rs2986017
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0.100 |
GeneticVariation |
BEFREE |
A recent study identified a polymorphism (Pro86Leu) in the Calcium homeostasis modulator 1 (CALHM1) gene whose minor Leucine allele showed a higher frequency in Alzheimer's disease (AD) patients compared to controls (29% in AD and 22% in controls).
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20164602 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Recently, the P86L alteration in CALHM1 (calcium homeostasis modulator-1) was reported to be associated with Alzheimer's disease (AD).
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20005921 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
A non-synonymous polymorphism, rs2986017 (p.P86L), in the newly characterized calcium homeostasis modulator 1 (CALHM1) gene located in the Alzheimer dementia (AD) linkage region on 10q24.33, was reported to increase risk of AD, and affect calcium homeostasis and amyloid beta accumulation.
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19191332 |
2009 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the ε4 allele of the APOE gene.
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20847397 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Our findings suggest that the CALHM1 P86L common variant may not influence AD risk in Japanese.
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19655363 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Our study suggests that CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population.
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24630757 |
2014 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Our study indicates that the CALHM1-P86L polymorphism is associated with AD in the ethnic Chinese Han.
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20061624 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
A genetic polymorphism (p. P86L) in CALHM1 reduces plasma membrane Ca(2+) permeability and is associated with an earlier age-at-onset of AD.
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24069280 |
2013 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Our data, however, revealed a significant association of CALHM1 P86L with elevated CSF Aβ42 and Aβ40 in the normal cohort at risk for AD.
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21629967 |
2012 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
In conclusion, our comprehensive meta-analysis indicated that P86L polymorphism is significantly associated with an increased risk for AD.
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26944452 |
2016 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Importantly, we found that adjusted mean age at AD onset in P86L homozygous LOAD patients was significantly earlier that in the rest of patients (77.01 +/- 6.1 for P86L homozygous carriers versus 79.0 +/- 6.0 for the rest of patients, p=0.002).
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20164592 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
These results suggest that in the presence of Aβ, P86L-CALHM1 shifts the balance between neurodegeneration and neuronal survival toward the stimulation of pro-cytotoxic pathways, thus potentially contributing to its deleterious effects in AD.
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26416646 |
2015 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Importantly, we determined that the CALHM1 P86L polymorphism (rs2986017) is significantly associated with AD in independent case-control studies of 3404 participants (allele-specific OR = 1.44, p = 2 x 10(-10)).
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18585350 |
2008 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
We tested the hypothesis that the T-allelic variant of the CALHM1 rs2986017 polymorphism confers susceptibility to Alzheimer's disease in a Hungarian case-control sample that was also genotyped for apolipoprotein E. This study included 238 probable patients with Alzheimer's disease who met the diagnostic criteria for National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association and 202 elderly healthy control participants.
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21378601 |
2011 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
The current meta-analysis suggested that CALHM1 rs2986017 might be associated with increased AD risk in Caucasian, but not Asian population.
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26700797 |
2016 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
Its mutated channel P86L-CALHM1 has been associated to Alzheimer's disease (AD).
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19944073 |
2010 |
rs2986017
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0.100 |
GeneticVariation |
BEFREE |
A common polymorphism (rs2986017) in the CALHM1 gene, coding for a regulator of calcium homeostasis, is a genetic risk factor for the development of Alzheimer disease (AD).
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22874670 |
2013 |