ArticleThe Journal of clinical investigation2012
Human SH2B1 mutations are associated with maladaptive behaviors and obesity.
Article in The Journal of clinical investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 98 papers, 2 of them syntheses 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
98 citing papers in PubMed, 2 syntheses or guidelines pooled it, 193 citations in OpenAlex.
- Genome-wide association study provides novel insight into the genetic architecture of severe obesity.PLoS genetics · 2025Pooled it
- The bi-directional association between bipolar disorder and obesity: Evidence from Meta and bioinformatics analysis.International journal of obesity (2005) · 2023Pooled it
- Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants.Molecular genetics & genomic medicine · 2026Article
- Hypothalamic obesity.Reviews in endocrine & metabolic disorders · 2026Review
- Management of Childhood Obesity.International journal of molecular sciences · 2026Review
- Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health.Molecular psychiatry · 2026Article
- Review
- Genetic determinants of BMI, diet, and fitness interact to partially explain anthropometric obesity traits but not the metabolic consequences of obesity in men and women.International journal of obesity (2005) · 2026Article
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.Current issues in molecular biology · 2026Review
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.Journal of the Endocrine Society · 2025Article
- Improving the diagnosis of hyperphagia in melanocortin-4 receptor pathway diseases.Obesity (Silver Spring, Md.) · 2025Review
- Molecular mechanisms and neural mediators of leptin action.Genes & development · 2025Review
- The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.Current obesity reports · 2025Review
- The expanding landscape of genetic causes of obesity.Pediatric research · 2025Review
- Article
- Identification of βIIΣ1-Spectrin as a Binding Partner of the GH-regulated Human Obesity Scaffold Protein SH2B1.Endocrinology · 2025Article
- Obesity: exploring its connection to brain function through genetic and genomic perspectives.Molecular psychiatry · 2025Review
38 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedSaeed, Sadia [added]
Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
Src homology 2 B adapter protein 1 (SH2B1) modulates signaling by a variety of ligands that bind to receptor tyrosine kinases or JAK-associated cytokine receptors, including leptin, insulin, growth hormone (GH), and nerve growth factor (NGF). Targeted deletion of Sh2b1 in mice results in increased food intake, obesity, and insulin resistance, with an intermediate phenotype seen in heterozygous null mice on a high-fat diet. We identified SH2B1 loss-of-function mutations in a large cohort of patients with severe early-onset obesity. Mutation carriers exhibited hyperphagia, childhood-onset obesity, disproportionate insulin resistance, and reduced final height as adults. Unexpectedly, mutation carriers exhibited a spectrum of behavioral abnormalities that were not reported in controls, including social isolation and aggression. We conclude that SH2B1 plays a critical role in the control of human food intake and body weight and is implicated in maladaptive human behavior.
Indexed as
Identifiers
What Socratic 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 Socratic graph.