The impact of GAB2 genetic variations on cerebrospinal fluid markers in Alzheimer's disease.
Ontology highlight
ABSTRACT: Background
Growth factor receptor-bound protein-associated binding protein 2 gene (GAB2) has been regarded as one of the susceptibility gene associated with Alzheimer's disease (AD). However, the role of GAB2 polymorphisms on cerebrospinal fluid (CSF) proteins in AD continuum remains unclear.Methods
We evaluated the connection between four single nucleotide polymorphisms (SNPs) of GAB2 and AD-related CSF biomarkers including amyloid β (Aβ), total tau (T-tau) and phosphorylated tau (P-tau) level in 627 Alzheimer's Disease Neuroimaging Initiative (ADNI) subjects.Results
rs1385600 and rs1007837 were significantly associated with all the three biomarkers in CSF (rs1385600: Aβ Pc =0.0112, T-tau Pc =0.0356, P-tau Pc =0.0116; rs1007837: Aβ Pc =0.0058, T-tau Pc =0.0278, P-tau Pc =0.0231). rs2373115 only showed significant association with Aβ and P-tau (Aβ, Pc=0.0398, P-tau, Pc=0.0329). rs10793294 showed no significant association with all the three biomarkers.Conclusions
Our study suggested that GAB2 variants were significantly associated with the level of the three CSF biomarkers, which further supported that GAB2 genetic variation modulates AD risk via the alteration of both Aβ and tau pathology.
SUBMITTER: Chen XX
PROVIDER: S-EPMC5994512 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Publications
The impact of <i>GAB2</i> genetic variations on cerebrospinal fluid markers in Alzheimer's disease.
Chen Xiao-Xiao XX Guo Run-Rong RR Cao Xi-Peng XP Tan Lin L Tan Lan L
Annals of translational medicine 20180501 10
<h4>Background</h4>Growth factor receptor-bound protein-associated binding protein 2 gene (<i>GAB2</i>) has been regarded as one of the susceptibility gene associated with Alzheimer's disease (AD). However, the role of <i>GAB2</i> polymorphisms on cerebrospinal fluid (CSF) proteins in AD continuum remains unclear.<h4>Methods</h4>We evaluated the connection between four single nucleotide polymorphisms (SNPs) of <i>GAB2</i> and AD-related CSF biomarkers including amyloid β (Aβ), total tau (T-tau) ...[more]
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