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Article type: Research Article
Authors: Sjölander, Annicaa; * | Minthon, Lennartb | Nuytinck, Lievec | Vanmechelen, Eugeend | Blennow, Kaje | Nilsson, Staffanf
Affiliations: [a] Centre for Culture and Health, Institute of Health and Care Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden | [b] Clinical Memory Research Unit, Department of Clinical Sciences, Lund University, Lund, Sweden | [c] Clinical Research Center, Faculty for Medicine and Health Sciences, Universiteit Gent, Belgium | [d] Key4AD, Eke, Belgium | [e] Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden | [f] Department of Mathematical Sciences, Chalmers University of Technology and University of Gothenburg, Gothenburg, Sweden
Correspondence: [*] Correspondence to: Annica Sjölander, PhD, Centre for Culture and Health, University of Gothenburg, Box 100, 405 30 Gothenburg, Sweden. Tel.: +46 31 7866926; E-mail: [email protected].
Abstract: 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.
Keywords: Alzheimer's disease, cerebrospinal fluid, gene, immune response, Mannan-Binding lectin, single nucleotide polymorphism
DOI: 10.3233/JAD-122044
Journal: Journal of Alzheimer's Disease, vol. 35, no. 1, pp. 121-127, 2013
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