The C Allele of Synonymous SNP (rs1142636, Asn170Asn) in SYN1 Is a Risk Factor for the Susceptibility of Korean Female Schizophrenia

Abstract

KEY WORDS gender; polymorphism; schizophrenia; synapsin I; synapsin II; X chromosome Objective: The aim of this study was to investigate the association between the exonic single nucleotide polymorphisms (SNPs) of synapsin I (SYN1) (rs1142636, Asn170Asn, Xp11.23) and SYN2 (rs2289708, 3 0 -untranslated region, 3p25) in schizopherenia. Methods: Two hundred eighty six schizophrenia patients and 304 control subjects were recruited. SNPs with a know heterozygosity and minor allele fre- quency (MAF) > 0.1 in Asian populations were selected and genotyped by direct sequencing. Results: The allelic frequencies of rs1142636 (SYN1) were associated with schizophrenia (P < 0.05), respectively. The allelic frequency of rs1142636 in all subjects was associated with schizophrenia [P 5 0.000059, OR 5 2.17 (95% CI 5 1.47–3.18)]. The C allele frequency of rs1142636 was higher in schizophrenia (20.8%) than that in controls (10.8%). In the analysis of gender, the allelic frequency of rs1142636 was also strongly associated with female schizophrenia [P 5 0.0001, OR 5 2.65 (95% CI 5 1.61–4.36)], but not with male schizophrenia. The C allele frequency of rs1142636 was higher in female schizophrenia (22.2%) than that in female controls (9.7%). The rs2289708 SNP (SYN2) did not show any association between schizophrenia and con- trols. Conclusions: These results suggest that the C allele of a synonymous SNP (rs1142636, Asn170Asn, Xp11.23) in SYN1 may be a risk factor for the susceptibility of Koreran female schizophrenia. Synapse 66:979–983, 2012.