Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia

作者：Debono R; Topless R; Markie D; Black M A; Merriman T R^*

来源：Genes, Brain and Behavior, 2012, 11(7): 859-863.

DOI：10.1111/j.1601-183X.2012.00832.x

• association
• chromosome 11
• DISC1
• DISC1FP
• GAIN
• linkage disequilibrium
• polymorphism
• schizophrenia
• SNP
• translocation

The Disrupted-in-Schizophrenia 1 (DISC1) locus on human chromosome 1 was identified as a consequence of its involvement in a balanced translocation (1;11)(q42.1;q14.3) segregating with major psychiatric disorders in a Scottish family. Recently a comprehensive meta-analysis of genome-wide association scan data found no evidence that common variants of DISC1 (1q42.1) are associated with schizophrenia. Our aim was to test for association of variants in the 11q14.3 translocation region with schizophrenia. The 11q14.3 region was examined by meta-analysis of genome-wide scan data made available by the Genetic Association Information Network (GAIN) and other investigators (non-GAIN) through dbGap. P-values were adjusted for multiple testing using the false discovery rate (FDR) approach. There were no single-nucleotide polymorphisms (SNPs) significant (P %26lt; 0.05) after correction for multiple testing in the combined schizophrenia dataset. However, one SNP (rs2509382) was significantly associated in the male-only analysis with PFDR?=?0.024. Whilst the relevance of the (1;11)(q42.1;q14.3) translocation to psychiatric disorders is currently specific to the Scottish family, genetic material in the chromosome 11 region may contain risk variants for psychiatric disorders in the wider population. The association found in this region does warrant follow-up analysis in further sample sets.

• 出版日期2012-10