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Approved Research

Impact of germline VHL variants on oncologic and metabolic phenotypes in adult Biobank participants

Principal Investigator: Dr Amit Tirosh
Approved Research ID: 70580
Approval date: December 14th 2021

Lay summary

Aims. Von Hippel-Lindau disease (VHL), increase risk for several tumors of the central nervous syndrome, kidneys, pancreas, adrenal and others. We wish to study whether specific genetic variation that are currently considered innocent, lead to the syndrome and whether they are associated with disease severity and outcome. We also want to investigate their association with metabolic syndrome, as was previously suggested  

Rationale. Several studies suggested genetic relevance for apparently innocent ("silent") genetic alterations in VHL gene, and association of VHL gene alteration with clinically significant manifestations.

Duration. 36 months

Public health impact. First, our study may enable stratification of morbidity and mortality according to specific VHL variants and thus allow planning patient-specific follow-up and intervention program. Identifying clinical significance by apparently innocent genetic variants will expand the patient population that is diagnosed with VHL and may pronouncedly impact their clinical surveillance and management.

Second, we will assess whether changes in the VHL gene are associated with metabolic diseases, such as diabetes, obesity, and the related consequences of cardiovascular disease. Such association was suggested, but has never been examined in a large cohort, and can be readily extrapolated from the UK biobank dataset.

Finally, we will suggest patient-specific surveillance program with the aim of earlier identification of VHL related morbidity thus possibly improving patient outcome.