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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
PubMed

Insights

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.
Abstract

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