Effect of IL-6 polymorphism on risk of Alzheimer disease: Genotype-phenotype association study in Japanese cases

Autor: Shibata, Nobuto, Ohnuma, Tohru, Takahashi, Tadashi, Baba, Hajime, Ishizuka, Takuya, Ohtsuka, Mieko, Ueki, Akira, Nagao, Masatsugu, Arai, Heii
Zdroj: American Journal of Medical Genetics. Part A; 8 May 2002, Vol. 114 Issue: 4 p436-439, 4p
Abstrakt: Interleukin-6 (IL-6), an inflammatory cytokine might be involved in the pathophysiology of Alzheimer disease (AD); several studies have reported that the “C allele of IL-6 variable number of tandem repeat polymorphism” (IL-6vntr) delayed initial onset of AD and also decreased its risk per se. Another polymorphism, G/C allele of IL-6 gene promoter region (IL-6prom), is also a candidate because it has an influence on the regulation of plasma IL-6 concentration. We examined these IL-6 polymorphisms in 128 Japanese AD cases and 83 control cases using a PCR-RFLP method. The results showed the frequency of the IL-6prom G allele was significantly increased in AD, although IL-6vntr polymorphism was not. Plasma IL-6 concentration of the AD cases was also significantly higher than that of the control cases. Moreover, the IL-6prom G allele-positive AD patients showed a tendency to have higher IL-6 concentration in the AD group. These findings suggest that the IL-6prom G allele which may affect plasma IL-6 concentration might be a risk factor for sporadic AD in Japanese. © 2002 Wiley-Liss, Inc.
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