Evidence mapPaperPMID 40306283Full record

ArticleAmerican journal of human genetics2025

Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.

Teng Hiang Heng, Klaudia Walter, Qin Qin Huang, Juha Karjalainen, Mark J Daly, Henrike O Heyne, FinnGen, Daniel S Malawsky, Georgios Kalantzis, Genes & Health Research Team and 3 more

Abstract read
In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Jiangtang Decoction for Type 2 Diabetes and NAFLD: Integrative AnalysisEndocrine, metabolic & immune disorders drug targets · 2026
    Article
  5. Article
  6. Article
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.

Teng Hiang HengWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK. Electronic address: teng-hiang.heng@sanger.ac.uk.
Klaudia WalterWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Qin Qin HuangWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Juha KarjalainenBroad Institute, 415 Main Street, Cambridge, MA 02142, USA.
Mark J DalyBroad Institute, 415 Main Street, Cambridge, MA 02142, USA.
Henrike O HeyneBroad Institute, 415 Main Street, Cambridge, MA 02142, USA; Hasso Plattner Institute, 14482 Potsdam, Germany.
FinnGen
Daniel S MalawskyWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Georgios KalantzisWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Genes & Health Research Team
Sarah FinerWolfson Institute for Population Health, Queen Mary University of London, London E1 4NS, UK.
David A van HeelBlizard Institute, Queen Mary University of London, London E1 2AT, UK.
Hilary C MartinWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK. Electronic address: hilary.martin@sanger.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic association studies have focused on testing additive models in cohorts with European ancestry. Little is known about recessive effects on common diseases, specifically for non-European ancestry. Genes & Health is a cohort of British Pakistani and Bangladeshi individuals with elevated rates of consanguinity and endogamy, making it suitable to study recessive effects. We imputed variants into a genotyped dataset (n = 44,190) by using two reference panels: a set of 4,982 whole-exome sequences from within the cohort and the Trans-Omics for Precision Medicine (TOPMed-r2) panel. We performed association testing with 898 diseases from electronic health records. 185 independent loci reached genome-wide significance (p < 5 × 10

Indexed as

Genes, RecessiveGenetic Predisposition to DiseaseBangladeshCohort StudiesConsanguinityFemaleGenome-Wide Association StudyGenotypeHumansMalePakistanPhenotypePolymorphism, Single NucleotideUnited Kingdomautozygositycommon diseasescomplex traitsGWASimputationnon-European ancestryrecessive effects

Identifiers

PMID40306283
PMCPMC12256797

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.