Cav1, encoding caveolin-1, is a major protein of plasma membrane microdomains called caveolae [5]. It is involved in several signaling pathways, such as the PI3K-Akt, MAPK, and ErbB signal pathways [3]. Caveolin-1 also participates in the regulation of cell senescence, and is located at the adipocyte lipid droplet [5,6]. Genetic models are valuable for studying Cav1's role in various biological processes and diseases.

CAV1 polymorphisms like rs1049334, rs1049337, rs7804372 may be potential risk factors in urinary cancer, with rs1049334 increasing the risk and rs1049337 and rs7804372 potentially acting as protectors [1]. In breast cancer, rs3807987 and rs7804372 polymorphisms are associated with risk changes [2]. CAV1 is up-regulated in prostate cancer and its high expression is related to poor prognosis [3]. In esophageal cancer, its down-regulation is associated with higher tumor mutation burden and better response to immunotherapy [7]. In chronic allograft dysfunction, CAV1 promotes epithelial-to-mesenchymal transition and chronic renal allograft interstitial fibrosis through the ferroptosis pathway [4]. Biallelic CAV1 null variants lead to congenital generalized lipodystrophy with achalasia [5]. Celastrol can down-regulate CAV1 to attenuate the pro-tumorigenic effects of senescent cells [6]. In atrial fibrillation, CAV1 is critical for MG53 regulation of TGF-β1 signaling pathway-induced atrial fibrosis [8]. CAV1 is a prognostic predictor for patients with idiopathic pulmonary fibrosis and lung cancer [9].

In conclusion, Cav1 is crucial in multiple biological processes and diseases. Studies on Cav1 using gene-based models have revealed its significant roles in cancer, lipodystrophy, chronic allograft dysfunction, and other conditions, providing insights into disease mechanisms and potential therapeutic targets.

References:

1. Fan, Song, Meng, Jialin, Zhang, Li, Zhang, Xiansheng, Liang, Chaozhao. 2018. CAV1 polymorphisms rs1049334, rs1049337, rs7804372 might be the potential risk in tumorigenicity of urinary cancer: A systematic review and meta-analysis. In Pathology, research and practice, 215, 151-158. doi:10.1016/j.prp.2018.11.009. https://pubmed.ncbi.nlm.nih.gov/30463805/

2. Yan, Cunye, Sun, Chenyu, Ding, Xiuxiu, Chen, Ying, Wang, Benzhong. 2019. Association of CAV1 polymorphisms with the risks of breast cancer: A systematic review and meta-analysis. In Pathology, research and practice, 215, 152518. doi:10.1016/j.prp.2019.152518. https://pubmed.ncbi.nlm.nih.gov/31303379/

3. Guo, Liuxiong, Liu, Yixuan, Yang, Tao, Liu, Bin, Cai, Jianhui. . CAV1 and KRT5 are potential targets for prostate cancer. In Medicine, 102, e36473. doi:10.1097/MD.0000000000036473. https://pubmed.ncbi.nlm.nih.gov/38065913/

4. Han, Qianguang, Ni, Bin, Bao, Wei, Ju, Xiaobing, Tan, Ruoyun. 2025. CAV1 promotes epithelial-to-mesenchymal transition (EMT) and chronic renal allograft interstitial fibrosis by activating the ferroptosis pathway. In Frontiers in immunology, 16, 1523855. doi:10.3389/fimmu.2025.1523855. https://pubmed.ncbi.nlm.nih.gov/40013149/

5. Karhan, Asuman Nur, Zammouri, Jamila, Auclair, Martine, Jéru, Isabelle, Vigouroux, Corinne. 2021. Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia. In European journal of endocrinology, 185, 841-854. doi:10.1530/EJE-21-0915. https://pubmed.ncbi.nlm.nih.gov/34643546/

6. Zhang, Shuo, Zhu, Neng, Shi, Ya-Ning, Li, Hong-Fang, Qin, Li. 2024. Celastrol mediates CAV1 to attenuate pro-tumorigenic effects of senescent cells. In Phytomedicine : international journal of phytotherapy and phytopharmacology, 129, 155614. doi:10.1016/j.phymed.2024.155614. https://pubmed.ncbi.nlm.nih.gov/38692078/

7. Zhang, Runan, Wang, Haizhou, Xiao, Jun, Huang, Tizheng, Zhao, Qiu. 2022. CAV1 Impacts the Tumor Immune Microenvironment and Has Potential Value of Predicting Response to Immunotherapy in Esophageal Cancer. In DNA and cell biology, 42, 27-42. doi:10.1089/dna.2022.0025. https://pubmed.ncbi.nlm.nih.gov/36638349/

8. Zhang, Meixia, Wang, Hechuan, Wang, Xiaowen, Lu, Kai, Xiao, Hua. 2020. MG53/CAV1 regulates transforming growth factor-β1 signaling-induced atrial fibrosis in atrial fibrillation. In Cell cycle (Georgetown, Tex.), 19, 2734-2744. doi:10.1080/15384101.2020.1827183. https://pubmed.ncbi.nlm.nih.gov/33000676/

9. Yin, Dongdong, Qiu, Jiayang, Hu, Suxia, Wang, Shun, Lu, Jun. . CAV1 is a prognostic predictor for patients with idiopathic pulmonary fibrosis and lung cancer. In Journal of biosciences, 47, . doi:. https://pubmed.ncbi.nlm.nih.gov/35092415/