Interleukin 6–174 G/C promoter and variable number of tandem repeats (VNTR) gene polymorphisms in sporadic Alzheimer's disease

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• 作者：Cristiano Capurso ; Vincenzo Solfrizzi ; Anna Maria Colacicco ; Alessia D'Introno ; Vincenza Frisardi ; Bruno P. Imbimbo ; Maria Lorusso ; Gianluigi Vendemiale ; Marta Denitto ; Andrea Santamato ; Davide Seripa
• 关键词：Alzheimer's disease ; Chromosome 7 ; Dementia ; IL-6 VNTR ; IL-6– ; 174 C/G promoter
• 刊名：Progress in Neuro-Psychopharmacology and Biological Psychiatry
• 出版年：2010
• 出版时间：1 February 2010
• 年：2010
• 卷：34
• 期：1
• 页码：177-182
• 全文大小：162 K

文摘

Background

Previous studies examining the association between the interleukin 6 (IL-6)–174 C/G polymorphism and Alzheimer's disease (AD) have yielded conflicting results. Furthermore, the C allele of the IL-6 variable number of tandem repeats (VNTR) polymorphism was associated with a delayed onset and a decreased risk of AD.

Methods

A total sample of 149 AD patients, and 298 age- and sex-matched unrelated caregivers from Apulia, southern Italy, were genotyped for the apolipoprotein E (APOE) polymorphism, the VNTR polymorphism in the 3' flanking region, and the -174G/C single-nucleotide polymorphism (SNP) in the promoter region of IL-6 gene on chromosome 7. Furthermore, we performed a haplotype analysis on these two polymorphisms on IL-6 locus.

Results

IL-6 VNTR and -174G/C allele and genotype frequencies were similar between AD patients and controls, also after stratification for late-onset (≥ 65 years) and early-onset (< 65 years) or APOE ε4 status. Furthermore, there was no evidence of linkage disequilibrium between the VNTR and -174G/C polymorphisms, not supporting a previous reported additive effect of both IL-6 polymorphisms on AD risk.

Conclusions

Our findings did not support a role of IL-6–174 G/C and IL-6 VNTR polymorphisms in the risk of sporadic AD in southern Italy, suggesting that these polymorphisms of IL-6 gene were at most weak genetic determinants of AD.