RGD Reference Report - Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. - Rat Genome Database

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Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia.

Authors: Pifferi, M  Bush, A  Michelucci, A  Di Cicco, M  Piras, M  Caramella, D  Mazzei, F  Neri, M  Pioggia, G  Tartarisco, G  Saggese, G  Simi, P  Boner, AL 
Citation: Pifferi M, etal., Pediatr Pulmonol. 2015 Feb;50(2):179-86. doi: 10.1002/ppul.23026. Epub 2014 Apr 19.
RGD ID: 11250592
Pubmed: PMID:24753481   (View Abstract at PubMed)
DOI: DOI:10.1002/ppul.23026   (Journal Full-text)

BACKGROUND: Mannose-binding lectin (MBL) plays an important role in innate immunity and has been reported to be associated with the age-related decline in lung function in cystic fibrosis. HYPOTHESIS: MBL polymorphisms are associated with lung function decline in Primary Ciliary Dyskinesia (PCD). METHODS: We performed sputum microbiology, spirometry pre- and post-administration of salbutamol, ciliary motion analysis, ultrastructural assessment of cilia, ciliogenesis in culture, and chest high resolution computed tomography in children with a clinical history of respiratory tract infections and/or presence of bronchiectasis suggestive of PCD or secondary ciliary dyskinesia (SCD). All subjects were evaluated for single nucleotide polymorphisms in the gene encoding MBL-2. RESULTS: The diagnosis of PCD was established in 45 subjects, while in the remaining 53 the diagnosis was SCD. A significant bronchodilator response was observed only in PCD associated with the MBL2-3 genotype, which is known to be associated with low/undetectable MBL serum levels. Also, bronchiectasis severity was significantly greater in subjects with MBL2-3 in both PCD and SCD. No other association was found between MBL genotypes and clinical findings. CONCLUSIONS: MBL plays a relatively minor role as a disease modifier in PCD. A similar finding in SCD supports the likely significance of this result.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MBL2HumanKartagener syndrome severityIAGP DNA:haplotype:promoter:RGD 
Mbl2RatKartagener syndrome severityISOMBL2 (Homo sapiens)DNA:haplotype:promoter:RGD 
Mbl2MouseKartagener syndrome severityISOMBL2 (Homo sapiens)DNA:haplotype:promoter:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
MBL2  (mannose binding lectin 2)


Additional Information