rs117091894 (BRD10): Alzheimer's Brain Marker GWAS

Key takeaways

• rs117091894, located near BRD10, was examined in a genome-wide association study (GWAS) of Alzheimer's disease-related biological and cognitive markers at pre-diagnosis stages
• The study analyzed six markers: hippocampal volume (size of a brain region central to memory), immediate and delayed verbal memory scores, and cerebrospinal fluid levels of amyloid-beta 42, total tau, and phosphorylated tau
• Participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI) were divided by cognitive stage (cognitively normal, mild cognitive impairment, and Alzheimer's dementia) to identify variants active before dementia onset
• Specific effect sizes and significance values for this variant are not reported in the available study text

What the research says A genome-wide association study (GWAS) of Alzheimer's disease (AD) endophenotypes (measurable biological traits linked to disease risk before full dementia onset) examined genetic variants in participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI), which enrolled individuals across three cognitive stages: cognitively normal (CN), mild cognitive impairment (MCI), and AD dementia. The study tested associations with six markers: hippocampal volume measured by MRI, immediate and delayed logical memory recall scores, and cerebrospinal fluid (CSF) concentrations of amyloid-beta 42, total tau (t-Tau), and phosphorylated tau (p-Tau). rs117091894 near BRD10 was examined in this context, though the available excerpt does not describe specific results for this locus; the abstract highlights study-wide significant findings at P less than 8.3x10^-9 near SRRM4 and C14orf79 (for t-Tau in CN subjects), near MTUS1 (for hippocampal volume in CN subjects), and near ZNF804B (for delayed memory recall in MCI subjects).

Reported associations

• Alzheimer's disease endophenotypes (study context): This locus was included in a GWAS of hippocampal volume, verbal memory scores, and CSF protein levels in ADNI participants; the available study text does not provide specific association statistics for this variant and does not list it among the top study-wide significant findings

Evidence quality The ADNI cohort included up to 1,189 participants before quality control, divided across three cognitive stages. After quality control, ADNI-1 contained 187 CN, 329 MCI, and 163 AD dementia subjects; ADNI-GO/2 contained 118 CN, 252 MCI, and 27 AD dementia subjects. Sample sizes for CSF biomarker analyses were considerably smaller than for brain imaging and cognitive tests, a limitation the authors noted. The study-wide significance threshold was set at P less than 8.3x10^-9 across all six phenotypes to control for multiple testing. Because the available source text does not describe specific findings for this variant, including no effect size, p-value, or direction of association, the evidence quality for this locus cannot be assessed from the provided excerpt. No replication data for this variant are mentioned in the available text. Evidence for this variant is preliminary at best given the absence of reported results in the available source.

Lifestyle considerations No lifestyle considerations on file for this variant.