Mata I, Arranz MJ, Patiño A, Lai T, Beperet M, Sierrasesumaga L, et al. Serotonergic polymorphisms and psychotic disorders in populations from North Spain. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2004;126B(1):88-94.
There is strong biological evidence relating alterations in the serotonergic
system with mental disorders. These alterations may be originated at the DNA
level by sequence mutations that alter the functioning of serotonin receptors and
transporter. To test this hypothesis we investigated three genetic variants of
the 5-HT2A receptor (-1438G/A, 102T/C and His452Tyr) and two variants of the
serotonin transporter (a VNTR in the second intron and a 44 bp insertion/delition
in the promoter region of the gene) in a clinical sample recruited in a human
isolate and in surrounding areas in Northern Spain (N = 257) and in ethnically
matched controls (N = 334). No clear association was found between 5-HT2A
variants and psychosis. However, marginal associations were observed between the
5-HTT LPR and VNTR variants and psychosis (P < or = 0.05) indicating a minor
contribution to psychosis of genetic alterations in this gene.