rs116932763 (ZNF862): Alzheimer's & Muscle eQTL

Q: What is the ZNF862 gene?

ZNF862 encodes zinc finger protein 862, a member of the zinc finger protein family. Zinc finger proteins are a broad class of DNA-binding proteins that help regulate when and how other genes are expressed. The specific biological role of ZNF862 is not detailed in the currently available evidence for this variant.

Q: Is rs116932763 linked to Alzheimer's disease?

This variant was included in a large family-based Alzheimer's disease genome-wide association study, but no genome-wide significant association at this specific locus was reported in the available evidence. It cannot currently be classified as an established Alzheimer's risk variant.

Q: What does the GTEx data show for rs116932763?

GTEx v11 expression data from 953 donors shows that carrying the alternate allele at rs116932763 is associated with higher expression of a nearby gene (ENSG00000284691) in skeletal muscle, meeting the FDR<0.05 threshold. This is an eQTL result describing gene regulation, not a direct disease finding.

Q: How strong is the evidence for rs116932763?

Evidence is preliminary. The variant falls within a large Alzheimer's family GWAS dataset but was not among its reported significant findings. The skeletal muscle expression result from GTEx is statistically controlled but has not been independently replicated or linked to a clinical outcome in the available evidence.

Q: Which tissues does rs116932763 affect gene expression in?

Based on the available GTEx v11 data, an eQTL effect has been detected only in skeletal muscle, where the alternate allele is associated with increased expression of ENSG00000284691.

rs116932763 (ZNF862): Alzheimer's & Muscle eQTL

Key takeaways

rs116932763 sits within the ZNF862 locus, analyzed in a family-based Alzheimer's disease GWAS covering nearly 15 million variants across ~3,500 participants
GTEx data shows the alternate allele is linked to increased expression of a nearby gene in skeletal muscle (slope +0.39, p=1.4×10^-5, FDR<0.05)
No genome-wide significant Alzheimer's disease signal was reported at this locus in the available evidence
The evidence base for this variant is preliminary, limited to a single tissue-expression dataset and one GWAS study context

Key takeaways

rs116932763 sits within the ZNF862 (zinc finger protein 862) locus, which was analyzed in a family-based Alzheimer's disease genome-wide association study (GWAS) covering nearly 15 million variants across ~3,500 participants
GTEx tissue-expression data shows the alternate allele is associated with increased expression of a nearby gene (ENSG00000284691) in skeletal muscle (slope +0.39, p=1.4×10^-5, FDR<0.05)
No genome-wide significant Alzheimer's disease signal was reported at this locus in the available evidence
The overall body of evidence for this variant is preliminary, limited to a single tissue-expression dataset and one GWAS study context

What the research says A family-based genome-wide association meta-analysis of Alzheimer's disease (AD) - enrolling approximately 3,500 subjects from 1,070 families and testing close to 15 million imputed variants across three national family collections (NIMH, NIA-LOAD, and NCRAD) - provides the primary genetic-study context for this locus; the analysis combined AD affection status and age of onset as a joint phenotype to maximize statistical power, with genome-wide significant hits mapping to PTPRG, OSBPL6, and PDCL3, and no specific finding reported at this position. Separately, expression quantitative trait locus (eQTL) data - analyses that test whether a DNA variant predicts how actively a nearby gene is expressed - from GTEx v11 (953 donors) shows the alternate allele is associated with increased expression of ENSG00000284691 specifically in skeletal muscle tissue GTEx Portal.

Reported associations

Alzheimer's disease (GWAS dataset): Analyzed within a family-based AD meta-analysis of ~3,500 subjects from 1,070 families covering close to 15 million imputed variants; the study's genome-wide significant loci were PTPRG (p=3.98×10^-8), OSBPL6 (p=4.53×10^-8), and PDCL3 (p=4.28×10^-8), with no significant finding at this specific position reported in the available evidence
Skeletal muscle gene expression: The alternate allele is associated with increased expression of ENSG00000284691 in skeletal muscle (slope +0.39, p=1.4×10^-5, FDR<0.05, GTEx v11, n=953 donors) GTEx Portal

Evidence quality The family-based AD GWAS is a methodologically rigorous design - pooling ~3,500 subjects from 1,070 multi-generational families across three national collections, testing close to 15 million imputed variants, and applying a multivariate phenotype combining affection status with onset age - but no genome-wide significant or marginally significant result at rs116932763 or this locus is reported in the available evidence, so any AD connection remains uncharacterized. The GTEx eQTL result (p=1.4×10^-5, FDR<0.05, n=953 donors) meets the statistical threshold used in GTEx v11 and indicates a regulatory relationship between this variant and skeletal muscle gene expression; however, eQTL findings describe molecular mechanisms rather than clinical outcomes, and independent replication is not documented in the provided evidence GTEx Portal.

Tissue-specific expression effects

ENSG00000284691: The alternate allele is associated with increased expression in skeletal muscle; no eQTL effect was reported in other tissues in the provided GTEx data GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

Discuss early-onset Alzheimer's risk with physician Moderate

Genetic variant associated with earlier onset of Alzheimer's disease warrants informed discussion with healthcare provider
- PMID 26830138

Screening

Baseline cognitive assessment for future comparison Moderate

Earlier Alzheimer's disease onset risk warrants establishing baseline cognitive function for monitoring disease progression

Discuss timing and frequency of baseline and repeat assessments with physician
- PMID 26830138

Frequently asked questions

What is the ZNF862 gene?

ZNF862 encodes zinc finger protein 862, a member of the zinc finger protein family. Zinc finger proteins are a broad class of DNA-binding proteins that help regulate when and how other genes are expressed. The specific biological role of ZNF862 is not detailed in the currently available evidence for this variant.

Is rs116932763 linked to Alzheimer's disease?

This variant was included in a large family-based Alzheimer's disease genome-wide association study, but no genome-wide significant association at this specific locus was reported in the available evidence. It cannot currently be classified as an established Alzheimer's risk variant.

What does the GTEx data show for rs116932763?

GTEx v11 expression data from 953 donors shows that carrying the alternate allele at rs116932763 is associated with higher expression of a nearby gene (ENSG00000284691) in skeletal muscle, meeting the FDR<0.05 threshold. This is an eQTL result describing gene regulation, not a direct disease finding.

How strong is the evidence for rs116932763?

Evidence is preliminary. The variant falls within a large Alzheimer's family GWAS dataset but was not among its reported significant findings. The skeletal muscle expression result from GTEx is statistically controlled but has not been independently replicated or linked to a clinical outcome in the available evidence.

Which tissues does rs116932763 affect gene expression in?

Based on the available GTEx v11 data, an eQTL effect has been detected only in skeletal muscle, where the alternate allele is associated with increased expression of ENSG00000284691.

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