Kl, also known as Klotho, is an anti-ageing gene that has been closely associated with multiple biological processes and diseases. It plays important roles in metabolic regulation and may be involved in various signaling pathways. Genetic models, such as studying its single nucleotide polymorphisms (SNPs), can help understand its functions [1].

The KL genetic polymorphisms are significantly associated with Type 2 Diabetes Mellitus (T2DM). In an Asian cohort, 12 out of 20 KL SNPs were found to be related to T2DM in both additive and dominant models, indicating an increased susceptibility to T2DM [1]. The KL-FGF23-VD axis, related to the Kl gene, can alleviate the inflammatory response, reduce Aβ deposition, inhibit the activation of the NF-κB pathway and neuron apoptosis in the brain tissue of late-onset Alzheimer's disease (LOAD) rats. In Aβ microglia, it can also inhibit the expression of inflammatory factors and the activation of microglia and the NF-κB pathway [2]. In clear cell renal cell carcinoma (ccRCC), KL is an independent prognostic factor. Its down-regulation in ccRCC tissues is negatively associated with T stage, M stage, pathological stage, and histologic grade, indicating disease deterioration and a shortened overall survival period [3].

In conclusion, Kl is a crucial gene involved in multiple biological processes and diseases. Studies on its genetic polymorphisms and related axes in models like LOAD rats and in diseases such as T2DM and ccRCC have revealed its significance in disease development and prognosis. These findings provide a better understanding of the biological functions of Kl and potential directions for disease treatment and prevention.

References:

1. Jin, Hyun-Seok, Jung, Dongju. 2022. The KL genetic polymorphisms Associated with type 2 diabetes Mellitus. In Indian journal of clinical biochemistry : IJCB, 38, 385-392. doi:10.1007/s12291-022-01057-5. https://pubmed.ncbi.nlm.nih.gov/37234182/

2. Cai, Yingying, Hu, Jiali, He, Mingjie. 2022. KL-FGF23-VD Axis in Improving Late-Onset Alzheimer's Disease by Modulating IKK/NF-κB Signal Pathway. In Evidence-based complementary and alternative medicine : eCAM, 2022, 3100621. doi:10.1155/2022/3100621. https://pubmed.ncbi.nlm.nih.gov/36118087/

3. Pan, Ke-Hao, Yao, Liqing, Chen, Zhihao, Zhang, Jianglei, Ling, Zhixin. 2023. KL is a favorable prognostic factor related immune for clear cell renal cell carcinoma. In European journal of medical research, 28, 356. doi:10.1186/s40001-023-01242-z. https://pubmed.ncbi.nlm.nih.gov/37726833/