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month download article/chapter mannose-binding lectin gene mannose-binding lectin engagement increased enterocyte apoptosis fas-fas ligand system mannose binding lectin mannose-binding lectin mannan-binding lectin secondary autoimmune diseases developing autoimmune diseases related subjects systemic lupus erythematosus celiac disease patients adult celiac disease privacy choices/manage cookies european genetics cluster full article pdf coeliac disease author information authors hla-dr3 haplotypes molecular medicine aims collaborative european search autoimmune diseases check access instant access innate immune defense single-tube genotyping human mbl deficiency mbl-2 gene expression melting temperature analysis genetic factors sergio crovella european economic area allelic specific pcr melting temperature assay post-translational modification matrix metalloproteinase proteolysis cd91 initiates macropinocytosis borrias-essers mc long-term fellowship tunel findings support conditions privacy policy dq8 celiac patients multifactorial disorder caused cell surface calreticulin author correspondence gene polymorphisms celiac disease genetically susceptible patients accepting optional cookies

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         headline:Evidence of a correlation between mannose binding lectin and celiac disease: a model for other autoimmune diseases
         description:Celiac disease is a multifactorial disorder caused, in genetically susceptible patients, by the ingestion of dietary gluten. Very little is known about the genetic factors, but there is a strong association of two HLA haplotypes (DQ2 or α1*05, β1*02 and DQ8 or α1*0301, β1*0302) with the disease. We investigated the relationship between polymorphisms in the first exon of the MBL2 gene, which encodes for mannose binding lectin (MBL) and celiac disease. Moreover we studied the MBL role by immunohistochemistry and TUNEL. Results were confirmed by clinical findings. We enrolled 149 Italian celiac patients; 116 were characterized by the presence of DQ2 or DQ8. The HLA haplotype was established by allelic specific PCR while the MBL2 genotype was resolved by melting temperature assay. Immunohistochemistry and TUNEL assays were performed on serial sections of biopsy specimens from celiac patients and healthy controls. MBL2 allele and genotype frequencies varied significantly between celiac patients and healthy controls. The frequencies of the 0 allele were 28% in DQ2 or DQ8 celiac patients, 36% in HLA atypical celiac patients, and 22% in healthy controls. Interestingly, the MBL2 0/0 genotype was present in 7 of 33 HLA atypical celiac patients (21%) and in 13 of 116 HLA typical celiac patients (13%) but in only 7 of 147 healthy controls (5%). Furthermore, we found that MBL2 genotype is strongly associated with the occurrence of secondary autoimmune diseases. Immunohistochemistry and TUNEL findings support a role of MBL2 in the clearance of apoptotic cells. In conclusion, MBL2 variants, responsible for lower MBL levels, are associated with celiac disease and higher risk of developing autoimmune diseases. Here we propose a role for MBL in the disease which could be easily applied to other autoimmune disorders.
         datePublished:2005-01-06T00:00:00Z
         dateModified:2005-01-06T00:00:00Z
         pageStart:308
         pageEnd:315
         sameAs:https://doi.org/10.1007/s00109-004-0623-3
         keywords:
            Celiac disease
            Mannose binding lectin
            Polymorphisms
            Autoimmunity
            Apoptosis
            Molecular Medicine
            Human Genetics
            Internal Medicine
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      headline:Evidence of a correlation between mannose binding lectin and celiac disease: a model for other autoimmune diseases
      description:Celiac disease is a multifactorial disorder caused, in genetically susceptible patients, by the ingestion of dietary gluten. Very little is known about the genetic factors, but there is a strong association of two HLA haplotypes (DQ2 or α1*05, β1*02 and DQ8 or α1*0301, β1*0302) with the disease. We investigated the relationship between polymorphisms in the first exon of the MBL2 gene, which encodes for mannose binding lectin (MBL) and celiac disease. Moreover we studied the MBL role by immunohistochemistry and TUNEL. Results were confirmed by clinical findings. We enrolled 149 Italian celiac patients; 116 were characterized by the presence of DQ2 or DQ8. The HLA haplotype was established by allelic specific PCR while the MBL2 genotype was resolved by melting temperature assay. Immunohistochemistry and TUNEL assays were performed on serial sections of biopsy specimens from celiac patients and healthy controls. MBL2 allele and genotype frequencies varied significantly between celiac patients and healthy controls. The frequencies of the 0 allele were 28% in DQ2 or DQ8 celiac patients, 36% in HLA atypical celiac patients, and 22% in healthy controls. Interestingly, the MBL2 0/0 genotype was present in 7 of 33 HLA atypical celiac patients (21%) and in 13 of 116 HLA typical celiac patients (13%) but in only 7 of 147 healthy controls (5%). Furthermore, we found that MBL2 genotype is strongly associated with the occurrence of secondary autoimmune diseases. Immunohistochemistry and TUNEL findings support a role of MBL2 in the clearance of apoptotic cells. In conclusion, MBL2 variants, responsible for lower MBL levels, are associated with celiac disease and higher risk of developing autoimmune diseases. Here we propose a role for MBL in the disease which could be easily applied to other autoimmune disorders.
      datePublished:2005-01-06T00:00:00Z
      dateModified:2005-01-06T00:00:00Z
      pageStart:308
      pageEnd:315
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         Celiac disease
         Mannose binding lectin
         Polymorphisms
         Autoimmunity
         Apoptosis
         Molecular Medicine
         Human Genetics
         Internal Medicine
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      name:Epidemiology Unit, Children Hospital Burlo Garofolo, Trieste, Italy
      name:Genetic Unit, Department of Sciences of Reproduction and Development, University of Trieste, Trieste, Italy
      name:Genetic Service, Children Hospital Burlo Garofolo, Trieste, Italy
      name:Genetic Unit, Department of Sciences of Reproduction and Development, University of Trieste, Trieste, Italy
      name:Genetic Service, Children Hospital Burlo Garofolo, Trieste, Italy
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