A Family-Based Association Study of Neuregulin 1 Gene and Schizophrenia: Influence of Genetic Loading and Psychotic Symptoms

• Main Authors: Shu-Ting Huang, 黃淑婷
• Other Authors: Wei J. Chen
• Format: Others
• Language: en_US
• Published: 2007
• Online Access: http://ndltd.ncl.edu.tw/handle/51223855094292871351

碩士 === 國立臺灣大學 === 流行病學研究所 === 95 === Objective. To examine the association between Neuregulin 1(NRG1) gene and schizophrenia in families of different genetic loading of schizophrenia and whether the association of the NRG1 gene is particularly with the positive symptoms of schizophrenia by means of family-based association analyses. Methods. The subjects were from two different groups: 162 simplex families (162 schizophrenic probands and 355 of their first-degree relatives) and 42 multiplex families (83 schizophrenic probands and 86 of their first-degree relatives). All participants were interviewed by trained research assistants who used the Diagnostic Interview for Genetic Studies (DIGS), and drawn for peripheral blood. The DIGS also assessed psychopathological dimensions with the Scales for the Assessment of Positive Symptoms (SAPS). Six SNPs of the NRG1 gene were genotyped and FBAT program was used to perform single-locus and haplotype association analyses in family-based study Results. The two-locus rs3924999-rs2954041 haplotype and the three-locus SNP8NRG243177-rs3924999-rs2954041 haplotype of NRG1were found to have a decreased transmission in the simplex families only, not in the multiplex ones. After stratification by positive symptoms of schizophrenia, similar results were found only for the simplex families of schizophrenia patients with delusion as well as for those with delusion or hallucination. Conclusions. The association of NRG1 gene with schizophrenia is mainly limited to patients from simplex families having delusion with or without hallucination. We concluded that NRG1 gene may play a vital role in the sporadic form of schizophrenia that is more vulnerable to environmental influences and leads to the development of delusion.