rs7695937

PhD thesis investigating genome-wide transcriptional and methylomic consequences of a balanced t(1;11) chromosomal translocation linked to schizophrenia, bipolar disorder, and major depression. DNA methylation profiling in 41 family members identified differential methylation at translocation breakpoint regions (chromosomes 1 and 11) and genes related to psychiatric disorders and neurodevelopment. Gene expression analysis in lymphoblastoid cells (13 family members) and iPSC-derived neurons (6 individuals) identified SORL1 as a candidate gene, with follow-up functional analysis in Disc1 L100P mouse model and epistasis studies in human GWAS data.

This PhD thesis investigates the genome-wide transcriptional and methylomic consequences of a balanced t(1;11) translocation linked to schizophrenia, bipolar disorder, and major depressive disorder in a Scottish family. DNA methylation profiling in 41 family members revealed significant differential methylation at translocation breakpoint regions on chromosomes 1 and 11, with pathway enrichment for psychiatric and neurodevelopment-related genes. Gene expression analysis in 13 family members identified SORL1 (Sortilin gene family) as a candidate gene; however, no genome-wide significant differential expression was detected, and subsequent investigations of DISC1-Sortilin interactions in a mouse model and GWAS data yielded no significant epistatic interactions.