ArticleJournal of clinical laboratory analysis2022
Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Prognostic relevance of PRSS2 and its immune correlates in papillary thyroid carcinoma.Open medicine (Warsaw, Poland) · 2025Article
- Whole Exome Sequencing of Adult Indians with Apparently Acquired Aplastic Anaemia: Initial Experience at Tertiary Care Hospital.Diseases (Basel, Switzerland) · 2024Article
- Identification of potential pathogenic genes for severe aplastic anemia by whole-exome sequencing.Journal of clinical laboratory analysis · 2022Article
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8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundSevere aplastic anemia (SAA) is a syndrome of severe bone marrow failure due to hyperfunction of CD8+ T cells. While, the genetic background of SAA is still unknown. In this study, we tried to explore the possible genetic variants in CD8+ T cells of SAA patients.
methodsWe performed whole-exome sequencing (WES) in CD8+ T cells of 4 SAA patients and 7 normal controls. The mutations that existed in SAA but not in NCs were identified as candidate genes. Then, we compared them with genes in the enriched KEGG pathway of differently expressed genes (DEGs) from previous RNA-seq. After analyzing the types of mutations, we identified possible pathogenic genes and validated them by RT-PCR. Finally, we compared them with the autoimmune disease-related genes in DisGeNET database to select the most possible pathogenic genes.
resultsWe found 95 candidate mutant genes in which, 4 possible pathogenic genes were identified: PRSS1, KCNJ18, PRSS2, and DGKK. RT-PCR results showed that compared with NCs, PRSS1 and KCNJ18 mRNA expression was significantly increased in SAA patients (p < 0.05), PRSS2 was also increased in SAA patients but without statistical difference, and DGKK gene could not be detected by RT-PCR in SAA patients. In addition, PRSS1 was associated with autoimmune diseases from the DisGeNET database.
conclusionThe mutations of PRSS1, KCNJ18, PRSS2, and DGKK, especially PRSS1 in CD8+T cells, may be involved in the immune pathogenesis of SAA.
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