title: Association between an interleukin-6 promoter and 3' flanking region haplotype and reduced Alzheimer's disease risk in a German population.
abstract: Several studies have demonstrated that interleukin-6 (IL-6) is involved in the pathogenesis of Alzheimer's disease (AD). We previously reported on an association between the C allele of a variable number of tandem repeat polymorphism in the 3' flanking region of IL-6 gene (IL-6vntr) and delayed initial onset and reduced AD risk. A novel G/C polymorphism at position -174 in the IL-6 gene promoter (IL-6prom) has recently been identified and appears to influence the regulation of IL-6 expression. We examined this functional polymorphism in 102 AD patients and two control groups of 191 healthy subjects and 160 depressed patients. There was no evidence for an allelic association between IL-6prom polymorphism and earlier age of onset or risk of AD. However, haplotype analysis showed a strong linkage disequilibrium between IL-6vntr and IL-6prom and demonstrated an interaction between IL-6vntr and IL-6prom which modifies AD risk.
authors.affiliation: Department of Psychiatry and Psychotherapy, Rheinische Friedrich-Wilhelms-Universität, Sigmund-Freud-Strasse 25, 53105, Bonn, Germany. bagli@uni-bonn.de
authors.forename: M
authors.initials: M
authors.lastname: Bagli
authors.forename: A
authors.initials: A
authors.lastname: Papassotiropoulos
authors.forename: M
authors.initials: M
authors.lastname: Knapp
authors.forename: F
authors.initials: F
authors.lastname: Jessen
authors.forename: M
authors.initials: M
authors.lastname: Luise Rao
authors.forename: W
authors.initials: W
authors.lastname: Maier
authors.forename: R
authors.initials: R
authors.lastname: Heun
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency; D005838:Genotype; D005858:Germany; D006239:Haplotypes; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D018598:Minisatellite Repeats; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012016:Reference Values; D012044:Regression Analysis; D012307:Risk Factors; D044465:White People
chemical_list: D015850:Interleukin-6