ReviewPloS one2014
Coherent somatic mutation in autoimmune disease.
Review in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
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Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- Genetic contributions to lupus nephritis in a multi-ethnic cohort of systemic lupus erythematous patients.PloS one · 2018Trial
- Review
- Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.Haematologica · 2024Article
- An Exercise Immune Fitness Test to Unravel Disease Mechanisms-A Proof-of-Concept Heart Failure Study.Journal of clinical medicine · 2024Article
- Investigating the shared genetic architecture between primary sclerosing cholangitis and inflammatory bowel diseases: a Mendelian randomization study.BMC gastroenterology · 2024Article
- Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing.Arthritis research & therapy · 2023Article
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?Frontiers in cell and developmental biology · 2022Review
- The Inflamm-Aging Model Identifies Key Risk Factors in Atherosclerosis.Frontiers in genetics · 2022Article
- Accurate Prediction of Protein Sequences for Proteogenomics Data Integration.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Uncovering potential single nucleotide polymorphisms, copy number variations and related signaling pathways in primary Sjogren's syndrome.Bioengineered · 2021Article
- Origins and characterization of variants shared between databases of somatic and germline human mutations.BMC bioinformatics · 2020Article
- Somatic mTOR mutation in clonally expanded T lymphocytes associated with chronic graft versus host disease.Nature communications · 2020Article
- DNA damage, oxidative stress, and inflammation in children with celiac disease.Genetics and molecular biology · 2020Article
- Evaluation of angiotensin II type-1 receptor antibodies in primary aldosteronism and further considerations about their possible pathogenetic role.Journal of clinical hypertension (Greenwich, Conn.) · 2018Article
- Smoking under hypoxic conditions: a potent environmental risk factor for inflammatory and autoimmune diseases.Military Medical Research · 2018Review
- Mutations in RNA methylating enzymes in disease.Current opinion in chemical biology · 2017Review
- Hypothesis on a relationship between hyperaldosteronism, inflammation, somatic mutations, and autoimmunity.Journal of clinical hypertension (Greenwich, Conn.) · 2017Article
- Mitochondrial DNA heteroplasmy in human health and disease.Biomedical reports · 2016Article
- Mutational Strand Asymmetries in Cancer Genomes Reveal Mechanisms of DNA Damage and Repair.Cell · 2016Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMany aspects of autoimmune disease are not well understood, including the specificities of autoimmune targets, and patterns of co-morbidity and cross-heritability across diseases. Prior work has provided evidence that somatic mutation caused by gene conversion and deletion at segmentally duplicated loci is relevant to several diseases. Simple tandem repeat (STR) sequence is highly mutable, both somatically and in the germ-line, and somatic STR mutations are observed under inflammation.
resultsProtein-coding genes spanning STRs having markers of mutability, including germ-line variability, high total length, repeat count and/or repeat similarity, are evaluated in the context of autoimmunity. For the initiation of autoimmune disease, antigens whose autoantibodies are the first observed in a disease, termed primary autoantigens, are informative. Three primary autoantigens, thyroid peroxidase (TPO), phogrin (PTPRN2) and filaggrin (FLG), include STRs that are among the eleven longest STRs spanned by protein-coding genes. This association of primary autoantigens with long STR sequence is highly significant (p<3.0x10(-7)). Long STRs occur within twenty genes that are associated with sixteen common autoimmune diseases and atherosclerosis. The repeat within the TTC34 gene is an outlier in terms of length and a link with systemic lupus erythematosus is proposed.
conclusionsThe results support the hypothesis that many autoimmune diseases are triggered by immune responses to proteins whose DNA sequence mutates somatically in a coherent, consistent fashion. Other autoimmune diseases may be caused by coherent somatic mutations in immune cells. The coherent somatic mutation hypothesis has the potential to be a comprehensive explanation for the initiation of many autoimmune diseases.
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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.