Massively parallel sequencing of exons and promotor regions of 451 candidate genes in Bipolar Disorder and Major Depressive Disorder
- Authors
- Rodriguez Proa?o, Carla Geovanna
- Format
- MasterThesis
- Status
- publishedVersion
- Description
Mentally ill patients have a high mortality rate, which is associated with their disease as well as with their way of life, including suicides. For this study, forensic pathologists and geneticists collaborate to detect disease-related variants in mental disorders. In this post-mortem genetic analysis, we analysed Danish patients, who suffered from bipolar and major depressive disorders and were autopsied at a forensic setting in order to discover variants that may be related with the disease in exons and promotor regions of 451 genes, and assess their association with the disorders. Sixty cases (46 major depressive disorder ? MDD and 14 bipolar disorder ? BPD) were screened, and 1,965 Controls were selected from the 2,000 Danish Exomes Project database. Blood from the cases was sampled during forensic routine autopsies, and DNA was extracted and enriched by target capture. Genomic libraries were sequenced on a MiSeq. Sequences were mapped to the human genome, and variants were called. Associations between the variants and disease status were tested by Fisher?s exact test. We identified six genetic variants associated with both MDD and BPD. rs199713478, rs14828100, and rs62384463 located in PCDHA8, rs10067182 in PCDHA7, rs664837 in PCDHA6, and rs3816334 in GIGYF2.
- Publication Year
- 2015
- Language
- eng
- Topic
- GEN?TICA
BIOINFORM?TICA
BIOLOG?A MOLECULAR
BIOLOG?A MOLECULAR
- Repository
- Repositorio SENESCYT
- Rights
- openAccess
- License