NME7 – Venous Thromboembolism

This summary evaluates the association of NME7 (HGNC:20461) with venous thromboembolism (MONDO_0005399) based on genome‑wide association studies. Two independent GWAS reports have identified NME7 as one of several loci significantly associated with VTE. The initial study included 964 cases (PMID:33592630) and 899 controls, while a replication study analyzed 1503 cases (PMID:22672568).

The genetic evidence is derived from large-scale case‑control analyses that demonstrated statistically significant association signals at the NME7 locus. Although no single coding variant was reported with a full HGVS annotation for this association, the locus was robustly detected in both studies and reached genome‑wide significance. Therefore, the association is supported by multi‑ethnic replication and strong statistical power.

In the context of inheritance, venous thromboembolism is a complex trait resulting from multifactorial inheritance. As a GWAS‑based association signal, the contribution of NME7 likely acts in conjunction with other genetic and environmental risk factors rather than following a simple Mendelian pattern. Segregation analysis in these studies was not applicable as family co‑segregation data were not obtained.

Despite the robust genetic association, there is a paucity of direct functional studies linking NME7 to the pathogenesis of VTE. Functional assessment in other disease contexts (e.g. primary ciliary dyskinesia or situs inversus) supports important biological roles for NME7, but specific experiments in VTE models are lacking. Consequently, the functional evidence remains limited, and further investigations are warranted to elucidate the mechanistic basis of the association.

In summary, the integration of replicated genetic association data underscores a strong statistical link between NME7 and venous thromboembolism. However, the current evidence is predominantly statistical, and additional functional studies are needed for a complete mechanistic understanding. The clinical utility of this association lies in its potential to serve as a risk modifier, thereby improving diagnostic and predictive frameworks for VTE.

Key Take‑home sentence: The robust, replicated genetic association of NME7 with venous thromboembolism supports its role as a risk modifier in a multifactorial disease setting, providing a promising avenue for enhanced diagnostic decision‑making.

References

• Thrombosis and haemostasis • 2021 • Single- and Multimarker Genome‑Wide Scans Evidence Novel Genetic Risk Modifiers for Venous Thromboembolism PMID:33592630
• Journal of thrombosis and haemostasis : JTH • 2012 • A genome‑wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q PMID:22672568

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