Association of thrombospondin 1 gene with schizophrenia in Korean population

• Published in: Molecular biology reports 2012-06, Vol.39 (6), p.6875-6880
• Main Authors: Park, Hae Jeong, Kim, Su Kang, Kim, Jong Woo, Kang, Won Sub, Chung, Joo-Ho
• Format: Article
• Language: English
• Subjects: Adult; Animal Anatomy; Animal Biochemistry; Astrocytes; Attention; Biomedical and Life Sciences; Case-Control Studies; Female; Gene Frequency; Genes; Genes, Dominant; Genetic Association Studies; Glycoproteins; Haplotypes; Histology; Humans; Life Sciences; Logistic Models; Male; Mental disorders; Middle Aged; Models, Genetic; Morphology; patients; Polymorphism, Single Nucleotide; Population genetics; Republic of Korea; Schizophrenia; Schizophrenia - genetics; Schizophrenic Psychology; Single-nucleotide polymorphism; Synaptogenesis; Thrombospondin; Thrombospondin 1 - genetics
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-012-1513-3

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 in schizophrenia. In this study, we investigated whether coding region single nucleotide polymorphisms (cSNPs) of the THBS1 gene were associated with schizophrenia and with the clinical symptoms of schizophrenia patients. We genotyped two cSNPs [rs2228261 (Asn470Asn) and rs2292305 (Thr523Ala)] using direct sequencing in 220 schizophrenia patients and 376 control subjects. In this study, rs2228261 revealed significant association with schizophrenia in 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 with schizophrenia in 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 with schizophrenia in 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 of schizophrenia patients in the dominant model (AG/GG vs. AA, P = 0.024, OR = 2.04, 95% CI = 1.09–3.83). The results suggest that the THBS1 gene may contribute to the susceptibility of schizophrenia.