ArticleClinical rheumatology2021
Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.
Article in Clinical rheumatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Janus kinase inhibitors in pulmonary and extra-pulmonary sarcoidosis: A case series and a systematic review of the literature.Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG · 2025Article
- Neurosarcoidosis: a review from diagnosis and future perspectives.EClinicalMedicine · 2025Review
- Chronic Sarcoidosis: Diagnostic Difficulties and Search for New Criteria of Inflammatory Activity (A Case Report and Literature Review).Journal of clinical medicine · 2024Review
- [Analysis of 14 cases of sarcoidosis of head and neck].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Activation of the pentose phosphate pathway in macrophages is crucial for granuloma formation in sarcoidosis.The Journal of clinical investigation · 2023Article
- The Overlap of Kidney Failure in Extrapulmonary Sarcoidosis in Children-Case Report and Review of Literature.International journal of molecular sciences · 2023Review
- Genetics of neurosarcoidosis.Journal of neuroimmunology · 2022Review
- The Evolving Landscape of Cutaneous Sarcoidosis: Pathogenic Insight, Clinical Challenges, and New Frontiers in Therapy.American journal of clinical dermatology · 2022Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe studied genetic risk factors associated with sarcoidosis within a family with a high prevalence of this disease.
methodsWe studied 41 members of a family with a high rate of sarcoidosis, including an index patient with treatment-resistant neurosarcoidosis. Whole genome sequencing was performed for six affected family members and variations associated with loss of function were filtered out as candidate genes. Findings were validated by using amplicon sequencing within all 41 family members with DNA available and candidate genes were screened on absence and presence within the sarcoidosis affected and non-affected.
resultsFamily members (n = 61) from 5 generations were available for participation including 13 subjects diagnosed with sarcoidosis (20%). Analyses identified 36 candidate variants within 34 candidate genes. Variations within three of these genes (JAK2, BACH2, and NCF1) previously have been associated with autoimmune diseases.
conclusionsWe identified 34 genes with a possible role in the etiology of sarcoidosis, including JAK2. Our results may suggest evaluation of JAK inhibitors in treatment-resistant sarcoidosis. Key Points • JAK2 has a potential role in the etiology of sarcoidosis and is a potential therapeutic target. • We identified 33 additional candidate genes of which BACH2 and NCF1 have been previously associated with autoimmune disease.
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