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PreprintCited by 110Genetic Associations and EpidemiologyHealth, Environment, Cognitive AgingGenetic Mapping and Diversity in Plants and Animals

The HUNT Study: a population-based cohort for genetic research

Open access
Brumpton, Ben M., Graham, Sarah, Surakka, Ida, Skogholt, Anne Heidi, Løset, Mari, Fritsche, Lars G., Wolford, Brooke, Zhou, Wei +22 more·2021·Cell Genomics
DOI 10.1101/2021.12.23.21268305PMC PMC9903730

Preprint — published as 10.1016/j.xgen.2022.100193

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Abstract

Summary: The Trøndelag Health Study (HUNT) is a population-based cohort of ∼229,000 individuals recruited in four waves beginning in 1984 in Trøndelag County, Norway. ∼88,000 of these individuals have available genetic data from array genotyping. HUNT participants were recruited during 4 community-based recruitment waves and provided information on health-related behaviors, self-reported diagnoses, family history of disease, and underwent physical examinations. Linkage via the Norwegian personal identification number integrates digitized health care information from doctor visits and national health registries including death, cancer and prescription registries. Genome-wide association studies of HUNT participants have provided insights into the mechanism of cardiovascular, metabolic, osteoporotic and liver-related diseases, among others. Unique features of this cohort that facilitate research include nearly 40 years of longitudinal follow-up in a motivated and well-educated population, family data, comprehensive phenotyping, and broad availability of DNA, RNA, urine, fecal, plasma, and serum samples.

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  • GWAS using siblings have been previously limited by available data, but are now feasible by combining well-established family studies with recent large biobanks.

    “GWAS using siblings (within-sibship GWAS) (Fig. 2) have been previously limited by available data, but are now feasible by combining well-established family studies with recent large biobanks that incidentally or by design contain thousands of sibships35–39.”

    From Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects (2022) · cites this paper as [39]

    The Causal inference and family effects section says a lack of genotyped family data previously limited these designs. The family-based design table reports more than 15,000 sibling pairs in HUNT and lists within-family GWAS, supporting their feasibility there. Our copy does not say that feasibility arose from combining established family studies with recent large biobanks. (LLM, conf=0.84)

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Authors
Brumpton, B. M., Graham, S., Surakka, I., Skogholt, A. H., Løset, M., Fritsche, L. G., Wolford, B., Zhou, W., Nielsen, J. B., Holmen, O. L., Gabrielsen, M. E., Thomas, L., Bhatta, L., Rasheed, H., Zhang, H., Kang, H. M., Hornsby, W., Moksnes, M. R., Coward, E., Melbye, M., Giskeødegård, G. F., Fenstad, J., Krokstad, S., Næss, M., Langhammer, A., Boehnke, M., Abecasis, G. R., Åsvold, B. O., Hveem, K., & Willer, C. J.
Affiliations
  • Norwegian University of Science and Technology (NO)
  • University of Michigan (US)
  • Broad Institute (US)
  • Statens Serum Institut (DK)
  • Regeneron (United States) (US)
Corresponding author
Brumpton, Ben M.
ORCID
Venue
Cell Genomics
Publisher
openRxiv
Published
2021-12-25
Volume
2
Issue
10
Pages
100193-100193
ISSN
2666-979X (ISSN-L)
DOI
10.1101/2021.12.23.21268305
PMC
PMC9903730
OpenAlex
W4304695407
Cited by
110
References
79
Citations by year
2026: 20 · 2025: 29 · 2024: 29 · 2023: 20 · 2022: 12
FWCI
13.57
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Cell Genomics (publishedVersion, cc-by)
  • medRxiv (acceptedVersion)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
  • NORA - Norwegian Open Research Archives (submittedVersion, cc-by)
Funders
  • Stiftelsen Kristian Gerhard Jebsen
  • Norges Teknisk-Naturvitenskapelige Universitet
  • School of Public Health, University of Michigan
  • Helse Midt-Norge
  • Norges Forskningsråd
  • National Institutes of Health
  • Medical School, University of Michigan
  • Fakultet for medisin og helsevitenskap, Norges Teknisk-Naturvitenskapelige Universitet
  • Faculty of Medicine and Health, University of Sydney
  • Norwegian Institute of Public Health
  • National Heart, Lung, and Blood Institute (R01HL109946)
  • National Human Genome Research Institute (T32HG000040)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords
HUNT study, Trøndelag Health Study, population-based cohort, genetic research, genome-wide association study, cardiovascular disease, metabolic disorders, osteoporosis, liver disease, longitudinal follow-up, phenotyping

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