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The Family Heart Study: rationale, design and methodology
Hul Juan Lau1, Anna P Pilbrow2, Judith Thomson3
1PhD Student, Christchurch Heart Institute, Department of Medicine, University of Otago, Christchurch, Aotearoa New Zealand.
The New Zealand Medical Journal
|July 30, 2026
Summary
The Family Heart Study identified a unique cohort with inherited premature cardiovascular disease (CVD) risk factors in New Zealand. Further research will explore genetic and epigenetic links to early-onset CVD.
Area of Science:
- Cardiovascular Genetics
- Genomics
- Epigenetics
Background:
- Premature cardiovascular disease (CVD) poses a significant health burden.
- Identifying genetic risk factors is crucial for early intervention.
- The Family Heart Study (FHS) focuses on high-risk families in Aotearoa New Zealand.
Purpose of the Study:
- To identify genetic risk factors for premature CVD in Māori and non-Māori families.
- To compare a high-risk cohort with heart-healthy controls.
- To investigate genetic and epigenetic contributors to early-onset CVD.
Main Methods:
- Recruitment from cardiology wards and research cohorts.
- Collection of clinical data, blood samples, and lifestyle questionnaires.
- Genotyping and DNA methylation profiling using commercial cardiovascular arrays.
Main Results:
- Screened 472 individuals; 28 met inclusion criteria for early-onset CVD.
- Cohort mean CVD onset age of 46.6 years; 75% with myocardial infarction history.
- Analyzed 185,514 SNPs and 454,608 DNA methylation sites.
Conclusions:
- The FHS established a rare cohort with strong inherited susceptibility to premature CVD.
- Ongoing recruitment will enhance the investigation of genetic and epigenetic factors.
- Findings will contribute to understanding early-onset CVD in New Zealand.
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