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

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, Alberto Pilotto, Pietro Fiore, Antonio Capurso, Francesco Panza

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)177-182
Number of pages6
JournalProgress in Neuro-Psychopharmacology and Biological Psychiatry
Issue number1
Publication statusPublished - Jan 20 2010


  • Alzheimer's disease
  • Chromosome 7
  • Dementia
  • IL-6 VNTR
  • IL-6-174 C/G promoter

ASJC Scopus subject areas

  • Biological Psychiatry
  • Pharmacology


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