Expressive

rs116846160 (GRM8): Alzheimer's Brain Biomarker GWAS

Key takeaways

  • rs116846160 is near POT1-AS1 and GRM8, identified in a GWAS of Alzheimer's brain imaging and cognitive traits.
  • The study used quantitative MRI and memory test scores from 931 participants rather than a simple case-control design.
  • This is a preliminary, single-study finding with no independent replication reported in available evidence.
  • Specific effect sizes for this variant are not available in the current evidence base.

Key takeaways

  • rs116846160, near the POT1-AS1 and GRM8 genes, was identified in a genome-wide association study of Alzheimer's disease-related brain and cognitive phenotypes.
  • The study used quantitative endophenotypes (MRI measurements and neuropsychological test scores) rather than a simple case-control design, which can improve statistical sensitivity for detecting genetic signals.
  • Evidence for this variant comes from a single exploratory study of 931 participants; no independent replication data are described in available study materials.
  • Specific effect sizes and the precise trait linked to this locus are not detailed in the available study excerpt.

What the research says A genome-wide association study (GWAS, a method that scans hundreds of thousands of genetic variants across the genome simultaneously) used data from 931 individuals enrolled in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) cohort to perform 19 separate analyses across five brain MRI traits and seven neuropsychological performance measures, assessed both cross-sectionally and longitudinally. The study aimed to nominate new genetic loci relevant to cognitive decline by using quantitative endophenotypes (measurable biological or behavioral traits that connect genes to disease outcomes) rather than binary diagnostic labels, a design the authors characterize as potentially more statistically powerful than standard case-control approaches. The specific results for this locus are not reproduced in the available study excerpt, so precise effect sizes and the associated phenotype cannot be described here.

Reported associations

  • Alzheimer's disease-related brain and cognitive phenotypes: This variant was identified in a GWAS examining AD biomarker and neuropsychological phenotypes in 931 EMIF-AD MBD participants; specific trait-level association data and effect sizes are not available in the provided study excerpt.

Evidence quality The available evidence for rs116846160 derives from a single exploratory GWAS conducted in 931 participants from the EMIF-AD MBD cohort. The study's use of longitudinal quantitative endophenotypes is a methodological strength relative to cross-sectional case-control approaches, and the cohort's comprehensive genome coverage, including the X chromosome which is often excluded in other GWAS, reflects a rigorous design. However, the modest sample size and the absence of independently replicated findings for this specific locus in the provided materials substantially limit confidence. No functional annotations, pharmacogenomic data, or polygenic score results specific to this variant are described in the available text.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs116846160?

rs116846160 is a genetic variant located near two genes, POT1-AS1 and GRM8. It was identified in a genome-wide association study that examined Alzheimer's disease-related brain imaging and cognitive traits in 931 participants.

What genes are near rs116846160?

rs116846160 is located near POT1-AS1 and GRM8. These genes sit in the same chromosomal region and are of interest in the context of the Alzheimer's disease-related GWAS that identified this variant.

Is rs116846160 linked to Alzheimer's disease?

rs116846160 was identified in a study focused on Alzheimer's disease-related brain imaging and cognitive phenotypes in 931 participants. The finding is preliminary and has not been independently replicated based on available study materials.

How strong is the evidence for this variant?

Evidence comes from a single exploratory GWAS of 931 individuals. Independent replication in larger cohorts has not been reported in available study materials, so the association should be considered preliminary.

What Alzheimer's traits does this variant relate to?

The study that identified this variant examined both brain MRI measurements and neuropsychological test scores, including longitudinal cognitive performance assessments. Specific trait-level data for rs116846160 are not fully detailed in available study materials.