| Abstract |
Thrombospondin 1 (THBS1), a multi-domain glycoprotein, is secreted from astrocytes and promotes synaptogenesis. Increasing evidence has suggested that not only various markers for synaptic pathology, but also astrocytes are affected inschizophrenia. In this study, we investigated whether coding region single nucleotide polymorphisms (cSNPs) of theTHBS1gene were associated withschizophreniaand with the clinical symptoms ofschizophreniapatients. We genotyped two cSNPs [rs2228261 (Asn470Asn) and rs2292305 (Thr523Ala)] using direct sequencing in 220schizophreniapatients and 376 control subjects. In this study, rs2228261 revealed significant association withschizophreniain both codominant (TT vs. CC, P = 0.009, OR = 2.10, 95% CI = 1.23-3.59) and recessive models (TT vs. CC/CT, P = 0.0012, OR = 2.28, 95% CI = 1.38-3.77). Also, rs2292305 was associated withschizophreniain the recessive model (GG vs. AA/AG, P = 0.0052, OR = 2.05, 95% CI = 1.24-3.38). Additionally, in the analysis of the haplotype, the CA and TG haplotypes consisting of rs2228261 and rs2292305 were associated withschizophreniain the dominant (P = 0.019, OR = 1.79, 95% CI = 1.10-2.90) and recessive models, respectively (P = 0.0086, OR = 0.51, 95% CI = 0.31-0.84). In further analysis according to the clinical symptoms, rs2292305 showed a weak association with the poor concentration symptoms ofschizophreniapatients in the dominant model (AG/GG vs. AA, P = 0.024, OR = 2.04, 95% CI = 1.09-3.83). The results suggest that theTHBS1gene may contribute to the susceptibility ofschizophrenia. |