The Family Heart Study: rationale, design and methodology

AIMS: The Family Heart Study (FHS) aims to identify genetic risk factors associated with strong personal and familial premature cardiovascular disease (CVD) in Māori and non-Māori families in Aotearoa New Zealand, and to compare this high-risk cohort with heart-healthy controls. METHODS: Participants were recruited from Christchurch Hospital cardiology wards and Christchurch Heart Institute research cohorts. Clinical data included blood pressure, anthropometry and questionnaires on medical history and lifestyle. Blood samples were collected for genetic and biomarker analyses. Genotyping and deoxyribonucleic acid (DNA) methylation profiling were performed using commercial cardiovascular arrays. RESULTS: To date, 472 individuals have been screened, with 28 meeting strict inclusion criteria for documented personal and family history of early-onset CVD. The cohort includes 25 NZ European and three Māori participants, with a mean CVD onset age of 46.6 years. Most participants (75%) had a history of myocardial infarction, and the median number of affected first-degree relatives was two. After quality control, 185,514 single-nucleotide polymorphisms and 454,608 DNA methylation sites were retained for downstream analyses. CONCLUSION: The FHS represents a rare cohort with strong inherited susceptibility to premature CVD. Ongoing recruitment will support investigation of genetic and epigenetic contributors to early-onset CVD in New Zealand.