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

Daniela Toniolo (1) , Rossella Sorice (1) , Silvia Bione (1) , Serena Sansanelli (1) , Sheila Ulivi (1) , Emmanouil Athanasakis (1) , Carmen Lanzara (1) , Teresa Nutile (1) , Cinzia Sala (1) , Clara Camaschella (1) , Pio d'Adamo (1) , Paolo Gasparini (1) , Marina Ciullo (1)

1 Genetics and Cell Biology

Large scale population studies have established that genetic factors contribute to individual differences in smoking behavior. Linkage and genome wide association (GWA) studies have shown many chromosomal regions and genes associated with different smoking behaviors. One study was the association of 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. Due 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.

Mots clés: nicotine addiction; CHRNA5-A3-B4 cluster; genetic association

Daniela Toniolo, Rossella Sorice, Silvia Bione, Serena Sansanelli, Sheila Ulivi, et al.. Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy-smoking in the Italian population.. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.240⟩. ⟨hal-00609407⟩