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Integrative Transcriptomic Analysis and Preliminary Peripheral Blood Evaluation Identify ASAP2 as an Exploratory
Cheng Luo1, Chengzheng Duan1, Shiyu Xu1
1Department of Endocrinology and Metabolism, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People's Hospital, Quzhou, Zhejiang, 324000, People's Republic of China.
International Journal of General Medicine
|August 8, 2026
Summary
ASAP2 is downregulated in Complete Androgen Insensitivity Syndrome (CAIS), a rare 46,XY disorder/difference of sex development. This suggests ASAP2 may be a potential marker for androgen pathway disruption.
Area of Science:
- Genetics and Molecular Biology
- Endocrinology
- Developmental Biology
Background:
- Complete androgen insensitivity syndrome (CAIS) is a rare 46,XY disorder/difference of sex development (DSD) stemming from impaired androgen receptor (AR) function.
- While AR sequencing is key for diagnosis, the downstream transcriptional effects of AR dysfunction and accessible markers for androgen pathway disruption remain unclear.
Purpose of the Study:
- To identify downstream transcriptional consequences of AR dysfunction in CAIS.
- To explore potential accessible readouts of androgen-pathway disruption.
Main Methods:
- Analysis of two CAIS RNA-seq datasets (GSE125222, GSE300211) using differential expression analysis, WGCNA, LASSO, random forest, and SVM-RFE.
- Validation of ASAP2 expression in peripheral blood mononuclear cells (PBMCs) from an independent cohort via RT-qPCR and Western blotting.
- Exploration of associated pathways and immune features using GSEA and CIBERSORTx.
Main Results:
- ASAP2 was consistently downregulated in CAIS testicular tissue and patient-derived fibroblasts.
- Reduced ASAP2 mRNA and protein levels were observed in PBMCs from CAIS patients.
- ASAP2-associated genes were enriched in pathways involved in cytoskeletal remodeling and immune signaling, with altered immune-cell composition suggested in CAIS.
Conclusions:
- ASAP2 is an exploratory candidate associated with CAIS and shows preliminary peripheral detectability.
- Further research is needed to confirm ASAP2's role in downstream molecular networks of AR deficiency and its potential as a surrogate marker for androgen-pathway disruption.
- Larger studies with relevant comparators and functional analyses are required to establish ASAP2's clinical utility.