Article ; Online: Whole exome sequencing of a German sarcoidosis family with four affected and one spontaneous remission case.
Rheumatology (Oxford, England)
2023
Abstract: Objectives: To analyze genetic mechanisms triggering familial sarcoidosis, whole exome screening of a family of six persons with four cases of sarcoidosis and two healthy controls was performed integrating progressive and spontaneous remission cases and ...
| Abstract | Objectives: To analyze genetic mechanisms triggering familial sarcoidosis, whole exome screening of a family of six persons with four cases of sarcoidosis and two healthy controls was performed integrating progressive and spontaneous remission cases and evaluating involved genetic alterations that could potentially determine the individual course of the disease. Methods: Clinical diagnosis criteria in patients of the selected sarcoidosis family were according to American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous Disorders guidelines [1]. Exome screening of four patients and the two intrafamilial healthy relatives was performed by a paired-end (2 × 100 bp) sequencing using a NovaSeq 6000 (Illumina, San Diego, CA). We then selected the gene variants considered pathogenic on the basis of a series of prediction software and present only in subjects affected by sarcoidosis of the family, after subtracting the common variations observed in healthy subjects. Results: Four persons out of six family members were affected by sarcoidosis. 50 genes with uncommon in silico pathogenic variants could be identified that differentiated affected and healthy family members. One patient with sarcoidosis showed spontaneous remission whereas the remaining three patients required immunosuppressive treatment. Subtraction analysis revealed 18 genes that distinguished the three progressive cases from the patient with spontaneous remission. Conclusion: The genetic analysis of these cases with familial sarcoidosis identified several involved genes and functional pathways that could help to understand the basic mechanisms that determine the development of the disease and that discriminate spontaneously regressive and progressive forms. |
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| Language | English |
| Publishing date | 2023-07-21 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 1464822-2 |
| ISSN | 1462-0332 ; 1462-0324 |
| ISSN (online) | 1462-0332 |
| ISSN | 1462-0324 |
| DOI | 10.1093/rheumatology/kead349 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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