MACROD2, variants, traits, and what the research shows

MACROD2 - what this gene does

Based on the variants catalogued here, MACROD2 (located on chromosome 20) is associated across an unusually broad set of trait categories - spanning rare disease, cardiovascular conditions, liver phenotypes, metabolic traits, immune function, vision, neurological outcomes, cancer, pharmacogenomics (how the body processes drugs), mental health, and hormonal traits. The underlying biological mechanism linking this gene to those diverse domains is not established from the data available here.

Key takeaways

• The highest-magnitude variant in this gene is linked to a rare disease category and carries a stronger statistical signal than all others on file
• Three independent metabolic variants and two independent liver variants suggest modest internal replication for those trait areas
• Two immune variants and two neurological variants each appear independently, lending within-gene support to those signals
• This gene's variants span at least eleven trait categories - an unusually broad spread that warrants cautious interpretation
• All associations are population-level statistical findings from genome-wide studies, not individual health predictions

Notable variants

The top-ranked variant is rs776889043 (magnitude 5.50), associated with a rare disease trait - the only entry in this gene reaching that signal strength. A large cluster of variants sits at magnitude 4.50: rs1233754 is linked to cardiovascular traits; rs140694554 and rs6034011 both flag liver phenotypes, offering within-gene replication of that liver signal; and rs148441079, rs6042935, and rs6080100 each independently associate with metabolic traits - three separate metabolic hits within one gene. Neurological signals appear through rs6131710 and rs6131755, while immune associations emerge from rs189862046 and rs367798757.

Trait associations

The variant data on file links this gene to at least eleven trait categories. Rare disease associations appear through rs776889043 and rs150246290. Cardiovascular traits are represented by rs1233754. Liver phenotypes are flagged by two independent variants - rs140694554 and rs6034011 - which modestly strengthens that signal. Metabolic traits appear three times via rs148441079, rs6042935, and rs6080100. Immune associations arise from rs189862046 and rs367798757; neurological associations from rs6131710 and rs6131755. Additional single-variant associations include rs146233573 (vision), rs6110524 (cancer), rs139438236 (pharmacogenomics), rs6074798 (mental health), and rs6110809 (hormonal traits). Three variants - rs2142139, rs429535, and rs550086140 - are on file without trait labels.

Evidence quality

All associations here derive from population-level GWAS (genome-wide association studies - research that scans large groups of people's DNA to find variants statistically linked to a trait). The strongest signal, rs776889043 at magnitude 5.50, stands above the remaining cluster of listed variants, which all sit at magnitude 4.50. Specific sample sizes, odds ratios, or beta coefficients are not available in the current dataset, limiting precise effect-size interpretation. The liver and metabolic trait categories each show more than one independent variant, which is modestly encouraging for internal replication; all other categories rest on a single variant apiece. With 206 total variants on file and trait themes spanning many body systems, some associations may reflect linkage disequilibrium - the tendency of nearby variants on the same chromosomal segment to be inherited together - rather than a direct biological effect of this gene. Independent large-cohort replication would be needed to elevate any of these signals to established findings.

What this is NOT

These variants are population-level statistical associations identified in genome-wide research - they are not deterministic predictors of any individual's health or disease risk. We do not prescribe, diagnose, or advise based on the genetic data presented here.