ABCB1 gene

Investigation of ABCB1 gene polymorphism with colchicine response in Behçet’s disease

H. Saricaoglu, Yilmaz, M., Karkucak, M., Ozturk, H. Z. Y., Yakut, T., Gulten, T., Baskan, E. B., Aydogan, K., and Dilek, K., Investigation of ABCB1 gene polymorphism with colchicine response in Behçet’s disease, vol. 10, pp. 1-6, 2011.

Colchicine is commonly used in the treatment of Behçet’s disease. However, some patients are unresponsive to colchicine treatment. Adenosine triphosphate-binding cassette subfamily B member 1 (ABCB1) transports colchicine out of cells. We investigated a possible association of C3435T polymorphism of the ABCB1 (MDR1) gene with colchicine response in patients with Behçet’s disease. We randomly selected 97 patients with Behçet’s disease, examined ABCB1 (MDR1) gene C3435T polymorphisms, and evaluated patient responses to colchicine.

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population

L. Dong, Mao, M., Luo, R., Tong, Y., and Yu, D., Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population, vol. 10, pp. 2569-2577, 2011.

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmacoresistance phenotypes in epilepsy patients.

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