An Exploratory Study of Endophenotype Markers for Schizophrenia

Abstract

Genetic studies of schizophrenia have often been frustrated by the aetiological and pathological complexity of the disorder. One research strategy to address this issue is the use of endophenotype markers. The aim of this PhD thesis is to explore the validity of selected candidate endophenotype markers for schizophrenia by establishing the evidence that they may have some or indeed any relationship with the genetic risk for the disorder. I have studied a unique twin and family population, to describe the distribution of a variety of deficits as candidate markers in patients, their unaffected co-twins and relatives, and healthy controls, to explore the evidence for genetic and environmental influences on their distribution. I selected neurological soft signs, personality and social development, grey and white matter cerebral volumes, and regional neural activity during a phonological verbal fluency task. The results were most compelling for the developmental and verbal fluency markers, supporting their role as endophenotype markers. In comparative terms, this may relate more to methodological factors, than the markers inherent properties. All of the markers demonstrated that they met many endophenotype criteria.

Date of Award	Jul 2012
Original language	English
Awarding Institution	King's College London
Supervisor	Philip McGuire (Supervisor) & Robin Murray (Supervisor)