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

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 (OR(adj) = 0.769; 95%CI(adj) = 0.600-0.984; p(adj) = 0.037). PANSS scores showed a significant association between variant rs11191580 and total score (p(adj) = 0.032), lack of response scale score (p(adj) = 0.022), and negative scale score (additive: p(adj) = 0.004; dominant: p(adj) = 0.016; recessive: p(adj) = 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.