SCAND3 and Cardiovascular Disorder

SCAND3 has recently been implicated in cardiovascular phenotypes, with evidence emerging from multi‐patient association studies in an Iranian population. The potential link between SCAND3 and cardiovascular disorder (MONDO_0004995) is under active investigation, given the clinical importance of blood pressure regulation and its downstream effects on cardiovascular health.

In one study examining 7,694 Iranian adults, genome‑wide association analysis identified SCAND3 alongside other candidates such as ABHD17C and FBN1 as genes nominally associated with blood pressure traits. The study reported signals that reached genome‑wide borderline significance (PMID:34083597).

A subsequent investigation using a nested case–control design in 4,214 unrelated individuals further explored gene–gene interactions. This study, which also examined genes including AGT and TNXB, detected SCAND3 among the group of candidate loci influencing cardiovascular regulation, although the primary associations were seen with the other genes (PMID:35577038).

The genetic evidence for SCAND3 largely derives from population‐based statistical associations. No clear coding variants have been identified, and there are no detailed variant-level data (e.g. a defined HGVS string) available for SCAND3 from the supplied reports. Moreover, there is no segregation data, as studies did not report additional affected relatives in familial settings.

Functional or experimental studies that directly evaluate the pathogenic mechanism of SCAND3 in cardiovascular disorder are currently lacking. The absence of in vitro, in vivo, or rescue experiments means that no functional confirmation supports the observed genomic associations, and the mechanism of pathogenicity remains unresolved.

In conclusion, while multi‐patient studies provide suggestive genetic evidence linking SCAND3 to cardiovascular disorder, the overall clinical validity is currently rated as Limited. This provisional classification underscores the need for additional segregation analyses and functional studies. Key take‑home message: Although the association is statistically intriguing, further research is essential to validate SCAND3 as a clinically actionable target for cardiovascular disorder.

References

• Scientific Reports • 2021 • Genome‑wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension PMID:34083597
• Gene • 2022 • The AGT epistasis pattern proposed a novel role for ZBED9 in regulating blood pressure: Tehran Cardiometabolic genetic study (TCGS) PMID:35577038

Evidence Based Scoring (AI generated)