PCSK5, variants, traits, and what the research shows

PCSK5 - what this gene does

Based on the variants catalogued to date, PCSK5 is linked to a broad range of trait themes spanning immune function, neurological conditions, liver-related phenotypes, mental health, and rare diseases.

Key takeaways

• Variants in this gene have been linked to five distinct trait areas: immune function, neurological conditions, liver health, mental health, and rare diseases.
• Six variants reach the highest magnitude score on file, and together they span all five of these trait categories.
• Rare disease connections appear across multiple variants at different evidence levels, making it the most recurrent trait category in the current dataset.
• Most associations come from large population-level genome scans - they describe group-level patterns, not individual outcomes.
• 130 variants are on file for this gene, with 23 carrying published research summaries.

Notable variants

The six highest-magnitude variants on file all score 4.50. rs10115735 is linked to immune traits; rs10521467 to neurological conditions; rs140064789 to rare diseases; rs17667600 to liver-related traits; and rs73650494 to mental health. rs141661940 also reaches magnitude 4.50 but lacks a catalogued trait label in the current data. Among the magnitude-3.00 tier, rs1038727704 and rs1822621346 add further rare disease signals.

Trait associations

The variants on file touch five distinct areas. Immune function is represented by rs10115735. Neurological conditions appear via rs10521467. Liver-related phenotypes surface through rs17667600. Mental health associations are flagged for rs73650494. Rare disease links appear across multiple variants - rs140064789, rs1038727704, and rs1822621346 - making rare disease the most recurrently represented category in the current dataset. Several magnitude-3.00 variants, including rs1168241473, rs1236968681, and rs1262895317, lack catalogued trait labels in the current data and are therefore omitted from trait-specific claims.

Evidence quality

The dataset includes 130 variants in total, of which 23 carry published editorial summaries. The six highest-magnitude variants (all at magnitude 4.50) span five distinct trait categories, suggesting a broad biological footprint rather than a single concentrated signal. The associations on file are expected to derive primarily from GWAS - genome-wide association studies, which scan genetic variation across large populations (often tens of thousands to hundreds of thousands of individuals) to identify statistical correlations with traits. Individual-variant effect sizes such as odds ratios, beta coefficients, or sample sizes are not available in the current summary data, which limits further characterization of signal strength. The recurrence of rare disease links across both the 4.50- and 3.00-magnitude tiers is notable; however, replication details and functional validation data are not available here.

What this is NOT

These variants are population-level statistical signals - they describe patterns observed across large groups of people, not deterministic outcomes for any individual. This content does not constitute medical advice, a diagnosis, or a recommendation to take any action.