ArticlePLoS genetics2019
Genetic architecture of human thinness compared to severe obesity.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.
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Who cites it
71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- In the context of the triple burden of malnutrition: A systematic review of gene-diet interactions and nutritional status.Critical reviews in food science and nutrition · 2024Pooled it
- Is constitutional thinness really different from anorexia nervosa? A systematic review and meta-analysis.Reviews in endocrine & metabolic disorders · 2021Pooled it
- Melanocortin-4 Receptor Gene Variants and Weight Change Following Switch to Integrase Inhibitor-Based Antiretroviral Therapy.Open forum infectious diseases · 2025Trial
- CYP1A2 polymorphisms modify the association of habitual coffee consumption with appetite, macronutrient intake, and body mass index: results from an observational cohort and a cross-over randomized study.International journal of obesity (2005) · 2022Trial
- Aberrant one-carbon metabolism and ancestral genetics underlie edematous severe acute malnutrition.Nature communications · 2026Article
- Optimizing phenotype scale improves genetic analyses in large-scale biobanks.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health.Molecular psychiatry · 2026Article
- Epigenetic and polygenic contributions to body mass index: a validation study of predictive models.Clinical epigenetics · 2026Article
- Behavioural and genetic correlates of malnutrition.The British journal of nutrition · 2026Article
- Identifying pleiotropic genes for backfat thickness and semen traits in pigs using GWAS summary data.Journal of animal science · 2026Article
- Polygenic modeling of genetic effects on both phenotypic mean and variance: distributional regression for BMI, blood and urine biomarkers in the UK Biobank.Frontiers in bioinformatics · 2026Article
- Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.Nature medicine · 2025Article
- Influence of body composition on energy metabolism in females with constitutional thinness.European journal of clinical nutrition · 2025Article
- Unraveling the Genetic Architecture of Obesity: A Path to Personalized Medicine.Diagnostics (Basel, Switzerland) · 2025Review
- Post-genome-wide association study dissects genetic vulnerability and risk gene expression of Sjögren's disease for cardiovascular disease.Journal of translational medicine · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Considerations on efforts needed to improve our understanding of the genetics of obesity.International journal of obesity (2005) · 2025Review
- Article
- Genomic network analysis characterizes genetic architecture and identifies trait-specific biology.medRxiv : the preprint server for health sciences · 2024Article
- Identification of sensitive periods of weight status transition over the lifespan in Chinese population.BMC medicine · 2024Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
The variation in weight within a shared environment is largely attributable to genetic factors. Whilst many genes/loci confer susceptibility to obesity, little is known about the genetic architecture of healthy thinness. Here, we characterise the heritability of thinness which we found was comparable to that of severe obesity (h2 = 28.07 vs 32.33% respectively), although with incomplete genetic overlap (r = -0.49, 95% CI [-0.17, -0.82], p = 0.003). In a genome-wide association analysis of thinness (n = 1,471) vs severe obesity (n = 1,456), we identified 10 loci previously associated with obesity, and demonstrate enrichment for established BMI-associated loci (pbinomial = 3.05x10-5). Simulation analyses showed that different association results between the extremes were likely in agreement with additive effects across the BMI distribution, suggesting different effects on thinness and obesity could be due to their different degrees of extremeness. In further analyses, we detected a novel obesity and BMI-associated locus at PKHD1 (rs2784243, obese vs. thin p = 5.99x10-6, obese vs. controls p = 2.13x10-6 pBMI = 2.3x10-13), associations at loci recently discovered with much larger sample sizes (e.g. FAM150B and PRDM6-CEP120), and novel variants driving associations at previously established signals (e.g. rs205262 at the SNRPC/C6orf106 locus and rs112446794 at the PRDM6-CEP120 locus). Our ability to replicate loci found with much larger sample sizes demonstrates the value of clinical extremes and suggest that characterisation of the genetics of thinness may provide a more nuanced understanding of the genetic architecture of body weight regulation and may inform the identification of potential anti-obesity targets.
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Registered trials
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.