Expressive

rs116953792 - FRA10AC1

Magnitude 2.8 · 2 studies on file

Reported associations

  • Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level - Unknown journal (n.d.) · Unknown authors · PubMed 26252872

    ABSTRACT: Proteolytic fragments of amyloid and post-translational modification of tau species in Cerebrospinal fluid (CSF) as well as cerebral amyloid deposition are important biomarkers for Alzheimer's Disease. We conducted genome-wide association study to identify genetic factors influencing CSF biomarker level, cerebral amyloid deposition, and disease progression. The genome-wide association study was performed via a meta-analysis of two non-overlapping discovery sample sets to identify genetic variants other than APOE ε4 predictive of the CSF biomarker level (Aβ1-42, t-Tau, p-Tau181P, t-Tau:Aβ1-42 ratio, and p-Tau181P:Aβ1-42 ratio) in patients enrolled in the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. Loci passing a genome-wide significance threshold of P <

  • Genome-Wide Association Study of Alzheimer Disease Endophenotypes at Prediagnosis Stages - Unknown journal (n.d.) · Unknown authors · PubMed 29274321

    ABSTRACT: INTRODUCTION Genetic associations for endophenotypes of Alzheimer's disease (AD) in cognitive stages preceding Alzheimer disease have not been thoroughly evaluated. METHODS We conducted GWAS for AD-related endophenotypes including hippocampal volume (HPV), logical memory scores (LMT), and cerebrospinal fluid (CSF) amyloid β42 and total/phosphorylated tau (t-/p-Tau) in cognitively normal (CN), mild cognitive impairment (MCI), and AD dementia subjects from the Alzheimer's Disease Neuroimaging Initiative study. RESULTS In CN subjects, study-wide significant (SWS; P<8.3×10−9) loci were identified for t-Tau near SRRM4 and C14orf79 and for HPV near MTUS1. In MCI subjects, SWS association was found with SNPs near ZNF804B for LMT-delayed recall. We found consistent expression pat

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