ArticleHuman genetics2014
Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease.
Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.Genes · 2021Pooled it
- Field synopsis and meta-analyses of genetic epidemiological evidence for Kashin-Beck disease, an endemic osteoarthropathy in China.Molecular genetics and genomics : MGG · 2016Pooled it
- Genomic Insights Into the Body Size Evolution in Felidae (Mammalia: Carnivora).Ecology and evolution · 2026Article
- Whole-Transcriptome Sequencing of Knee Joint Cartilage from Kashin-Beck Disease and Osteoarthritis Patients.International journal of molecular sciences · 2024Article
- Hic-5 regulates extracellular matrix-associated gene expression and cytokine secretion in cancer associated fibroblasts.Experimental cell research · 2024Article
- Association ofOpen medicine (Warsaw, Poland) · 2024Article
- Genetic Association Analysis of Copy Number Variations for Meat Quality in Beef Cattle.Foods (Basel, Switzerland) · 2023Article
- A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.NPJ genomic medicine · 2021Article
- Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease.Histochemistry and cell biology · 2020Article
- Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan.Molecular genetics & genomic medicine · 2019Article
- Pathway-based network analyses and candidate genes associated with Kashin-Beck disease.Medicine · 2019Review
- Copy Number Variation Pattern for Discriminating MACROD2 States of Colorectal Cancer Subtypes.Frontiers in bioengineering and biotechnology · 2019Article
- EPS-LASSO: test for high-dimensional regression under extreme phenotype sampling of continuous traits.Bioinformatics (Oxford, England) · 2018Article
- Integrating genome-wide DNA methylation and mRNA expression profiles identified different molecular features between Kashin-Beck disease and primary osteoarthritis.Arthritis research & therapy · 2018Article
- Variable Susceptibility to Cigarette Smoke-Induced Emphysema in 34 Inbred Strains of Mice Implicates Abi3bp in Emphysema Susceptibility.American journal of respiratory cell and molecular biology · 2017Article
- Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease.Scientific reports · 2017Article
- A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease.Scientific reports · 2016Article
- Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.Functional & integrative genomics · 2016Article
- Article
- Bioinformatics-Based Identification of MicroRNA-Regulated and Rheumatoid Arthritis-Associated Genes.PloS one · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kashin-Beck disease (KBD) is a chronic osteochondropathy. In this study, we conducted the first genome-wide copy number variation study (GCNVS) of KBD totally involving 2,743 Chinese Han adults. GCNVS was first performed using Affymetrix Human SNP6.0 Arrays. The identified copy number variations (CNVs) were then replicated in an independent Chinese Han sample containing 1,026 subjects. SNP genotyping, CNV identification and quality control were implemented by Birdsuite. STRUCTURE and EIGENSTRAT were applied for controlling potential population stratification in the GCNVS. Association analysis was conducted using PLINK. Microarray and qRT-PCR were also conducted to compare the expression levels of the genes overlapping with identified CNVs between KBD patients and healthy controls. GCNVS found that CNV452 (P value = 7.78 × 10(-5)) overlapping with ABI3BP gene was significantly associated with KBD. Replication association study observed that rs9850273 (P value = 0.008) and rs7613610 (P value = 0.021) in ABI3BP gene were significantly associated with KBD. Gene expression analysis also found that ABI3BP was up-regulated in KBD patients compared to healthy controls. Our results suggest that ABI3BP was a novel susceptibility gene for KBD.
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.