ARMS2
ARMS2 ARMS2, also known as Age-Related Maculopathy Susceptibility 2, is a gene located on chromosome 10 that has been associated with age-related macular degeneration (AMD). This gene plays a crucial role in the development and progression of AMD, a leading cause of vision loss in older adults. Structure and Function The ARMS2 gene encodes a protein that is involved in the regulation of oxidative stress and inflammation in the retina. Variations in this gene have been linked to an increased risk of developing AMD, particularly the more severe forms of the disease. Genetic Variants Several genetic variants within the ARMS2 gene have been identified as risk factors for AMD. One of the most well-known variants is the rs10490924 polymorphism, which has been strongly associated with an elevated risk of developing AMD. Clinical Implications Understanding the role of ARMS2 in AMD has important clinical implications. Genetic testing for variants in this gene can help identify individuals who may be at higher risk for developing AMD and may benefit from early intervention and monitoring. Future Research Research into the function of ARMS2 and its role in AMD is ongoing. Further studies are needed to elucidate the precise mechanisms by which variations in this gene contribute to the development of the disease, with the ultimate goal of developing targeted therapies for AMD. References For more information on ARMS2 and its role in AMD, please refer to the following resources: - Age-Related Maculopathy Susceptibility 2 (ARMS2) Gene - Age-Related Macular Degeneration
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Contributors: Prab R. Tumpati, MD