Interleukin-6 promoter polymorphism: risk and pathology of Alzheimer's disease.
Inflammatory and immune responses are involved in the pathogenesis of Alzheimer's disease (AD). Interleukin-6 (IL-6), an inflammatory cytokine, is thought to play a role in neurodegeneration of the central nervous system and has been associated with increased amyloid precursor protein expression in vitro and greater cognitive decline. Previously a C-174G polymorphism in the promoter of IL-6, which influences expression in vitro, has been found associated in some studies but not all. We investigated this polymorphism in a large independent UK sample of AD cases (n = 356) and controls (n 434) but found no association. We extended the study to genotype/phenotype correlations but found no correlation with age of onset (n = 338), brain amyloid load (n = 126) or Tau load (n = 101), brain microglial cell load (n = 65) or brain reactive astrocytes (n = 127). Our data do not support a pathogenic role in AD for the C-174G polymorphism in isolation.
Zhang
Yong
Y
Department of Psychiatry, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Birmingham, B15 2QZ, UK.
Hayes
Angela
A
Pritchard
Antonia
A
Thaker
Uma
U
Haque
M Sayeed
MS
Lemmon
Helen
H
Harris
Judith
J
Cumming
Alistair
A
Lambert
Jean-Charles
JC
Chartier-Harlin
Marie-Christine
MC
St  Clair
David
D
Iwatsubo
Takeshi
T
Mann
David M
DM
Lendon
Corinne L
CL
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D005260:Female; D005786:Gene Expression Regulation / Q000276:immunology; D006801:Humans; D015850:Interleukin-6 / Q000096:biosynthesis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000276:immunology*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors
D015850:Interleukin-6