TY - JOUR
T1 - Human leukocyte antigens and Gaucher disease
AU - Vairo, Filippo
AU - Portela, Pâmela
AU - Salim, Patrícia H.
AU - Jobim, Mariana
AU - Netto, Cristina
AU - Dorneles, Alicia
AU - Mittlestadt, Suzana
AU - Jobim, Luiz Fernando
AU - Schwartz, Ida Vanessa D.
N1 - Funding Information:
This study was supported by grants from FIPE-HCPA, the Brazilian Coordination of Improvement of Higher Education Personnel (CAPES), Programa de Apoio a Núcleos de Excelência (PRONEX) of the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS).
PY - 2013/3
Y1 - 2013/3
N2 - Background: Gaucher disease (GD) is caused by the reduced activity of lysosomal enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in macrophages and a chronic stimulation of the immune system. GD is divided into 3 main types according to the presence or absence of neurological involvement and to its presentation (acute or chronic). Gaucher cells show an increase in their expression of HLA-DR antigens on their surface, and there is an increase in levels of antigen-presenting molecules. Over 100 diseases have already been associated to HLA antigens; however, this association has never been studied in GD. Objectives: To analyze the variability of HLA genes in a Southern Brazilian sample of GD patients, to compare it with controls, and to look for associations with clinical manifestations. Methodology: Thirty-one GD patients (24 mild, 4 moderate, and 3 severe) were included in the study. They were typed for HLA A, B, and DR and compared to 250 healthy controls. The clinical data were obtained from the review of medical records. Results/discussion: There was a significant difference in the frequency of B37 allele among patients when compared to controls (p=0.011, OR 13.28). An association was found between DR11 (p=0.008) and DR13 (p=0.011) alleles and the severity of the disease. DR11 allele seems to be associated to neurologic compromise, while DR13 seems to be associated to osteonecrosis. Conclusion: Our data suggest a possible association of HLA variants and GD. The HLA variants must be further studied, for they seem to be a phenotype-modifier factor for GD.
AB - Background: Gaucher disease (GD) is caused by the reduced activity of lysosomal enzyme glucocerebrosidase, which leads to the accumulation of glucocerebroside in macrophages and a chronic stimulation of the immune system. GD is divided into 3 main types according to the presence or absence of neurological involvement and to its presentation (acute or chronic). Gaucher cells show an increase in their expression of HLA-DR antigens on their surface, and there is an increase in levels of antigen-presenting molecules. Over 100 diseases have already been associated to HLA antigens; however, this association has never been studied in GD. Objectives: To analyze the variability of HLA genes in a Southern Brazilian sample of GD patients, to compare it with controls, and to look for associations with clinical manifestations. Methodology: Thirty-one GD patients (24 mild, 4 moderate, and 3 severe) were included in the study. They were typed for HLA A, B, and DR and compared to 250 healthy controls. The clinical data were obtained from the review of medical records. Results/discussion: There was a significant difference in the frequency of B37 allele among patients when compared to controls (p=0.011, OR 13.28). An association was found between DR11 (p=0.008) and DR13 (p=0.011) alleles and the severity of the disease. DR11 allele seems to be associated to neurologic compromise, while DR13 seems to be associated to osteonecrosis. Conclusion: Our data suggest a possible association of HLA variants and GD. The HLA variants must be further studied, for they seem to be a phenotype-modifier factor for GD.
KW - Gaucher disease
KW - HLA genes
KW - Immune system
KW - Phenotype-modifier factors
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U2 - 10.1016/j.bcmd.2012.10.008
DO - 10.1016/j.bcmd.2012.10.008
M3 - Article
C2 - 23158683
AN - SCOPUS:84873264306
SN - 1079-9796
VL - 50
SP - 202
EP - 205
JO - Blood Cells, Molecules, and Diseases
JF - Blood Cells, Molecules, and Diseases
IS - 3
ER -