title: Complement gene single nucleotide polymorphisms and biomarker endophenotypes of Alzheimer's disease.
abstract: The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.
authors: Institute of Neuroscience and Physiology, Department of Physiology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
authors: Jonny
authors: J
authors: Daborg
authors: Sandra
authors: S
authors: Holmgren
authors: Alexandra
authors: A
authors: Abramsson
authors: Ulf
authors: U
authors: Andreasson
authors: Madeleine
authors: M
authors: Zetterberg
authors: Staffan
authors: S
authors: Nilsson
authors: Lennart
authors: L
authors: Minthon
authors: Ingmar
authors: I
authors: Skoog
authors: Kaj
authors: K
authors: Blennow
authors: Marcela
authors: M
authors: Pekna
authors: Eric
authors: E
authors: Hanse
authors: Henrik
authors: H
authors: Zetterberg
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics*; D015415:Biomarkers / Q000134:cerebrospinal fluid; D016022:Case-Control Studies; D058068:Endophenotypes / Q000134:cerebrospinal fluid*; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D015415:Biomarkers; D005819:Genetic Markers