Ontology highlight
ABSTRACT:
SUBMITTER: Colasanti A
PROVIDER: S-EPMC3820042 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Colasanti Alessandro A Owen David R DR Grozeva Detelina D Rabiner Eugenii A EA Matthews Paul M PM Craddock Nick N Young Allan H AH
Psychoneuroendocrinology 20130812 11
TSPO mediated transport of cholesterol into the mitochondrion is a necessary step in steroid synthesis. The rs6971 polymorphism in the TSPO gene causes an amino acid substitution (Ala147Thr) within the transmembrane domain where the cholesterol-binding pocket is located, and has been shown to affect the steroidogenic pathway. We report a nominal association between this TSPO polymorphism and the diagnosis of Bipolar Disorder in both the genome-wide dataset of the Wellcome Trust Case-Control Cons ...[more]