Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

SCAND3 and Hypertensive Disorder

Two independent genome‑wide association studies in Iranian populations provide limited evidence for an association between SCAND3 (HGNC:13851) and hypertensive disorder (MONDO:0005044). In the first study, a cohort of 7694 adults revealed nominal association signals with blood pressure traits (PMID:34083597). A second study in 4214 unrelated subjects further evaluated multiple candidate genes, including SCAND3, and identified significant gene–gene interaction effects alongside TNXB and AGT, supporting a modest link to the hypertensive phenotype (PMID:35577038). Although the reported association is based solely on statistical signals from these multi‑patient studies, the evidence remains limited given the absence of rare variant segregation data or functional assays directly confirming SCAND3’s pathogenic impact in hypertensive disorder.

The genetic evidence is derived from large-scale population studies with variable signal strength and no direct causative mutations have been definitively linked to clinical cases. In addition, no experimental or functional studies have been published that show a mechanistic role of SCAND3 in blood pressure regulation, leaving the association at a preliminary stage. Importantly, the current findings offer a basis for further research and may gradually improve future diagnostic decision‑making and therapeutic strategies in hypertension.

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)

Gene–Disease Association

Limited

Two independent multi‑patient GWAS analyses in cohorts of 7694 (PMID:34083597) and 4214 (PMID:35577038) subjects reported nominal association signals for SCAND3 with hypertensive disorder, but the absence of segregation and robust replication limits the overall evidentiary weight.

Genetic Evidence

Limited

The association is based solely on statistical signals from GWAS data with no identified segregating rare variants or confirmed pathogenic coding changes for SCAND3.

Functional Evidence

Limited

No functional assays, animal models, or rescue experiments have been reported to support a causative mechanism of SCAND3 in hypertensive disorder.