Positive association of the human STON2 gene with... : NeuroReport (original) (raw)

GENETICS OF NERVOUS SYSTEM DISEASE

Luan, Zhilina,b; Zhang, Yanlinga,b; Lu, Tianlana,b; Ruan, Yana,b; Zhang, Hongyana,b; Yan, Juna,b; Li, Lingzhia,b; Sun, Weia,b; Wang, Lifanga,b; Yue, Weihuaa,b; Zhang, Daia,b

aInstitute of Mental Health, Peking University

bKey Laboratory for Mental Health, Ministry of Health, Beijing, China

Correspondence to Dai Zhang, MD and Weihua Yue, MD, Institute of Mental Health, Peking University, 51 Hua Yuan Bei Road, Beijing 100191, PR China Tel: +86 10 8280 1960; fax: +86 10 6207 8246; e-mail: [email protected]; e-mail: [email protected]

Received December 31, 2010

Accepted February 10, 2011

Abstract

Synaptic hypothesis of schizophrenia suggests that alterations of synaptic transmission and neuronal connectivity might be core feature of schizophrenia. STON2 participates in synaptic vesicle protein recognition and neural endocytosis. To explore the association of STON2 with schizophrenia, 11 single nucleotide polymorphisms (SNPs) were examined in 768 Chinese Han schizophrenia cases and 1347 Chinese Han controls. The results showed that three SNPs had strong association with schizophrenia, two exonic SNPs (rs2241621: allelic _P_=0.0005; rs3813535: allelic _P_=0.0078) and one intronic SNP (rs9323698: allelic _P_=0.0019). When haplotype analysis performed, two linkage disequilibrium blocks showed significant differences in frequency between cases and controls. Notably, our data displays an over-transmitted functional haplotype C-C (Pro307-Ala851) in schizophrenia cases. Our results suggest STON2 may be a susceptibility gene for schizophrenia.