The rs11191580 variant of the NT5C2 gene is associated with schizophrenia and symptom severity in a South Chinese Han population: evidence from GWAS
Braz. J. Psychiatry (São Paulo, 1999, Impr.); 39 (2), 2017
Publication year: 2017
Objective:
Recent genome-wide association studies have identified a significant relationship between the NT5C2 variant rs11191580 and schizophrenia (SCZ) in European populations. This study aimed to validate the association of rs11191580 polymorphism with SCZ risk in a South Chinese Han population. The relationship of this polymorphism with the severity of SCZ clinical symptoms was also explored.Methods:
A case-control study was performed in 462 patients with SCZ and 598 healthy controls. Rs11191580 was genotyped by the Sequenom MassARRAY iPLEX platform. A total of 459 SCZ patients completed the Positive and Negative Syndrome Scale (PANSS) evaluation. Data were analyzed by PLINK software.Results:
We confirmed an association of the rs11191580 polymorphism with SCZ risk in South Chinese Han under a dominant genetic model (ORadj = 0.769; 95%CIadj = 0.600-0.984; padj = 0.037). PANSS scores showed a significant association between variant rs11191580 and total score (padj = 0.032), lack of response scale score (padj = 0.022), and negative scale score (additive: padj = 0.004; dominant: padj = 0.016; recessive: padj = 0.021) after data were adjusted for age and sex.Conclusion:
NT5C2 variant rs11191580 conferred susceptibility to SCZ and affected the clinical symptoms of SCZ in a South Chinese Han population.
Pueblo Asiatico/genética, Estudios de Casos y Controles, China, Frecuencia de los Genes, Estudio de Asociación del Genoma Completo/métodos, Técnicas de Genotipaje, Modelos Lineales, Polimorfismo de Nucleótido Simple/genética, Escalas de Valoración Psiquiátrica, Valores de Referencia, Factores de Riesgo, Esquizofrenia/genética, Índice de Severidad de la Enfermedad