Association study of serotonin 2A receptor (5-HT2A) and serotonin transporter (5-HTT) gene polymorphisms with schizophrenia |
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Authors: | Sáiz Pilar A García-Portilla M Paz Arango Celso Morales Blanca Alvarez Victoria Coto Eliécer Fernández Juan M Bascarán M Teresa Bousoño Manuel Bobes Julio |
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Affiliation: | Department of Psychiatry, School of Medicine, University of Oviedo, Julián Clavería 6 - 3 degrees, 33006 Oviedo, Spain. frank@uniovi.es |
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Abstract: | OBJECTIVE: To investigate (i) the association between four serotonergic polymorphisms (A-1438G and T102C of the 5-HT2A receptor gene, and 5-HTT VNTR and 5-HTTLPR of the 5-HT transporter gene) and schizophrenia and (ii) the potential interaction of those polymorphisms in the development of schizophrenia. SUBJECTS AND METHODS: 227 outpatients with schizophrenia (DSM-IV criteria) and 420 unrelated healthy controls from Asturias (Northern Spain) were genotyped using standard methods. RESULTS: Both groups showed Hardy-Weinberg equilibrium for the analyzed genetic variability. A-1438G and T102C polymorphisms are in complete linkage disequilibrium in our population. There was an apparent difference in the distribution of genotypes for the A-1438G (or T102C) polymorphisms (p=0.018, not significant after a Bonferroni correction). The 5-HT2A -1438A (or 102T) allele was significantly more frequent in patients than controls (0.53 and 0.45, respectively; corrected p=0.028, OR=1.39 (95% CI=1.11-1.75)). Genotype and allele distributions for 5-HTT polymorphisms were similar in both groups. However, assessment of the combined influence of 5-HT2A A-1438G and 5-HTTLPR polymorphisms demonstrated a significant effect (chi(2) (3)=11.51, p=0.009), whereby the combination of -1438A and 5-HTTLPR S alleles was associated with schizophrenia. CONCLUSIONS: Our findings support a possible synergistic effect of genetic factors influencing serotonergic neurotransmission on susceptibility to schizophrenia. |
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Keywords: | CI, Confidence interval df, Degrees of freedom LD, Linkage disequilibrium LRT, Likelihood ratio test OR, Odds ratio SNP, Single nucleotide polymorphism VNTR, Variable number tandem repeats 5-HT, Serotonin |
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