RGD Reference Report - Functional mannose-binding lectin haplotype variants are associated with Alzheimer's disease. - Rat Genome Database

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Functional mannose-binding lectin haplotype variants are associated with Alzheimer's disease.

Authors: Sjölander, Annica  Minthon, Lennart  Nuytinck, Lieve  Vanmechelen, Eugeen  Blennow, Kaj  Nilsson, Staffan 
Citation: Sjölander A, etal., J Alzheimers Dis. 2013;35(1):121-7. doi: 10.3233/JAD-122044.
RGD ID: 12910848
Pubmed: PMID:23348713   (View Abstract at PubMed)
DOI: DOI:10.3233/JAD-122044   (Journal Full-text)

Mannan-Binding lectin (MBL) is a serum lectin and an important constituent of the innate immune system. Processes linked to the innate immune response have previously been implicated in Alzheimer's disease (AD). MBL is associated with blood vessels in the brain and AD patients demonstrate lower MBL levels in the cerebrospinal fluid compared to controls. We investigated six single nucleotide polymorphisms, linked to MBL deficiency, in the corresponding MBL2 gene in AD patients and controls. Two MBL2 haplotypes, LXP and LYQ, were significantly associated with AD risk (OR = 1.6, p = 0.01 and OR = 1.5, p = 0.02, respectively). The present study is the first investigating MBL2 genotypes and haplotypes in relation to AD. Our findings support that the MBL2 gene impact the disease risk.




  
Object Symbol
Species
Term
Qualifier
Evidence
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Original Reference(s)
MBL2HumanAlzheimer's disease susceptibilityIAGP DNA:haplotype:promoter:RGD 
Mbl2RatAlzheimer's disease susceptibilityISOMBL2 (Homo sapiens)DNA:haplotype:promoter:RGD 
Mbl2MouseAlzheimer's disease susceptibilityISOMBL2 (Homo sapiens)DNA:haplotype:promoter:RGD 


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)