The rs11191580 variant of the NT5C2 gene is associated with schizophrenia and symptom severity in a South Chinese Han population: evidence from GWAS

• Autor(a) principal: Li,Zhen
• Data de Publicação: 2017
• Outros Autores: Jiang,Juan, Long,Jianxiong, Ling,Weijun, Huang,Guifeng, Guo,Xiaojing, Su,Li
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Psychiatry (São Paulo. 1999. Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-44462017000200104
• topic: Schizophrenia; susceptibility; clinical symptom; rs11191580; GWAS-supported genetic variant

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.