Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population

Rossella Sorice, Silvia Bione, Serena Sansanelli, Sheila Ulivi, Emmanouil Athanasakis, Carmela Lanzara, Teresa Nutile, Cinzia Sala, Clara Camaschella, Pio D'Adamo, Paolo Gasparini, Marina Ciullo, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review


Large-scale population studies have established that genetic factors contribute to individual differences in smoking behavior. Linkage and genome-wide association studies have shown many chromosomal regions and genes associated with different smoking behaviors. One study was the association of single-nucleotide polymorphisms (SNPs) in the CHRNA5-A3-B4 gene cluster to nicotine addiction. Here, we report a replication of this association in the Italian population represented by three genetically isolated populations. One, the Val Borbera, is a genetic isolate from North-Western Italy; the Cilento population, is located in South-Western Italy; and the Carlantino village is located in South-Eastern Italy. Owing to their position and their isolation, the three populations have a different environment, different history and genetic structure. The variant A of the rs1051730 SNP was significantly associated with smoking quantity in two populations, Val Borbera and Cilento, no association was found in Carlantino population probably because difference in LD pattern in the variant region.

Original languageEnglish
Pages (from-to)593-596
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number5
Publication statusPublished - May 2011


  • CHRNA5-A3-B4 cluster
  • Genetic association
  • Nicotine addiction

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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