rs10505496 (PCAT1): Current Research Evidence

Key takeaways

• The only available study for rs10505496 enrolled just 2,246 adults and found no genome-wide significant hit for this specific variant.
• The research examined cognitive traits including memory, language, executive function, and visuospatial ability in a rural South African population.
• A different variant (rs73485231) was the primary finding in the only available study - rs10505496 was not independently significant.
• Evidence for this variant is preliminary and has not been replicated in larger cohorts.
• No lifestyle factors have been linked to rs10505496 in the available study evidence.

What the research says One genome-wide association study of cognitive performance enrolled 2,246 adults from a rural South African community and tested approximately 14 million imputed genetic markers across five traits: total cognition score, verbal episodic memory, executive function, language, and visuospatial ability. The study's primary genome-wide significant finding was rs73485231 for episodic memory, while a window-based replication approach was used to assess previously reported variants across cognitive domains. rs10505496 was not reported as a genome-wide significant hit in the provided evidence; the source study carries no PMID in the available metadata, so no inline citation is included.

Reported associations

• Cognitive performance (South African cohort): The only available study investigated associations with five cognitive traits in 2,246 rural South African adults using data from the H3Africa genotyping array; no genome-wide significant association for rs10505496 was identified, and no effect size for this specific variant was reported.

Evidence quality The sole available study enrolled 2,246 participants, a sample size substantially smaller than the 50,000-plus participants typical of well-powered genome-wide studies for polygenic traits such as cognitive function. The study used imputed data derived from the H3Africa genotyping array (approximately 14 million markers) and applied a conventional genome-wide significance threshold of p < 5 x 10-8. No association for rs10505496 reached that threshold in the provided evidence. The evidence base for this variant is therefore preliminary, limited to a single under-powered study in one population, and lacks independent replication - meaning no firm conclusions about this variant's function or associations can be drawn from available sources.

Lifestyle considerations No lifestyle considerations on file for this variant.