FGFBP1 – Hypertensive Disorder

The association between FGFBP1 and hypertensive disorder is supported by robust multi‐patient studies. In a family‐based study of 207 Polish families comprising 629 subjects (PMID:21436287), investigators observed that the major allele of an FGFBP1 polymorphism (rs16892645) was transmitted to hypertensive offspring more frequently than expected by chance, indicating a strong genetic signal.

Replication in an independent cohort of 807 unrelated subjects further validated this association, reinforcing the genetic evidence and its statistical significance (PMID:21436287).

Although a specific coding variant in HGVS nomenclature was not provided, the consistent transmission pattern across families underscores the genetic basis of the phenotype. The study emphasizes the role of FGFBP1 in a familial context of hypertension and supports its candidacy as a susceptibility gene.

Functional analyses in hypertensive subjects revealed approximately 1.5-fold higher renal FGFBP1 mRNA and 1.4-fold higher protein expression compared with normotensive controls. Immunohistochemistry localized the upregulation predominantly to the glomerulus and juxtaglomerular space (PMID:21436287).

These complementary genetic and functional findings integrate to provide a coherent narrative for FGFBP1 involvement in the pathogenesis of hypertensive disorder. The evidence meets ClinGen criteria for a strong gene‑disease association given the multi‐family transmission analysis and replication in independent cohorts.

Key take‑home: FGFBP1 represents a robust candidate for clinical risk assessment in hypertensive disorder, supporting its integration into diagnostic decision‑making and potential precision medicine applications.

References

• Journal of the American Society of Nephrology : JASN • 2011 • Pathway analysis shows association between FGFBP1 and hypertension PMID:21436287

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