Mannan-Binding Lectin (MBL) Deficient Individuals with the O/O Genotype are Highly Susceptible to Gastrointestinal Diseases

摘要: Background: Mannan-binding lectin (MBL) and ficolin-3 are initiators of the pathway that is important for clearance pathogens apoptotic cells through complement activation. MBL deficiency (MBLD) has been associated with infectious complications but its clinical relevance in adults unclear. Definition MBLD commonly linked to low serum levels, mainly due functional polymorphisms MBL2 gene leading dysfunctional forms. Homozygotes alleles (O/O) have lowest levels (<50 ng/ml) a defect opsonisation Ficolin-3 homozygosity frameshift mutation (1637delC) FCN3 was recently shown be pyogenic infections lungs. Objective: The aim study thoroughly evaluate findings previously defined deficient cohort relation their genotypes. Methods: A total 120 adult individuals as (≤500 were genotyped variants 1637delC allele gene. They answered detailed questionnaire focused on pulmonary gastrointestinal infections. For comparison, 63 randomly selected from general population served control subjects. Results: In prevalence genotypes A/A, A/O O/O 14.2%, 71.2%, respectively. Thus, 85% carried O. significantly more prone variety recurrent severe than cohort. susceptible oesophagitis gastritis had undergone gastroscopy often A/A an A/O. Prevalence heterozygosity (C/-) 4.2%. Conclusion: suffer forms O might predispose diseases.