Academic Journal
Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins
| العنوان: | Bioinformatic analysis identifies the immunological profile of turner syndrome with different X chromosome origins |
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| المؤلفون: | Qi, Xiao, Wang, Qinghua, Yu, Mingdong, Kong, Yujia, Shi, Fuyan, Wang, Suzhen |
| المساهمون: | National Natural Science Foundation of China, Natural Science Foundation of Shandong Province |
| المصدر: | Frontiers in Endocrinology ; volume 14 ; ISSN 1664-2392 |
| بيانات النشر: | Frontiers Media SA |
| سنة النشر: | 2023 |
| المجموعة: | Frontiers (Publisher - via CrossRef) |
| الوصف: | Introduction Turner syndrome (TS) is a chromosomal disorder that affects phenotypic females who have one intact X chromosome and complete or partial absence of the second sex chromosome in association with one or more clinical manifestations. However, the immunological profile of TS with different X chromosome origins is incompletely understood. Methods In this study, transcriptomic expression profiles of 26 TS (45,X) samples and 10 normal karyotype (46,XX) samples derived from GSE46687 cohort were employed. Differentially expressed immune-related genes (DEIRGs) between monosomy X TS patients with different X chromosome origins and normal females were investigated respectively. Subsequently, functional annotation, protein-protein interaction (PPI) network analysis, immunocyte infiltration evaluation, tissue-specific gene expression and Weighted gene co expression network analysis (WGCNA) were performed to explore the immunological characteristic in TS with different X chromosome origins. Results 34 and 52 DEIRGs were respectively identified in 45,Xm and 45,Xp patients compared with normal individuals. The identified DEIRGs in Xm group were significantly enriched in pathways associated with cancer. In Xp TS patients, the most enriched signals were immune response-related. A majority of genes involved in the above pathways were downregulated. PPI analysis identified 4 ( FLT3, IL3RA, CSF2RA, PIK3R3 ) and 6 ( PDGFRB , CSF2 , IL5 , PRL , CCL17 and IL2 )hub genes for Xm and Xp groups, respectively. CIBERSORT results showed that the proportion of Tregs in the Xm group and the naive B cells and resting NK cells in the Xp group significantly increased, respectively. Tissue-specific expression results indicated that BDCA4+_dentritic cells and CD19+ B cells were the prominent specific expressed tissues in Xp patients. Results of WGCNA support the above analysis. Conclusions This study aims at studying the immunological characteristics of TS with different X chromosome origins. Pathways in cancer in Xm group and immune ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| DOI: | 10.3389/fendo.2023.1024244 |
| DOI: | 10.3389/fendo.2023.1024244/full |
| الاتاحة: | http://dx.doi.org/10.3389/fendo.2023.1024244 https://www.frontiersin.org/articles/10.3389/fendo.2023.1024244/full |
| Rights: | https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.D89FF5FB |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fendo.2023.1024244 |
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