COL1A1, encoding the type I collagen α1 chain, is a key member of the collagen family. Type I collagen is widely expressed in mammalian cells and tissues and plays crucial roles in maintaining the structural integrity of the extracellular matrix (ECM). The ECM is involved in various cellular processes such as cell adhesion, migration, and proliferation, and thus COL1A1 is important for normal tissue development and function [8].

COL1A1 is highly expressed in various cancers and is associated with cancer progression and prognosis. For example, in breast cancer, knockdown of COL1A1 inhibited metastasis independent of the epithelial-mesenchymal transition process, and increased COL1A1 levels were associated with poor survival, especially in ER+ patients, suggesting it as a new prognostic biomarker and potential therapeutic target [2]. In osteosarcoma, the circRNA hsa_circ_0020378 promotes tumor progression by regulating the miR-339-3p/COL1A1 axis [5]. Also, COL1A1-PDGFB fusion-associated fibrosarcomas of the uterine corpus are aggressive tumors with chemotherapy resistance and poor prognosis [3,6]. Additionally, COL1A1 rs1800012 polymorphism is associated with osteoporosis or fracture risk [4], and in brain lower grade glioma, COL1A1 expression is related to tumor immune infiltration [7]. Pathogenic variants in COL1A1 are involved in osteogenesis imperfecta and rarely, Ehlers-Danlos syndrome subtypes and related overlap disorders [1].

In conclusion, COL1A1 is essential for maintaining ECM structure and function. Studies, especially those related to its role in cancer, osteoporosis, and certain genetic disorders, highlight its significance in disease processes. The findings from these functional studies provide potential targets for treatment in various disease areas, emphasizing the importance of understanding COL1A1's functions through in-vivo and model-based research.

References:

1. Venable, Elise, Knight, Dacre R T, Thoreson, Emily K, Baudhuin, Linnea M. 2023. COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder. In American journal of medical genetics. Part C, Seminars in medical genetics, 193, 147-159. doi:10.1002/ajmg.c.32038. https://pubmed.ncbi.nlm.nih.gov/36896471/

2. Liu, Jing, Shen, Jia-Xin, Wu, Hua-Tao, Du, Cai-Wen, Zhang, Guo-Jun. . Collagen 1A1 (COL1A1) promotes metastasis of breast cancer and is a potential therapeutic target. In Discovery medicine, 25, 211-223. doi:. https://pubmed.ncbi.nlm.nih.gov/29906404/

3. Panwar, Vandana, Liu, Yu, Gwin, Katja, Chen, Hao. 2022. COL1A1-PDGFB Fusion Associated Fibrosarcoma of the Uterine Corpus: A Case Report and Literature Review. In International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists, 42, 143-146. doi:10.1097/PGP.0000000000000850. https://pubmed.ncbi.nlm.nih.gov/36729934/

4. Xu, Pengcheng, Wang, Yuzhong, Wu, Xing, Zhang, Zhisheng, Li, Ming. 2024. The COL1A1 rs1800012 polymorphism is associated with osteoporosis or fracture risk: a meta-analysis of 30 studies. In International journal of burns and trauma, 14, 148-159. doi:10.62347/KKAM3344. https://pubmed.ncbi.nlm.nih.gov/39850783/

5. Liu, Liang, Huang, Wenze. 2023. hsa_circ_0020378 regulating miR-339-3p/COL1A1 promotes osteosarcoma progression. In Cancer biology & therapy, 24, 2274120. doi:10.1080/15384047.2023.2274120. https://pubmed.ncbi.nlm.nih.gov/37978903/

6. Hogeboom, Adriana, Bárcena, Carmen, Parrilla-Rubio, Lucía, Gallego-Gutiérrez, Irene, Martínez-López, Mario. 2022. A Case of COL1A1-PDGFB Fusion Uterine Sarcoma. In International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists, 42, 147-150. doi:10.1097/PGP.0000000000000875. https://pubmed.ncbi.nlm.nih.gov/35551153/

7. Ren, Junyu, Da, Junlong, Hu, Narisu. 2022. Identification of COL1A1 associated with immune infiltration in brain lower grade glioma. In PloS one, 17, e0269533. doi:10.1371/journal.pone.0269533. https://pubmed.ncbi.nlm.nih.gov/35789341/

8. Xiang, Guangming, Huang, Lei, Zhang, Xiuling, Li, Kui, Liu, Zhiguo. 2022. Molecular Characteristics and Promoter Analysis of Porcine COL1A1. In Genes, 13, . doi:10.3390/genes13111971. https://pubmed.ncbi.nlm.nih.gov/36360208/