PCSK6, variants, traits, and what the research shows

PCSK6 - what this gene does

PCSK6 (proprotein convertase subtilisin/kexin type 6) is a human gene whose 75 catalogued variants touch trait areas including cancer, respiratory health, metabolic traits, vision, and kidney function. The sections below draw on those variant associations to map what the current research landscape suggests.

Key takeaways

• Variants in this gene have been linked to at least six trait categories: cancer, respiratory, metabolic, vision, kidney, and blood coagulation.
• The highest-magnitude signals include variants tied to cancer and respiratory traits.
• Metabolic associations appear across multiple variants, adding modest cross-variant support to that theme.
• All findings represent population-level statistical associations, not individual predictions.
• Magnitude scores across the 75 on-file variants range from 2.20 to 4.50.

Notable variants

The two highest-evidence cancer and respiratory signals sit at magnitude 4.50: rs187627940 is linked to cancer and rs35647788 to respiratory traits. Two additional magnitude-4.50 variants, rs11247299 and rs113888749, have published research pages, though specific trait labels are not available in the current dataset for those two. Stepping down to magnitude 2.80, rs2898875 carries a metabolic association, rs7402624 a vision association, and rs903552 a kidney association. The coagulation-flagged (relating to the blood-clot formation process) variant rs11631270 sits at magnitude 2.20.

Trait associations

Cancer is the highest-magnitude trait theme, represented by rs187627940. Respiratory health is flagged at the same magnitude tier by rs35647788. The metabolic theme appears across at least three variants: rs2898875, rs10152471, and rs11247287, which provides modest cross-variant support compared with a single-hit association. Vision is represented by rs7402624, kidney function by rs903552, and blood coagulation by rs11631270. No single trait dominates the picture, suggesting this gene touches a broad set of biological systems.

Evidence quality

The full dataset covers 75 variants, 19 of which have prior published summaries. The highest-magnitude signals, at 4.50, involve cancer and respiratory traits, but individual effect sizes such as odds ratios or beta coefficients (numbers that describe how strongly a variant shifts the likelihood of a trait) are not available in the source data here. The metabolic theme gains modest credibility from appearing across three separate variants rather than one. Without sample sizes, replication cohort counts, or population breakdowns for each variant, it is not possible to rank the reliability of individual associations with confidence. All findings should be treated as preliminary leads pending review of the underlying study details.

What this is NOT

These variants are population-level statistical signals from GWAS (genome-wide association studies, which scan many people's genomes for variants statistically linked to traits) and represent averages across large groups of people, not deterministic predictors for any individual. Nothing here constitutes medical advice, a diagnosis, or a recommendation to take any action.