Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis.
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Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis. / Viken, Marte K; Sollid, Hege Dahlen; Joner, Geir; Dahl-Jørgensen, Knut; Rønningen, Kjersti S; Undlien, Dag E; Flatø, Berit; Selvaag, Anne M; Førre, Øystein; Kvien, Tore K; Thorsby, Erik; Melms, Arthur; Tolosa, Eva; Lie, Benedicte A.
in: HUM IMMUNOL, Jahrgang 68, Nr. 9, 9, 2007, S. 748-755.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis.
AU - Viken, Marte K
AU - Sollid, Hege Dahlen
AU - Joner, Geir
AU - Dahl-Jørgensen, Knut
AU - Rønningen, Kjersti S
AU - Undlien, Dag E
AU - Flatø, Berit
AU - Selvaag, Anne M
AU - Førre, Øystein
AU - Kvien, Tore K
AU - Thorsby, Erik
AU - Melms, Arthur
AU - Tolosa, Eva
AU - Lie, Benedicte A
PY - 2007
Y1 - 2007
N2 - 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 T1D families, and subsequently in 861 rheumatoid arthritis patients, 530 juvenile idiopathic arthritis patients, and 559 controls of Norwegian origin. Additionally, DNA from 83 German myasthenia gravis (MG) patients and 244 controls were investigated. A polymorphism, rs16919034, situated downstream of CTSL2 was associated with T1D (60.8%T, p = 0.008; p(c) = 0.03). An association with early-onset MG (45% in cases vs 36.6% in controls; p = 0.03) was observed for another polymorphism (rs4361859) situated upstream of the gene, but within the same linkage disequilibrium block. No association was observed in rheumatoid arthritis or juvenile idiopathic arthritis. Our findings suggest that the CTSL2 gene is associated with T1D and with early-onset MG.
AB - 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 T1D families, and subsequently in 861 rheumatoid arthritis patients, 530 juvenile idiopathic arthritis patients, and 559 controls of Norwegian origin. Additionally, DNA from 83 German myasthenia gravis (MG) patients and 244 controls were investigated. A polymorphism, rs16919034, situated downstream of CTSL2 was associated with T1D (60.8%T, p = 0.008; p(c) = 0.03). An association with early-onset MG (45% in cases vs 36.6% in controls; p = 0.03) was observed for another polymorphism (rs4361859) situated upstream of the gene, but within the same linkage disequilibrium block. No association was observed in rheumatoid arthritis or juvenile idiopathic arthritis. Our findings suggest that the CTSL2 gene is associated with T1D and with early-onset MG.
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Infant
KW - Age of Onset
KW - Linkage Disequilibrium
KW - Genetic Predisposition to Disease
KW - Polymorphism, Single Nucleotide
KW - Diabetes Mellitus, Type 1/genetics
KW - Cathepsin L
KW - Cathepsins/genetics
KW - Cysteine Endopeptidases/genetics
KW - Myasthenia Gravis/epidemiology/genetics
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Infant
KW - Age of Onset
KW - Linkage Disequilibrium
KW - Genetic Predisposition to Disease
KW - Polymorphism, Single Nucleotide
KW - Diabetes Mellitus, Type 1/genetics
KW - Cathepsin L
KW - Cathepsins/genetics
KW - Cysteine Endopeptidases/genetics
KW - Myasthenia Gravis/epidemiology/genetics
M3 - SCORING: Journal article
VL - 68
SP - 748
EP - 755
JO - HUM IMMUNOL
JF - HUM IMMUNOL
SN - 0198-8859
IS - 9
M1 - 9
ER -
