Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study
BackgroundThe mechanisms of Meniere's disease (MD) remain largely unknown. The purpose of this study was to identify possible genetic variants associated with immune regulation in MD.MethodsThe whole immune genome of 16 Chinese patients diagnosed with sporadic MD was sequenced using next-genera...
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Frontiers Media S.A.
2023-05-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1159658/full |
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| author | Jing Zou Jing Zou Guoping Zhang Hongbin Li Zikai Zhao Qing Zhang Ilmari Pyykkö Antti Mäkitie |
| author_facet | Jing Zou Jing Zou Guoping Zhang Hongbin Li Zikai Zhao Qing Zhang Ilmari Pyykkö Antti Mäkitie |
| author_sort | Jing Zou |
| collection | DOAJ |
| description | BackgroundThe mechanisms of Meniere's disease (MD) remain largely unknown. The purpose of this study was to identify possible genetic variants associated with immune regulation in MD.MethodsThe whole immune genome of 16 Chinese patients diagnosed with sporadic MD was sequenced using next-generation sequencing.ResultsDefinite pathological variants of MEFV (c.1223G>A, c.1105C>T), COL7A1 (c.5287C>T), and ADA (c.445C>T) contributing to the clinical phenotype were found in three patients. Limited and likely pathological variants of TLR3 (c.2228G>A) and RAB27A (c.560G>A) were detected in one patient each. The following definite pathological variants impairing the structure and function of translated proteins were detected in 10 patients, and multigene variants occurred in five patients: PRF1 (c.710C>A), UNC13D (c.1228A>C), COLEC11 (c.169C>T), RAG2 (c.200G>C), BLM (c.1937G>T), RNF31 (c.2533G>A), FAT4 (c.11498A>G), PEPD (c.788A>G), TNFSF12 (c.470G>A), VPS13B (c.11972A>T), TNFRSF13B (c.226G>A), ERCC6L2 (c.4613A>G), TLR3 (c.2228G>A), ADA (c.445C>T), PEPD (c.151G>A), and MOGS (c.2470G>A). The following limited pathological variants impairing the structure and function of translated proteins were detected in five patients, with double gene variants identified in one patient: EXTL3 (c.1396G>A), MTHFD1 (c.2057G>A), FANCA (c.2039T>C), LPIN2 (c.1814C>T), NBAS (c.4049T>C), and FCN3 (c.734G>A).ConclusionPatients with sporadic MD carry multiple genetic variants involved in multiple steps of immune regulation, which might render patients susceptible to developing inflammation via both autoimmune and autoinflammation mechanisms upon internal stress. |
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| institution | Directory Open Access Journal |
| issn | 1664-2295 |
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| last_indexed | 2024-03-13T10:33:50Z |
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| spelling | doaj.art-34b26c7200e3401389d7e8353be0b3832023-05-18T07:37:59ZengFrontiers Media S.A.Frontiers in Neurology1664-22952023-05-011410.3389/fneur.2023.11596581159658Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary studyJing Zou0Jing Zou1Guoping Zhang2Hongbin Li3Zikai Zhao4Qing Zhang5Ilmari Pyykkö6Antti Mäkitie7Department of Otolaryngology-Head and Neck Surgery, Changhai Hospital, Second Military Medical University, Shanghai, ChinaResearch Program in Systems Oncology, Department of Otorhinolaryngology-Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, FinlandDepartment of Otolaryngology-Head and Neck Surgery, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Changhai Hospital, Second Military Medical University, Shanghai, ChinaDepartment of Otolaryngology-Head and Neck Surgery, Changhai Hospital, Second Military Medical University, Shanghai, ChinaHearing and Balance Research Unit, Field of Otolaryngology, School of Medicine, Faculty of Medicine and Health Technology, Tampere University, Tampere, FinlandResearch Program in Systems Oncology, Department of Otorhinolaryngology-Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, FinlandBackgroundThe mechanisms of Meniere's disease (MD) remain largely unknown. The purpose of this study was to identify possible genetic variants associated with immune regulation in MD.MethodsThe whole immune genome of 16 Chinese patients diagnosed with sporadic MD was sequenced using next-generation sequencing.ResultsDefinite pathological variants of MEFV (c.1223G>A, c.1105C>T), COL7A1 (c.5287C>T), and ADA (c.445C>T) contributing to the clinical phenotype were found in three patients. Limited and likely pathological variants of TLR3 (c.2228G>A) and RAB27A (c.560G>A) were detected in one patient each. The following definite pathological variants impairing the structure and function of translated proteins were detected in 10 patients, and multigene variants occurred in five patients: PRF1 (c.710C>A), UNC13D (c.1228A>C), COLEC11 (c.169C>T), RAG2 (c.200G>C), BLM (c.1937G>T), RNF31 (c.2533G>A), FAT4 (c.11498A>G), PEPD (c.788A>G), TNFSF12 (c.470G>A), VPS13B (c.11972A>T), TNFRSF13B (c.226G>A), ERCC6L2 (c.4613A>G), TLR3 (c.2228G>A), ADA (c.445C>T), PEPD (c.151G>A), and MOGS (c.2470G>A). The following limited pathological variants impairing the structure and function of translated proteins were detected in five patients, with double gene variants identified in one patient: EXTL3 (c.1396G>A), MTHFD1 (c.2057G>A), FANCA (c.2039T>C), LPIN2 (c.1814C>T), NBAS (c.4049T>C), and FCN3 (c.734G>A).ConclusionPatients with sporadic MD carry multiple genetic variants involved in multiple steps of immune regulation, which might render patients susceptible to developing inflammation via both autoimmune and autoinflammation mechanisms upon internal stress.https://www.frontiersin.org/articles/10.3389/fneur.2023.1159658/fullMeniere's diseaseimmunologygeneticsmutationdiagnostics |
| spellingShingle | Jing Zou Jing Zou Guoping Zhang Hongbin Li Zikai Zhao Qing Zhang Ilmari Pyykkö Antti Mäkitie Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study Frontiers in Neurology Meniere's disease immunology genetics mutation diagnostics |
| title | Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study |
| title_full | Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study |
| title_fullStr | Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study |
| title_full_unstemmed | Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study |
| title_short | Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study |
| title_sort | multiple genetic variants involved in both autoimmunity and autoinflammation detected in chinese patients with sporadic meniere s disease a preliminary study |
| topic | Meniere's disease immunology genetics mutation diagnostics |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1159658/full |
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