|Title:||Association Evidence of Schizophrenia with Distal Genomic Region of Notch 4 in Taiwanese Families||Authors:||LIU, CHIH-MIN
|Keywords:||chromosome 6p;family-based association study;NOTCH4;schizophrenia||Issue Date:||2007||Source:||GENES BRAIN AND BEHAVIOR||Journal Volume:||v.6||Journal Issue:||n.6||Start page/Pages:||497-502||Abstract:||
Evidence for association with schizophrenia has been reported for NOTCH4, although results have been inconsistent . Previous studies have focused on polymorphisms in the 5’promoter region and first exon of NOTCH4. Our aim here was to test the association of the entire genomic region of NOTCH 4 in 218 families with at least two affected siblings of schizophrenia in Taiwan. We genotyped seven SNPs of this gene with average inter-marker distances of 5.3 kb. Inter- marker linkage disequilibrium was calculated with GOLD, and single locus and haplotype association analyses were performed with TRANSMIT. We found the T allele of SNP rs 2071285 (p=0.035) and the G allele of SNP rs204993 (p=0.0097 ) were significantly preferentially transmitted to the affected individuals in the single locus association analysis. The two SNPs were in high linkage disequilibrium ( D’ > 0.8). Trend for over-transmission was demonstrated for the T-G haplotype of the two SNPs to affected individuals ( p=0.053), with the A-A haplotype significantly under- transmitted (p=0.034). The associated region distributed across the distal portion of the NOTCH4 gene and overlapped with the genomic region of the G-protein signaling modulator 3 (GPSM3), and pre-B-cell leukemia transcription factor 2 ( PBX2). In summary, we found modest association evidence between schizophrenia and the distal genomic region of NOTCH 4 in this Taiwanese family sample. Further replication for association with the distal genomic region of NOTCH4 is warranted.
|Appears in Collections:||醫學系|
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