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Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetic factors contributing to hypertension might also be helpful in identifying people at heightened risk for cardiovascular disease, even in those with normal blood pressure, a study appearing in this week's JAMA Cardiology finds. Hypertension is a major cardiovascular disease risk factor, but variability in measured blood pressure is a key clinical challenge for optimal management. To investigate whether the genetic factors that drive high blood pressure can help inform cardiovascular disease management, a team led by researchers from Massachusetts General Hospital examined data on more than 331,000 middle-aged participants in the UK Biobank to evaluate incident cardiovascular disease using a blood pressure polygenic risk score, independent of measured blood pressures and the use of antihypertensive medications. They find that genetically predicted blood pressure risk was associated with cardiovascular risk, identifying one in 10 individuals with normal measured blood pressure who had comparable cardiovascular disease risk as those with untreated hypertension. The results, the study's authors write, suggest that blood pressure polygenic risk scores may be used to complement measured blood pressure to achieve earlier and targeted cardiovascular disease prevention.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.