Original articleA Single Nucleotide Polymorphism Fine Mapping Study of Chromosome 1q42.1 Reveals the Vulnerability Genes for Schizophrenia, GNPAT and DISC1: Association with Impairment of Sustained Attention
Section snippets
Subjects
Schizophrenic patients who had at least one affected sibling (the proband cases) were identified from the Department of Psychiatry, National Taiwan University Hospital, and the university-affiliated Taoyuan Psychiatric Center. This research project was approved by the Institutional Review Board of National Taiwan University Hospital. Data collection was initiated after informed consents were obtained from the identified study subjects and their families. All family members were personally
SNP Validation
An SNP was considered valid if the frequency of minor allele was larger than 10% and the genotyping missing rate was smaller than 30%. Forty-seven of 120 SNPs met the validity criteria. The 47 SNPs span across 1591 kb around the D1S251 marker (Table 1) and cover 12 known functional genes of COG2, AGT, CAPN9, FLJ14525, FLJ 22584, ARV1, TRIM67, GNPAT, DKFZP547NO43 (Clorf124), EGLN1, TRAX, and DISC1. Four genes, CAPN9, ARV1, TRIM67, and Clorf124, did not have valid SNPs for further analyses. As
Discussion
We found two haplotype blocks using SNP fine mapping study around the D1S251 marker with significant association with schizophrenia. The first block of rs487047-rs508908-rs538643-rs539699-rs578945 covers the genetic region of the GNPAT (or DHAPAT) gene, and the second block of rs2793092-rs2793091 is located within the DISC1 gene. The first block in the GNPAT gene encodes the dihydroxyacetone-phosphate acyltransferase enzyme (DHAPAT) that is located within peroxisomes and catalyzes the
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