OR13G1 and Coronary Artery Disorder

Recent multi‑patient genetic studies have investigated the association between OR13G1 (HGNC:14999) and coronary artery disorder (MONDO_0005010). In one large replication study of familial hypercholesterolemia (FH) patients, 2145 individuals were evaluated and a modest but statistically significant association was observed for the rs1151640 polymorphism in OR13G1 (hazard ratio 1.14, 95% CI 1.01–1.28, P = 0.03) (PMID:18599554). This finding suggested that genetic variation in OR13G1 may confer a small increase in disease risk, providing some genetic evidence for its role in coronary pathology.

The reported genetic signal was based on classical single nucleotide polymorphism (SNP) association testing. Although the effect size was nominal and derived from a robust FH cohort, only this single study provided supportive evidence for the association in the context of coronary artery disorder, thus limiting the overall strength of the genetic evidence. No detailed variant-level HGVS c. changes were described in the available literature for OR13G1, and therefore no specific coding variant could be highlighted in the summary.

In contrast, a second independent case–control study that assessed six candidate SNPs, including those in OR13G1, in patients with coronary artery disorder did not replicate the association. In this study, despite a rigorous analysis of 413 MI cases and 792 controls, the findings for OR13G1 did not deviate significantly from the null hypothesis (PMID:17967605), raising concerns about the reproducibility of the initial signal.

The lack of consistent segregation data and the absence of corroborative functional studies significantly limit our confidence in the pathogenic role of OR13G1 in coronary artery disorder. There were no reported analyses of affected relatives with segregating variants, nor were any animal or cellular models provided to support a mechanistic link between OR13G1 variation and disease pathology.

Overall, the genetic evidence remains conflicting. While one study provided a nominal association based on a large FH cohort, the failure to replicate this finding in an independent analysis and the absence of complementary functional data temper its clinical relevance. This mixed genetic picture suggests that further comprehensive investigations are needed to clarify whether OR13G1 qualifies as a contributory factor in coronary artery disorder.

Key take‑home sentence: Although initial studies suggest that OR13G1 may modestly influence coronary artery disorder risk, conflicting replication findings and a lack of functional evidence currently preclude its routine use in clinical decision‑making.

References

• European heart journal • 2008 • Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high‑risk population with familial hypercholesterolemia PMID:18599554
• American heart journal • 2007 • Associations with myocardial infarction of six polymorphisms selected from a three‑stage genome‑wide association study PMID:17967605

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