rs10849860 (P2RX4): Immune Cell Gene Expression

Key takeaways

• A single variant at rs10849860 has opposing effects: it reduces P2RX4 gene activity in immune cells while raising P2RX7 gene activity in blood.
• These findings come from GTEx eQTL data across 953 donors, a large population cohort.
• This variant has a stronger effect on P2RX4 in immune cells (p=4.9e-9) than on P2RX7 in blood (p=7.7e-5).
• No direct disease or clinical associations are reported in the studies provided - these are gene expression findings only.

What the research says GTEx v11 eQTL analysis spanning 953 donors shows that the alternate allele at rs10849860 is associated with reduced expression of P2RX4 in EBV-transformed lymphocytes (an immune cell line derived from white blood cells and widely used in genetic research), with an effect size of -0.31 on log2-normalized expression and p=4.9e-9 GTEx Portal. The same allele is linked to increased expression of the related gene P2RX7 in whole blood, with a smaller and less statistically strong effect (slope +0.11, p=7.7e-5) GTEx Portal. These are expression-level findings only; no direct disease or clinical trait associations for this variant are reported in the studies provided.

Reported associations

• P2RX4 expression in EBV-transformed lymphocytes: The alternate allele is associated with reduced gene expression (effect size -0.31, p=4.9e-9) GTEx Portal.
• P2RX7 expression in whole blood: The alternate allele is associated with increased gene expression (effect size +0.11, p=7.7e-5) GTEx Portal.

Evidence quality The available evidence for rs10849860 consists of tissue-specific gene expression data from GTEx v11 (953 donors). The analysis used a cis-window approach, meaning it tested variants located physically near each gene rather than scanning the full genome, and applied a false discovery rate (FDR) threshold of less than 0.05 to limit the number of chance findings. The effect on P2RX4 expression in EBV-transformed lymphocytes is statistically robust at p=4.9e-9, well below conventional genome-wide significance thresholds GTEx Portal. The P2RX7 effect in whole blood is smaller in magnitude and less strong at p=7.7e-5, though it passes the FDR threshold applied in this dataset GTEx Portal. No phenotypic or clinical trait associations for this specific variant are reported in the studies provided, and the overall body of evidence should be considered preliminary.

Tissue-specific expression effects

• P2RX4: The alternate allele is associated with reduced expression in EBV-transformed lymphocytes GTEx Portal.
• P2RX7: The alternate allele is associated with increased expression in whole blood GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.