Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset
Single nucleotide polymorphisms (SNP) in various genes have been described to be associated with susceptibility to autoimmune disease. In this study, myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) patients and controls were genotyped for five immune gene SNPs in tyrosine phosphatase non...
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Frontiers Media S.A.
2020-04-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2020.00578/full |
| _version_ | 1819067520363003904 |
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| author | Sophie Steiner Sonya C. Becker Jelka Hartwig Franziska Sotzny Sebastian Lorenz Sandra Bauer Madlen Löbel Anna B. Stittrich Anna B. Stittrich Patricia Grabowski Carmen Scheibenbogen Carmen Scheibenbogen |
| author_facet | Sophie Steiner Sonya C. Becker Jelka Hartwig Franziska Sotzny Sebastian Lorenz Sandra Bauer Madlen Löbel Anna B. Stittrich Anna B. Stittrich Patricia Grabowski Carmen Scheibenbogen Carmen Scheibenbogen |
| author_sort | Sophie Steiner |
| collection | DOAJ |
| description | Single nucleotide polymorphisms (SNP) in various genes have been described to be associated with susceptibility to autoimmune disease. In this study, myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) patients and controls were genotyped for five immune gene SNPs in tyrosine phosphatase non-receptor type 22 (PTPN22, rs2476601), cytotoxic T-lymphocyte-associated protein 4 (CTLA4, rs3087243), tumor necrosis factor (TNF, rs1800629 and rs1799724), and interferon regulatory factor 5 (IRF5, rs3807306), which are among the most important risk variants for autoimmune diseases. Analysis of 305 ME/CFS patients and 201 healthy controls showed significant associations of the PTPN22 rs2476601 and CTLA4 rs3087243 autoimmunity-risk alleles with ME/CFS. The associations were only found in ME/CFS patients, who reported an acute onset of disease with an infection (PTPN22 rs2476601: OR 1.63, CI 1.04–2.55, p = 0.016; CTLA4 rs3087243: OR 1.53, CI 1.17–2.03, p = 0.001), but not in ME/CFS patients without infection-triggered onset (PTPN22 rs2476601: OR 1.09, CI 0.56–2.14, p = 0.398; CTLA4 rs3087243: OR 0.89, CI 0.61–1.30, p = 0.268). This finding provides evidence that autoimmunity might play a role in ME/CFS with an infection-triggered onset. Both genes play a key role in regulating B and T cell activation. |
| first_indexed | 2024-12-21T16:19:33Z |
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| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-21T16:19:33Z |
| publishDate | 2020-04-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Immunology |
| spelling | doaj.art-efa33206a56547d091215c49a00600752022-12-21T18:57:36ZengFrontiers Media S.A.Frontiers in Immunology1664-32242020-04-011110.3389/fimmu.2020.00578504233Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious OnsetSophie Steiner0Sonya C. Becker1Jelka Hartwig2Franziska Sotzny3Sebastian Lorenz4Sandra Bauer5Madlen Löbel6Anna B. Stittrich7Anna B. Stittrich8Patricia Grabowski9Carmen Scheibenbogen10Carmen Scheibenbogen11Institute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyCarl-Thiem-Klinikum Cottbus gGmbH, Research Center, Cottbus, GermanyBIH Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, GermanyLabor Berlin—Charité Vivantes GmbH, Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyInstitute of Medical Immunology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität (FU) Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, GermanyBIH Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, GermanySingle nucleotide polymorphisms (SNP) in various genes have been described to be associated with susceptibility to autoimmune disease. In this study, myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) patients and controls were genotyped for five immune gene SNPs in tyrosine phosphatase non-receptor type 22 (PTPN22, rs2476601), cytotoxic T-lymphocyte-associated protein 4 (CTLA4, rs3087243), tumor necrosis factor (TNF, rs1800629 and rs1799724), and interferon regulatory factor 5 (IRF5, rs3807306), which are among the most important risk variants for autoimmune diseases. Analysis of 305 ME/CFS patients and 201 healthy controls showed significant associations of the PTPN22 rs2476601 and CTLA4 rs3087243 autoimmunity-risk alleles with ME/CFS. The associations were only found in ME/CFS patients, who reported an acute onset of disease with an infection (PTPN22 rs2476601: OR 1.63, CI 1.04–2.55, p = 0.016; CTLA4 rs3087243: OR 1.53, CI 1.17–2.03, p = 0.001), but not in ME/CFS patients without infection-triggered onset (PTPN22 rs2476601: OR 1.09, CI 0.56–2.14, p = 0.398; CTLA4 rs3087243: OR 0.89, CI 0.61–1.30, p = 0.268). This finding provides evidence that autoimmunity might play a role in ME/CFS with an infection-triggered onset. Both genes play a key role in regulating B and T cell activation.https://www.frontiersin.org/article/10.3389/fimmu.2020.00578/fullsingle nucleotide polymorphism (SNP)tyrosine phosphatase non-receptor type 22 (PTPN22)cytotoxic T-lymphocyte-associated protein 4 (CTLA4)interferon regulatory factor 5 (IRF5)tumor necrosis factor (TNF)myalgic encephalomyelitis (ME) |
| spellingShingle | Sophie Steiner Sonya C. Becker Jelka Hartwig Franziska Sotzny Sebastian Lorenz Sandra Bauer Madlen Löbel Anna B. Stittrich Anna B. Stittrich Patricia Grabowski Carmen Scheibenbogen Carmen Scheibenbogen Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset Frontiers in Immunology single nucleotide polymorphism (SNP) tyrosine phosphatase non-receptor type 22 (PTPN22) cytotoxic T-lymphocyte-associated protein 4 (CTLA4) interferon regulatory factor 5 (IRF5) tumor necrosis factor (TNF) myalgic encephalomyelitis (ME) |
| title | Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset |
| title_full | Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset |
| title_fullStr | Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset |
| title_full_unstemmed | Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset |
| title_short | Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset |
| title_sort | autoimmunity related risk variants in ptpn22 and ctla4 are associated with me cfs with infectious onset |
| topic | single nucleotide polymorphism (SNP) tyrosine phosphatase non-receptor type 22 (PTPN22) cytotoxic T-lymphocyte-associated protein 4 (CTLA4) interferon regulatory factor 5 (IRF5) tumor necrosis factor (TNF) myalgic encephalomyelitis (ME) |
| url | https://www.frontiersin.org/article/10.3389/fimmu.2020.00578/full |
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