Evidence map›Paper›PMID 36097220›Full record

ArticleNature medicine2022

Genetic risk factors have a substantial impact on healthy life years.

Sakari Jukarainen, Tuomo Kiiskinen, Sara Kuitunen, Aki S Havulinna, Juha Karjalainen, Mattia Cordioli, Joel T Rämö, Nina Mars, FinnGen, Kaitlin E Samocha and 3 more

Abstract read
In one paragraph

Article in Nature medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Exome-Wide Analysis Identifies a RareKidney international reports · 2026
    Article
  8. Article
  9. Article
  10. Review
  11. ThebioRxiv : the preprint server for biology · 2025
    Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Polygenic Risk Scores in Human Disease.Clinical chemistry · 2025
    Review
  17. NovelPharmacogenomics and personalized medicine · 2025
    Article
  18. Article
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Sakari JukarainenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. sakari.jukarainen@helsinki.fi.ORCID http://orcid.org/0000-0001-8169-8954
Tuomo KiiskinenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-6306-8227
Sara KuitunenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Aki S HavulinnaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Juha KarjalainenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Mattia CordioliInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-4872-0520
Joel T RämöInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-6429-5149
Nina MarsInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
FinnGen
Kaitlin E SamochaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hanna M OllilaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Matti PirinenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-1664-1350
Andrea GannaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. andrea.ganna@helsinki.fi.ORCID http://orcid.org/0000-0002-8147-240X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The impact of genetic variation on overall disease burden has not been comprehensively evaluated. We introduce an approach to estimate the effect of genetic risk factors on disability-adjusted life years (DALYs; 'lost healthy life years'). We use genetic information from 735,748 individuals and consider 80 diseases. Rare variants had the highest effect on DALYs at the individual level. Among common variants, rs3798220 (LPA) had the strongest individual-level effect, with 1.18 DALYs from carrying 1 versus 0 copies. Being in the top 10% versus the bottom 90% of a polygenic score for multisite chronic pain had an effect of 3.63 DALYs. Some common variants had a population-level effect comparable to modifiable risk factors such as high sodium intake and low physical activity. Attributable DALYs vary between males and females for some genetic exposures. Genetic risk factors can explain a sizable number of healthy life years lost both at the individual and population level.

Indexed as

Global Burden of DiseaseSodium, DietaryFemaleGlobal HealthHealth StatusHumansMaleQuality-Adjusted Life YearsRisk FactorsSodium, Dietary

Identifiers

PMID36097220
PMCPMC9499866

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.