PRKCE, variants, traits, and what the research shows

PRKCE - what this gene does

Variants in PRKCE appear across multiple trait categories in genome-wide association studies (GWAS - studies that scan large numbers of people's genomes for variants statistically linked to a trait), with signals touching cancer, liver conditions, respiratory traits, blood coagulation (the process by which blood forms clots), and rare disease. Without published data on the gene's biological mechanism in the research summaries on file, the clearest picture comes from the trait themes the variants themselves point to.

Key takeaways

• The highest-signal variant in this gene is associated with a rare disease category and carries the strongest statistical weight among the variants on file.
• Multiple variants carry cancer-related trait labels in research studies.
• Variants also appear in studies covering liver conditions, respiratory traits, and blood clotting.
• One cancer-tagged variant on file was found, in the one published study available for it, to have no genome-wide significant association at this gene's locus.
• All of these are population-level statistical associations, not deterministic predictors of any individual's health.

Notable variants

rs1553363925 carries the highest magnitude score on file (5.50) and is tagged with a rare disease trait category. At the next tier of magnitude (4.50), rs6759058 and rs75794846 are both linked to cancer traits, while rs4413200 and rs4953249 share a liver trait association, making liver the only theme with two confirmed-label variants at that tier. rs72879760 is associated with coagulation traits, and rs12622534 appears in respiratory trait research. One variant, rs115257641, is listed under cancer in this gene's dataset, but the published research on file for it concerns a childhood glioma (a type of pediatric brain tumor) study that identified a different chromosomal region (9p21.3, near the CDKN2B-AS1 locus) as the relevant signal; rs115257641 itself showed no genome-wide significant result in that study.

Trait associations

Cancer is the most represented theme, with rs6759058 and rs75794846 carrying cancer-category tags supported by their magnitude scores. rs115257641 is also tagged under cancer but, as noted, the published summary for it found no direct association at this gene's locus. Liver conditions appear across two variants, rs4413200 and rs4953249. rs72879760 is linked to coagulation traits; rs12622534 is linked to respiratory traits; and rs1553363925 sits at the top of the magnitude ranking under rare disease. Several additional variants, including rs11679987, rs11684301, rs534288, and rs7591351, carry a magnitude of 4.50 with no trait label attached in the current dataset.

Evidence quality

The strongest signal on file is rs1553363925 at magnitude 5.50 under rare disease, though no effect size, odds ratio, or sample-size details are available in the current dataset for this variant. The cluster of magnitude-4.50 variants spans cancer, liver, respiratory, and coagulation categories, but quantitative evidence such as odds ratios, beta coefficients, and replication cohort counts is not provided in the source data. A notable caveat applies to rs115257641: the one study on record for that variant focused on childhood glioma risk and attributed the genome-wide significant signal to a separate chromosomal region, not to rs115257641 or this gene's locus. Without replication data or effect sizes for most variants, confidence in any individual signal is limited, and these findings should be treated as preliminary research pointers rather than established associations.

What this is NOT

These variants represent population-level statistical signals from genome-wide research, not deterministic predictors of disease or health outcomes for any individual. Nothing in this entry constitutes medical advice, a diagnosis, or a recommendation of any kind.