Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis
MK Viken, HD Sollid, G Joner, K Dahl-Jørgensen… - Human immunology, 2007 - Elsevier
Type 1 diabetes (T1D) is an autoimmune disease characterized by loss of beta cells in the
pancreas. The CTSL2 gene encodes the cysteine protease cathepsin V involved in antigen
presentation in human cortical thymic epithelial cells, and involvement of the protease in
autoimmunity has been suggested. This study aimed to evaluate CTSL2 as a candidate
gene for T1D, and test whether the gene predisposes more generally to autoimmune
diseases. Four polymorphisms aiming at tagging the CTSL2 locus were genotyped in 421 …
pancreas. The CTSL2 gene encodes the cysteine protease cathepsin V involved in antigen
presentation in human cortical thymic epithelial cells, and involvement of the protease in
autoimmunity has been suggested. This study aimed to evaluate CTSL2 as a candidate
gene for T1D, and test whether the gene predisposes more generally to autoimmune
diseases. Four polymorphisms aiming at tagging the CTSL2 locus were genotyped in 421 …
