Expressive

rs10273775 (CNTNAP2): Testis eQTL Variant

Key takeaways

  • The alternate allele at rs10273775 is linked to increased expression of a nearby gene in testis tissue, based on GTEx data from 953 donors.
  • No disease or health trait associations for this variant are reported in the provided research sources.
  • A genome-wide Alzheimer disease study in African Americans found novel candidate signals but did not specifically name this variant.
  • Evidence is limited to a tissue-level gene expression signal; clinical significance is not established.

Key takeaways

  • The alternate allele at rs10273775 is linked to increased expression of a nearby gene (ENSG00000304382) specifically in testis tissue, based on GTEx data from 953 donors.
  • No disease associations for this specific variant are reported in the provided research sources.
  • A genome-wide Alzheimer disease study in African Americans found suggestive evidence for novel candidate genes but did not name CNTNAP2 or this variant in the available text.
  • All available evidence is preliminary; no confirmed clinical associations are established for this locus.

What the research says GTEx v11 data (953 donors, cis-window, FDR<0.05) show that the alternate allele at rs10273775 is associated with increased expression of ENSG00000304382 in testis tissue (slope +0.30, p=2.2×10^-5) GTEx Portal. A genome-wide association study analyzing approximately 2.5 million imputed markers in 513 African American late-onset Alzheimer disease (AD) cases and 496 cognitively normal controls identified associations with several established genes and reported suggestive evidence for novel candidate loci, but the available study text does not name rs10273775 or CNTNAP2 among the findings. No phenotypic associations specific to this variant are established from the provided sources.

Reported associations

  • Gene expression (testis): The alternate allele is associated with increased expression of ENSG00000304382 in testis tissue (slope +0.30, p=2.2×10^-5) GTEx Portal.

Evidence quality The only variant-specific evidence for rs10273775 comes from GTEx v11 (953 donors, cis-window, FDR<0.05), which identifies a testis-tissue expression signal at p=2.2×10^-5 - a threshold that meets FDR criteria but falls well short of typical genome-wide significance. The accompanying genetic study (Logue et al., 2012, Archives of Neurology) analyzed 2.5 million imputed SNPs across 513 African American AD cases and 496 controls, reporting genome-wide significant findings near APOE and suggestive signals for novel candidate genes; neither rs10273775 nor CNTNAP2 are named in the available text, so no specific disease association can be established from this source. The overall evidence base for this variant is sparse.

Tissue-specific expression effects

  • ENSG00000304382: Increased expression in testis tissue GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10273775?

rs10273775 is a single-nucleotide variant located in the CNTNAP2 gene. GTEx data from 953 donors show the alternate allele is associated with increased expression of a nearby gene in testis tissue, but no disease associations for this variant are confirmed in the available research.

Is rs10273775 linked to Alzheimer disease?

A genome-wide association study of late-onset Alzheimer disease in African Americans (513 cases, 496 controls) found suggestive associations with several novel candidate genes, but the available study text does not specifically name rs10273775 or CNTNAP2. A confirmed link cannot be established from the provided sources.

What is an eQTL and why does it matter for rs10273775?

An eQTL (expression quantitative trait locus) is a DNA variant associated with differences in how much a nearby gene is expressed in a given tissue. For rs10273775, GTEx data show the alternate allele is linked to increased gene expression in testis tissue, though this does not by itself indicate any health outcome.

How strong is the evidence for rs10273775?

The evidence is limited. The only variant-specific data come from a tissue expression dataset (GTEx v11, 953 donors). No genome-wide significant disease associations are reported for this variant in the provided research sources.