TY - JOUR T1 - Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. JF - Eur J Hum Genet Y1 - 2011 A1 - Sorice, Rossella A1 - Bione, Silvia A1 - Sansanelli, Serena A1 - Ulivi, Sheila A1 - Athanasakis, Emmanouil A1 - Lanzara, Carmela A1 - Nutile, Teresa A1 - Sala, Cinzia A1 - Camaschella, Clara A1 - d'Adamo, Pio A1 - Gasparini, Paolo A1 - Ciullo, Marina A1 - Toniolo, Daniela KW - Genetic Predisposition to Disease KW - Genome-Wide Association Study KW - Humans KW - Italy KW - Multigene Family KW - Nerve Tissue Proteins KW - Polymorphism, Single Nucleotide KW - Receptors, Nicotinic KW - Smoking KW - Tobacco Use Disorder AB -

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.

VL - 19 IS - 5 U1 - http://www.ncbi.nlm.nih.gov/pubmed/21248747?dopt=Abstract ER -