ArticleAmerican journal of human genetics2014
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Differential gene expression in nasal airway epithelium from overweight or obese youth with asthma.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Pooled it
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- Asthma-Genomic Advances Toward Risk Prediction.Clinics in chest medicine · 2024Review
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- Genomic architecture and functional effects of potential human inversion supergenes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- The early-life exposome modulates the effect of polymorphic inversions on DNA methylation.Communications biology · 2022Article
- Clinical Characteristics and Management Strategies for Adult Obese Asthma Patients.Journal of asthma and allergy · 2022Review
- A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci.Nature communications · 2021Article
- Discovery and Mediation Analysis of Cross-Phenotype Associations Between Asthma and Body Mass Index in 12q13.2.American journal of epidemiology · 2021Article
- Activation of mitochondrial TUFM ameliorates metabolic dysregulation through coordinating autophagy induction.Communications biology · 2021Article
- Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases.American journal of human genetics · 2020Article
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- Article
- Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis.Human genomics · 2019Article
- Evolutionary and functional impact of common polymorphic inversions in the human genome.Nature communications · 2019Article
- Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene.PLoS genetics · 2019Article
- scoreInvHap: Inversion genotyping for genome-wide association studies.PLoS genetics · 2019Article
- Peak flow variability in childhood and body mass index in adult life.The Journal of allergy and clinical immunology · 2019Article
- Eleven loci with new reproducible genetic associations with allergic disease risk.The Journal of allergy and clinical immunology · 2019Article
- Effects of interleukin-6 receptor blockade on allergen-induced airway responses in mild asthmatics.Clinical & translational immunology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 8 institutions in 5 countries.
Funding
Abstract
The prevalence of asthma and obesity is increasing worldwide, and obesity is a well-documented risk factor for asthma. The mechanisms underlying this association and parallel time trends remain largely unknown but genetic factors may be involved. Here, we report on a common ~0.45 Mb genomic inversion at 16p11.2 that can be accurately genotyped via SNP array data. We show that the inversion allele protects against the joint occurrence of asthma and obesity in five large independent studies (combined sample size of 317 cases and 543 controls drawn from a total of 5,809 samples; combined OR = 0.48, p = 5.5 × 10(-6)). Allele frequencies show remarkable worldwide population stratification, ranging from 10% in East Africa to 49% in Northern Europe, consistent with discordant and extreme genetic drifts or adaptive selections after human migration out of Africa. Inversion alleles strongly correlate with expression levels of neighboring genes, especially TUFM (p = 3.0 × 10(-40)) that encodes a mitochondrial protein regulator of energy balance and inhibitor of type 1 interferon, and other candidates for asthma (IL27) and obesity (APOB48R and SH2B1). Therefore, by affecting gene expression, the ~0.45 Mb 16p11.2 inversion provides a genetic basis for the joint susceptibility to asthma and obesity, with a population attributable risk of 39.7%. Differential mitochondrial function and basal energy balance of inversion alleles might also underlie the potential selection signature that led to their uneven distribution in world populations.
Indexed as
Identifiers
What OpenQuestion holds
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.