title: Coding polymorphisms in the genes of the alternative complement pathway and abdominal aortic aneurysm.
abstract: Variants in the genes of the alternative complement pathway are associated with risk of numerous inflammatory diseases. Abdominal aortic aneurysm is associated with inflammation and is a common cause of illness and death among European populations. This study tested 49 single nucleotide polymorphisms, including common putatively functional polymorphisms, in the genes of the alternative complement cascade (CFH, CFB, CFD, CFI, properdin, CR1, CR1L, CR2, CD46, vitronectin, C3, C5, C6, C7, C8A, C8B, C8G and C9). The study group were 434 cases with infra-renal aortic diameter ≥30 mm and 378 disease-free controls from two UK centres, all with self-reported European ancestry. There was no evidence for significant association with presence or size of aneurysm following correction for multiple testing. This study suggests that variation in the genes of the alternative pathway is not an important cause of abdominal aortic aneurysm development.
authors.affiliation: Centre for Public Health, Institute of Clinical Sciences, Queen's University Belfast, Royal Victoria Hospital, Grosvenor Road, Belfast, UK. dbradley09@qub.ac.uk
authors.forename: D T
authors.initials: DT
authors.lastname: Bradley
authors.forename: S A
authors.initials: SA
authors.lastname: Badger
authors.forename: M J
authors.initials: MJ
authors.lastname: Bown
authors.forename: R D
authors.initials: RD
authors.lastname: Sayers
authors.forename: A E
authors.initials: AE
authors.lastname: Hughes
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D017544:Aortic Aneurysm, Abdominal / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D003170:Complement Pathway, Alternative / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*