title: The role of -850 tumor necrosis factor-alpha and apolipoprotein E genetic polymorphism in patients with Down's syndrome-related dementia.
abstract: Down's syndrome (DS) is a disease with a complex etiology. It is likely that other factors besides genes located on chromosome 21 may play a role in clinical features of affected patients. Tumor necrosis factor-alpha (TNF-alpha) (6p21.3) and apolipoprotein E (APOE) (19q13.2) are candidate genes as they interact with the brain deposition of Abeta, one of the neuropathological hallmarks in DS. We examined 136 DS patients and 113 controls for -850 TNF-alpha and APOE polymorphisms. The -850T frequency in DS was significantly higher than in controls (P<0.005, OR 2.05, 95% CI 1.22-3.49) while the APOE E4 allele was negatively selected in patients compared to normal subjects (P<0.005, OR 0.38, 95% CI 0.20-0.71). Our findings suggest that the -850T allele, which is more common among patients at high risk of dementia such as those with DS, might eventually play a role in the development of dementia; no inference on the role of the allele APOE E4 in DS-related dementia may be derived from our results.
authors: Institute of Molecular Biology and Pathology, National Research Council, Rome, 00185 Rome, Italy.
authors: Paola
authors: P
authors: Lucarelli
authors: Antonella
authors: A
authors: Piciullo
authors: Magda
authors: M
authors: Verdecchia
authors: Mariella
authors: M
authors: Palmarino
authors: Carla
authors: C
authors: Arpino
authors: Paolo
authors: P
authors: Curatolo
mesh_terms: D000293:Adolescent; D000328:Adult; D001057:Apolipoproteins E / Q000235:genetics*; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D016001:Confidence Intervals; D003704:Dementia / Q000150:complications / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E; D014409:Tumor Necrosis Factor-alpha