

scholarly journals Peripheral complement interactions with amyloid β peptide in Alzheimer's disease: Polymorphisms, structure, and function of complement receptor 1

2018 ◽  
Vol 14 (11) ◽  
pp. 1438-1449 ◽  
Author(s):  
Jenny U. Johansson ◽  
William D. Brubaker ◽  
Harold Javitz ◽  
Andrew W. Bergen ◽  
Denise Nishita ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Amyloid Β ◽  
Structure And Function ◽  
Complement Receptor ◽  
Amyloid Β Peptide ◽  
Complement Receptor 1 ◽  
And Function

scholarly journals Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease

2018 ◽  
Vol 137 (4) ◽  
pp. 305-314 ◽  
Author(s):  
Ezgi Kucukkilic ◽  
◽  
Keeley Brookes ◽  
Imelda Barber ◽  
Tamar Guetta-Baranes ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Complement Receptor ◽  
Complement Receptor 1 ◽  
Intragenic Duplication

Complement receptor 1 (CR1) and Alzheimer's disease

Immunobiology ◽  
2012 ◽  
Vol 217 (2) ◽  
pp. 244-250 ◽  
Author(s):  
Helen Crehan ◽  
Patrick Holton ◽  
Selina Wray ◽  
Jennifer Pocock ◽  
Rita Guerreiro ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Complement Receptor ◽  
Complement Receptor 1

scholarly journals Inherited and Acquired Decrease in Complement Receptor 1 (CR1) Density on Red Blood Cells Associated with High Levels of Soluble CR1 in Alzheimer’s Disease

2018 ◽  
Vol 19 (8) ◽  
pp. 2175 ◽  
Author(s):  
Rachid Mahmoudi ◽  
Sarah Feldman ◽  
Aymric Kisserli ◽  
Valérie Duret ◽  
Thierry Tabary ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Complement Receptor ◽  
Low Density ◽  
Amyloid Deposits ◽  
Length Polymorphisms ◽  
Phenotype Data ◽  
Data Density ◽  
Hindiii Polymorphism ◽  
Complement Receptor 1

The complement receptor 1 (CR1) gene was shown to be involved in Alzheimer’s disease (AD). We previously showed that AD is associated with low density of the long CR1 isoform, CR1*2 (S). Here, we correlated phenotype data (CR1 density per erythrocyte (CR1/E), blood soluble CR1 (sCR1)) with genetic data (density/length polymorphisms) in AD patients and healthy controls. CR1/E was enumerated using flow cytometry, while sCR1 was quantified by ELISA. CR1 polymorphisms were assessed using restriction fragment length polymorphism (RFLP), pyrosequencing, and high-resolution melting PCR. In AD patients carrying the H allele (HindIII polymorphism) or the Q allele (Q981H polymorphism), CR1/E was significantly lower when compared with controls carrying the same alleles (p < 0.01), contrary to sCR1, which was significantly higher (p < 0.001). Using multivariate analysis, a reduction of 6.68 units in density was associated with an increase of 1% in methylation of CR1 (estimate −6.68; 95% confidence intervals (CIs) −12.37, −0.99; p = 0.02). Our data show that, in addition to inherited genetic factors, low density of CR1/E is also acquired. The involvement of CR1 in the pathogenesis of AD might be linked to insufficient clearance of amyloid deposits. These findings may open perspectives for new therapeutic strategies in AD.

Complement receptor 1 polymorphisms and risk of late-onset Alzheimer's disease

2010 ◽  
Vol 1348 ◽  
pp. 216-221 ◽  
Author(s):  
Qun Zhang ◽  
Jin-Tai Yu ◽  
Qi-Xiu Zhu ◽  
Wei Zhang ◽  
Zhong-Chen Wu ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Complement Receptor ◽  
Complement Receptor 1

Genetic association of complement receptor 1 polymorphism rs3818361 in Alzheimer's disease

2011 ◽  
Vol 7 (4) ◽  
pp. e124-e129 ◽  
Author(s):  
Carmen Antúnez ◽  
Mercè Boada ◽  
Jesús LÓpez-Arrieta ◽  
Concha Moreno-Rey ◽  
Isabel Hernández ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Association ◽  
Complement Receptor ◽  
Complement Receptor 1

scholarly journals Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease

2018 ◽  
Author(s):  
Ezgi Kucukkilic ◽  
Keeley Brookes ◽  
Imelda Barber ◽  
Tamar Guetta-Baranes ◽  
Kevin Morgan ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Complement Receptor ◽  
Ratio Test ◽  
Risk Haplotype ◽  
Single Nucleotide Variants ◽  
Specific Pcr ◽  
Increased Risk ◽  
Complement Receptor 1

AbstractSingle nucleotide variants (SNVs) within and surrounding the complement receptor 1 (CR1) gene show some of the strongest genome-wide association signals with late-onset Alzheimer’s disease. Some studies have suggested that this association signal is due to a duplication allele (CR1-B) of a low copy repeat (LCR) within the CR1 gene, which increases the number of complement C3b/C4b-binding sites in the mature receptor. In this study, we develop a triplex paralogue ratio test (PRT) assay for CR1 LCR copy number allowing large numbers of samples to be typed with a limited amount of DNA. We also develop a CR1-B allele-specific PCR based on the junction generated by an historical non-allelic homologous recombination event between CR1 LCRs. We use these methods to genotype CR1 and measure CR1-B allele frequency in both late-onset and early-onset cases and unaffected controls from the United Kingdom. Our data support an association of late-onset Alzheimer’s disease with the CR1-B allele, and confirm that this allele occurs most frequently on the risk haplotype defined by SNV alleles. Furthermore, regression models incorporating CR1-B genotype provide a bitter fit to our data compared to incorporating the SNP-defined risk haplotype, supporting the CR1-B allele as the variant underlying the increased risk of late-onset Alzheimer’s disease.

scholarly journals Association of complement receptor 1 gene polymorphisms with cognitive function

2018 ◽  
Vol 50 (2) ◽  
pp. 102-103
Author(s):  
L. E. Zijlstra ◽  
J. W. Jukema ◽  
S. P. Mooijaart ◽  
M. A. de Vries ◽  
D. J. Stott ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Cognitive Function ◽  
Gene Polymorphisms ◽  
The Elderly ◽  
Genomic Region ◽  
Chromosome 1 ◽  
Complement Receptor ◽  
Nucleotide Polymorphisms ◽  
Complement Receptor 1

Previous evidence suggest involvement of the complement receptor 1 (CR1) in development of Alzheimer’s disease. We investigated the association of CR1 gene polymorphisms with cognitive function in older subjects. Single nucleotide polymorphisms (SNPs) within the CR1 region on chromosome 1 ( n = 73) were assessed in 5,244 participants in the PROspective Study of Pravastatin in the Elderly at Risk (51.9% female, mean age 75.3 yr). Linear regression, adjusted for age, sex, country, and use of pravastatin, was used to assess the association between the SNPs and cognitive function. All 73 SNPs within the genomic region of the CR1 gene on chromosome 1 were extracted. Eighteen were independent, according to a relatively stringent R2 threshold of >0.8 with LDlink. Twelve of the 18 investigated CR1 SNPs were significantly associated with a decline in cognitive function (all P < 0.05). These data indicate that genetic variation within the CR1 gene is associated not only with Alzheimer’s disease, but also with general cognitive function during late life.

Sign in / Sign up

Export Citation Format

Share Document