Year: 2022
Type: dissertation
Abstract: Current knowledge of phenotypic and genotypic hypertension risk factors has not been effectively translated into personalized hypertension care. The aim of this thesis was to explore hypertension subtyping by applying publicly available supervised and unsupervised subtyping algorithms to large datasets with extensive phenotyping and genotyping. This thesis included participants from two large Finnish studies: 32,442 from FINRISK and 218,792 from FinnGen. FINRISK is a cross-sectional population survey carried out every five years on risk factors for chronic, non-communicable diseases. FinnGen is a public-private partnership research project combining imputed genotype data from biobanks, patient cohorts, and prospective epidemiological surveys. Because every Finnish citizen is linked to health registers via a personal identity code, accurate follow-up is possible for all major end points, including hypertension and cardiovascular disease. In addition, we used publicly available genome-wide association data from several large-scale studies, including the UK Biobank. In FINRISK, we observed a phenotypic hypertension subgroup characterized by high blood sugar and elevated body mass index, conferring an increased risk for cardiovascular disease. In a genotyped subset of FINRISK, systolic and diastolic blood pressure polygenic risk scores improved the predictive power of an externally validated clinical hypertension risk equation. Using publicly available genetic association data, we observed four genetic hypertension components corresponding to recognizable clinical features and demonstrated their clinical relevance in FINRISK and FinnGen. In conclusion, data support the existence of a hyperglycemic hypertension subtype and robust genetic hypertension subtypes. Our findings demonstrate the current ability and future potential of genetics together with methodological development to improve personalized hypertension care.
Source: UTUPub (University of Turku)
Author: Vaura, Felix
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funder: Turun Yliopisto
OpenAlex ID: W7033087313