Impact of the AHI1 Gene on the Vulnerability to Schizophrenia: A Case-Control Association Study
NAGIOS: RODERIC FUNCIONANDO

Impact of the AHI1 Gene on the Vulnerability to Schizophrenia: A Case-Control Association Study

DSpace Repository

Impact of the AHI1 Gene on the Vulnerability to Schizophrenia: A Case-Control Association Study

Show simple item record

dc.contributor.author Rivero Martín, Olga María es_ES
dc.contributor.author Reif, Andreas es_ES
dc.contributor.author Sanjuán Arias, Julio es_ES
dc.contributor.author Moltó Ruiz, María Dolores es_ES
dc.contributor.author Kittel-Schneider, Sarah es_ES
dc.contributor.author Nájera Mortes, Carmen es_ES
dc.contributor.author Töpner, Theresia es_ES
dc.contributor.author Lesch, Klaus-Peter es_ES
dc.date.accessioned 2015-06-29T10:34:11Z
dc.date.available 2015-06-29T10:34:11Z
dc.date.issued 2010 es_ES
dc.identifier.uri http://hdl.handle.net/10550/44815
dc.description.abstract BackgroundThe Abelson helper integration-1 (AHI1) gene is required for both cerebellar and cortical development in humans. While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large pedigrees identified AHI1 as a positional candidate for schizophrenia. To further investigate the contribution of AHI1 to the susceptibility of schizophrenia, we evaluated the effect of AHI1 variation on the vulnerability to psychosis in two samples from Spain and Germany.Methodology/Principal Findings29 single-nucleotide polymorphisms (SNPs) located in a genomic region including the AHI1 gene were genotyped in two samples from Spain (280 patients with psychotic disorders; 348 controls) and Germany (247 patients with schizophrenic disorders; 360 controls). Allelic, genotypic and haplotype frequencies were compared between cases and controls in both samples separately, as well as in the combined sample. The effect of genotype on several psychopathological measures (BPRS, KGV, PANSS) assessed in a Spanish subsample was also evaluated. We found several significant associations in the Spanish sample. Particularly, rs7750586 and rs911507, both located upstream of the AHI1 coding region, were found to be associated with schizophrenia in the analysis of genotypic (p = 0.0033, and 0.031, respectively) and allelic frequencies (p = 0.001 in both cases). Moreover, several other risk and protective haplotypes were detected (0.006<p<0.036). Joint analysis also supported the association of rs7750586 and rs911507 with the risk for schizophrenia. The analysis of clinical measures also revealed an effect on symptom severity (minimum P value = 0.0037).Conclusions/SignificanceOur data support, in agreement with previous reports, an effect of AHI1 variation on the susceptibility to schizophrenia in central and southern European populations. es_ES
dc.source PLoS ONE Vol. 5 Issue 8: es_ES
dc.title Impact of the AHI1 Gene on the Vulnerability to Schizophrenia: A Case-Control Association Study es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.identifier.doi 10.1371/journal.pone.0012254 es_ES
dc.identifier.idgrec 075234 es_ES
dc.identifier.idgrec 066551

View       (633.1Kb)

This item appears in the following Collection(s)

Show simple item record

Search DSpace

Advanced Search

Browse

Statistics