title: Genetic Predictors of Response to Different Medical Therapies in Acromegaly.
abstract: In the era of predictive medicine, management of diseases is evolving into a more personal and individualized approach, as more data are available regarding clinical, biochemical, radiological, molecular, histopathological, and genetic aspects. In the particular setting of acromegaly, which is a rare, chronic, debilitating, and disfiguring disease, an optimized approach deems even more necessary, especially because of an associated increased morbidity and mortality, the impact on patients' quality of life, and the increased cost of frequently necessary life-long treatments. In this paper, we review the available studies that address potential genetic influences on acromegaly, their role in the outcome, and response to treatments, as well as their contribution to the risk of developing side effects. We focus mainly on pharmacogenetic factors involved during treatment with dopamine agonists, somatostatin analogs, and pegvisomant. Specifically, mutations in dopamine receptors, somatostatin receptors, growth hormone receptors, and metabolic pathways involved in growth hormone action; polymorphisms in the insulin-like growth factor and the insulin-like growth factor binding proteins; and polymorphisms in other genes that may determine differences in the frequency of developing adverse events.
authors.affiliation: Department of Endocrinology and Nutrition, Hospital Universitario la Princesa, Instituto de Investigación Princesa, Universidad Autónoma de Madrid, Madrid, Spain.
authors.forename: Ana M
authors.initials: AM
authors.lastname: Ramos-Leví
authors.affiliation: Department of Endocrinology and Nutrition, Complejo Hospitalario Universitario de Santiago de Compostela, Servicio Gallego de Salud (SERGAS); Universidad de Santiago de Compostela, La Coruña, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Bernabeu
authors.affiliation: Department of Endocrinology and Nutrition, Hospital Universitario la Princesa, Instituto de Investigación Princesa, Universidad Autónoma de Madrid, Madrid, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Sampedro-Núñez
authors.affiliation: Department of Endocrinology and Nutrition, Hospital Universitario la Princesa, Instituto de Investigación Princesa, Universidad Autónoma de Madrid, Madrid, Spain. Electronic address: monica.marazuela@salud.madrid.org.
authors.forename: Mónica
authors.initials: M
authors.lastname: Marazuela
mesh_terms: D000172:Acromegaly / Q000188:drug therapy* / Q000235:genetics; D018491:Dopamine Agonists / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D019382:Human Growth Hormone / Q000031:analogs & derivatives / Q000627:therapeutic use; D006801:Humans; D013004:Somatostatin / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D018491:Dopamine Agonists; D019382:Human Growth Hormone; D013004:Somatostatin; C406545:pegvisomant
keywords: acromegaly; genetic factors; medical treatment; pegvisomant; somatostatin analogs