Polymorphism of gene coding for serotonin receptor type 2A in healthy humans

Serotonin je biogeni amin koji u središnjem živčanom sustavu ima ulogu neurotransmitera te svoje djelovanje ostvaruje kroz interakciju sa specifičnim receptorima. 5-HT-2A spada u skupinu receptora koji su vezani uz G protein, a stimulacija ovog receptora prvenstveno dovodi do aktivacije fosfolipaze C (PLC). Receptor je produkt HTR2A gena u čijem se kodirajućem dijelu nalazi tihi polimorfizam T102C. Provedeno je istraživanje nad 195 pripadnika zdrave hrvatske populacije pušača i nepušača kako bi se odredila učestalost pojavljivanja pojedinih alela i genotipova ovog polimorfizma. Uspoređujući dobivene rezultate sa podacima iz literature uočeno je kako frekvencija pojavljivanja alela C opada od sjevera prema jugu Europe što je u skladu s predloženim Baritakijevim modelom, dok je na svjetskoj razini učestalost pojavljivanja ovog alela varijabilna i nemoguće je primjetiti određene pravilnosti. Između populacije pušača i nepušača nije bilo razlike u distribuciji alela i genotipova što je suprotno objavljenim rezultatima.Serotonin is biogenic amine which acts as neurotransmitter in central nervous system (CNS) by interacting with specific receptors. 5-HT-2A is G protein coupled receptor, and stimulation of this receptor primarily leads to the activation of phospholipase C (PLC). The receptor is coded by the HTR2A gene which contains a silent polymorphism T102C inside the coding region. Research was conducted in order to determine the frequency of certain alleles and genotypes over the healthy population of both Croatian smokers and non-smokers. When compared to data found in literature, the research showed that frequency of allele C decreases with latitude in Europe which complies perfectly with Baritaki's model. However, on a world scale allele’s frequency is extremely variable, making it impossible to fit any known model. In contrast with the results published, there was no difference in distribution of alleles and genotypes among population of smokers and non smokers