Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is a heterogeneous multifactorial disease. Upregulated TLR7 signaling is a known risk factor for SLE. Recently, it was shown that specific genetic variants in <i>UNC93B1</i> affect the physiological regulation of TLR7 signaling and cause characteristic...
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MDPI AG
2021-08-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/8/1268 |
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| author | Sarah Kiener Camillo Ribi Irene Keller Carlo Chizzolini Marten Trendelenburg Uyen Huynh-Do Johannes von Kempis on behalf of Swiss SLE Cohort Study (SSCS) Tosso Leeb |
| author_facet | Sarah Kiener Camillo Ribi Irene Keller Carlo Chizzolini Marten Trendelenburg Uyen Huynh-Do Johannes von Kempis on behalf of Swiss SLE Cohort Study (SSCS) Tosso Leeb |
| author_sort | Sarah Kiener |
| collection | DOAJ |
| description | Systemic lupus erythematosus (SLE) is a heterogeneous multifactorial disease. Upregulated TLR7 signaling is a known risk factor for SLE. Recently, it was shown that specific genetic variants in <i>UNC93B1</i> affect the physiological regulation of TLR7 signaling and cause characteristic autoimmune phenotypes with monogenic autosomal recessive inheritance in mutant mice and dogs. We therefore hypothesized that homologous variants in the human <i>UNC93B1</i> gene might be responsible for a fraction of human SLE patients. We analyzed 536 patients of the Swiss SLE Cohort Study for the presence of genetic variants affecting the C-terminal tail of UNC93B1. None of the investigated patients carried bi-allelic <i>UNC93B1</i> variants that were likely to explain their SLE phenotypes. We conclude that genetic variants affecting the C-terminal tail of UNC93B1 are not a common risk factor for SLE. It cannot be excluded that such variants might contribute to other heritable autoimmune diseases. |
| first_indexed | 2024-03-10T08:47:19Z |
| format | Article |
| id | doaj.art-f40458597fb64310a55eabdd362087f8 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T08:47:19Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-f40458597fb64310a55eabdd362087f82023-11-22T07:46:57ZengMDPI AGGenes2073-44252021-08-01128126810.3390/genes12081268Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus ErythematosusSarah Kiener0Camillo Ribi1Irene Keller2Carlo Chizzolini3Marten Trendelenburg4Uyen Huynh-Do5Johannes von Kempis6on behalf of Swiss SLE Cohort Study (SSCS)Tosso Leeb7Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandDivision of Immunology and Allergy, Department of Medicine, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), 1011 Lausanne, SwitzerlandInterfaculty Bioinformatics Unit, University of Bern, 3012 Bern, SwitzerlandDepartment of Pathology and Immunology, School of Medicine, Geneva University, 1211 Geneva, SwitzerlandLaboratory for Clinical Immunology, Department of Biomedicine and Division of Internal Medicine, University Hospital of Basel, 4031 Basel, SwitzerlandDivision of Nephrology and Hypertension, Inselspital, Bern University Hospital, 3010 Bern, SwitzerlandDivision of Rheumatology, Cantonal Hospital St. Gallen, 9007 St. Gallen, SwitzerlandInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, SwitzerlandSystemic lupus erythematosus (SLE) is a heterogeneous multifactorial disease. Upregulated TLR7 signaling is a known risk factor for SLE. Recently, it was shown that specific genetic variants in <i>UNC93B1</i> affect the physiological regulation of TLR7 signaling and cause characteristic autoimmune phenotypes with monogenic autosomal recessive inheritance in mutant mice and dogs. We therefore hypothesized that homologous variants in the human <i>UNC93B1</i> gene might be responsible for a fraction of human SLE patients. We analyzed 536 patients of the Swiss SLE Cohort Study for the presence of genetic variants affecting the C-terminal tail of UNC93B1. None of the investigated patients carried bi-allelic <i>UNC93B1</i> variants that were likely to explain their SLE phenotypes. We conclude that genetic variants affecting the C-terminal tail of UNC93B1 are not a common risk factor for SLE. It cannot be excluded that such variants might contribute to other heritable autoimmune diseases.https://www.mdpi.com/2073-4425/12/8/1268<i>Homo sapiens</i>immunologyautoimmunitycandidate geneTLR7 signaling |
| spellingShingle | Sarah Kiener Camillo Ribi Irene Keller Carlo Chizzolini Marten Trendelenburg Uyen Huynh-Do Johannes von Kempis on behalf of Swiss SLE Cohort Study (SSCS) Tosso Leeb Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus Genes <i>Homo sapiens</i> immunology autoimmunity candidate gene TLR7 signaling |
| title | Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus |
| title_full | Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus |
| title_fullStr | Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus |
| title_full_unstemmed | Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus |
| title_short | Variants Affecting the C-Terminal Tail of UNC93B1 Are Not a Common Risk Factor for Systemic Lupus Erythematosus |
| title_sort | variants affecting the c terminal tail of unc93b1 are not a common risk factor for systemic lupus erythematosus |
| topic | <i>Homo sapiens</i> immunology autoimmunity candidate gene TLR7 signaling |
| url | https://www.mdpi.com/2073-4425/12/8/1268 |
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