ReviewClinical and experimental immunology2009
Copy number variation in the human genome and its implication in autoimmunity.
Review in Clinical and experimental immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
What it found
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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
44 citing papers in PubMed, 81 citations in OpenAlex.
- The Amphibian Major Histocompatibility Complex-A Review and Future Outlook.Journal of molecular evolution · 2025Review
- E2F1 copy number variations in germline and breast cancer: a retrospective study of 222 Italian women.Molecular medicine (Cambridge, Mass.) · 2021Article
- An Evolutionary Perspective on the Impact of Genomic Copy Number Variation on Human Health.Journal of molecular evolution · 2020Review
- Association ofDisease markers · 2020Article
- Nonendocrine mechanisms of sex bias in rheumatic diseases.Nature reviews. Rheumatology · 2019Review
- Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis.Scientific reports · 2019Article
- Functional variation at an expressed MHC class IIβ locus associates with Ranavirus infection intensity in larval anuran populations.Immunogenetics · 2019Article
- Copy number profiling of Oncotype DX genes reveals association with survival of breast cancer patients.Molecular biology reports · 2018Article
- Article
- Genome-Wide Detection of CNVs and Their Association with Meat Tenderness in Nelore Cattle.PloS one · 2016Article
- Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.Human molecular genetics · 2015Article
- Genome-wide association study of copy number variations (CNVs) with opioid dependence.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2015Article
- Article
- Molecular mechanisms in autoimmune type 1 diabetes: a critical review.Clinical reviews in allergy & immunology · 2014Review
- Human gene copy number variation and infectious disease.Human genetics · 2014Review
- Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus.Arthritis research & therapy · 2014Article
- The application of genome-wide SNP genotyping methods in studies on livestock genomes.Journal of applied genetics · 2014Review
- Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population.Journal of genetics · 2014Article
- Single-nucleotide polymorphisms and copy number variations of theBiomedical reports · 2014Article
- Current challenges in the bioinformatics of single cell genomics.Frontiers in oncology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The causes of autoimmune disease remain poorly defined. However, it is known that genetic factors contribute to disease susceptibility. Hitherto, studies have focused upon single nucleotide polymorphisms as both tools for mapping and as probable causal variants. Recent studies, using genome-wide analytical techniques, have revealed that, in the genome, segments of DNA ranging in size from kilobases to megabases can vary in copy number. These changes of DNA copy number represent an important element of genomic polymorphism in humans and in other species and may therefore make a substantial contribution to phenotypic variation and population differentiation. Furthermore, copy number variation (CNV) in genomic regions harbouring dosage-sensitive genes may cause or predispose to a variety of human genetic diseases. Several recent studies have reported an association between CNV and autoimmunity in humans such as systemic lupus, psoriasis, Crohn's disease, rheumatoid arthritis and type 1 diabetes. The use of novel analytical techniques facilitates the study of complex human genomic structures such as CNV, and allows new susceptibility loci for autoimmunity to be found that are not readily mappable by single nucleotide polymorphism-based association analyses alone.
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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.