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OR13G1 – Myocardial Infarction

Recent gene‑centric association studies have identified a potential link between OR13G1 (HGNC:14999) and myocardial infarction (MONDO_0005068). In an initial report involving 340 cases and 346 controls (PMID:16175505), a variant in OR13G1 was associated with an increased risk of myocardial infarction (odds ratio ~1.40). A subsequent replication study in 2145 familial hypercholesterolemia patients demonstrated a modest association for the rs1151640 polymorphism in OR13G1 (PMID:18599554).

However, larger and independent investigations, including one study with 3657 myocardial infarction cases (PMID:19709766) and another with 413 early‑onset MI cases (PMID:17967605), failed to replicate these findings. Furthermore, functional studies to clarify a mechanism of pathogenicity for OR13G1 are currently lacking. Overall, the conflicting genetic evidence places the association in the disputed category, underscoring the need for further large‐scale and mechanism‑oriented investigations prior to its adoption in clinical practice. Key take‑home: Current data do not support the clinical implementation of OR13G1 testing for myocardial infarction risk assessment.

References

  • American journal of human genetics • 2005 • Identification of four gene variants associated with myocardial infarction PMID:16175505
  • European heart journal • 2008 • Replication study of 10 genetic polymorphisms associated with coronary heart disease PMID:18599554
  • International journal of cardiology • 2011 • Variations of specific non‑candidate genes and risk of myocardial infarction: a replication study PMID:19709766
  • American heart journal • 2007 • Associations with myocardial infarction of six polymorphisms selected from a three‑stage genome‑wide association study PMID:17967605

Evidence Based Scoring (AI generated)

Gene–Disease Association

Disputed

Initial association studies reported a positive link in moderate‐sized cohorts (340 cases and 346 controls [PMID:16175505], 2145 FH patients [PMID:18599554]), but subsequent larger studies with 3657 and 413 MI cases (PMID:19709766, PMID:17967605) did not confirm the association.

Genetic Evidence

Limited

While early reports indicated a modest association with OR13G1 variants, conflicting replication studies and a lack of consistent effect sizes suggest limited genetic evidence.

Functional Evidence

Limited

No substantial functional studies have provided experimental validation for a pathogenic mechanism linking OR13G1 to myocardial infarction.