Neuropsychological intermediate phenotypes as tools for genetic studies in schizophrenia

2009 ◽  
Vol 42 (05) ◽  
Author(s):  
H Konnerth ◽  
I Giegling ◽  
AM Hartmann ◽  
J Genius ◽  
A Ruppert ◽  
...  
2013 ◽  
Vol 368 (1615) ◽  
pp. 20120380 ◽  
Author(s):  
Laura Bevilacqua ◽  
David Goldman

Impulsivity, defined as the tendency to act without foresight, comprises a multitude of constructs and is associated with a variety of psychiatric disorders. Dissecting different aspects of impulsive behaviour and relating these to specific neurobiological circuits would improve our understanding of the etiology of complex behaviours for which impulsivity is key, and advance genetic studies in this behavioural domain. In this review, we will discuss the heritability of some impulsivity constructs and their possible use as endophenotypes (heritable, disease-associated intermediate phenotypes). Several functional genetic variants associated with impulsive behaviour have been identified by the candidate gene approach and re-sequencing, and whole genome strategies can be implemented for discovery of novel rare and common alleles influencing impulsivity. Via deep sequencing an uncommon HTR2B stop codon, common in one population, was discovered, with implications for understanding impulsive behaviour in both humans and rodents and for future gene discovery.


Schizophrenia ◽  
2011 ◽  
pp. 289-310 ◽  
Author(s):  
Michael F. Egan ◽  
Tyrone D. Cannon

2011 ◽  
Vol 44 (06) ◽  
Author(s):  
M Friedl ◽  
I Giegling ◽  
AM Hartmann ◽  
H Konnerth ◽  
B Konte ◽  
...  

Schizophrenia ◽  
2007 ◽  
pp. 277-297 ◽  
Author(s):  
M.F. Egan ◽  
M. Leboyer ◽  
D.R. Weinberger

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
D. Rujescu ◽  
A. Hartmann ◽  
B. Schneider ◽  
A. Thalmeier ◽  
A. Schnabel ◽  
...  

Family and twin studies point towards a partial heritability of suicidal behavior. We investigated the role of a comprehensive set of genes in this behavior. Their selection was driven by results from post mortem and genetic studies. 250 suicide attempters with various psychiatric disorders were compared with 2200 volunteers which were randomly selected from the general population. All subjects were administered standard psychiatric interviews including SCID as well as self-report questionnaires for anger-related traits. Especially, aggressive-impulsive behavior has been studied and associations with these intermediate phenotypes will be presented.Additionally a large-scale gene expression analysis using cDNA-microarrays to identify new candidate-genes for suicide was conducted. We found several genes to be differentially expressed in the orbitofrontal cortex of suicide completers. Cross-validation experiments using quantitative RT-PCR validated a few genes so far. These genes have been genotyped in our patients and controls and associations with suicidal behavior and intermediate phenotypes, like aggression and impulsivity will be presented.


VASA ◽  
2015 ◽  
Vol 44 (5) ◽  
pp. 333-340 ◽  
Author(s):  
Christian Werner ◽  
Ulrich Laufs

Abstract. Summary: The term “LDL hypothesis” is frequently used to describe the association of low-density lipoprotein cholesterol (LDL-cholesterol, LDL-C) and cardiovascular (CV) events. Recent data from genetic studies prove a causal relation between serum LDL-C and CV events. These data are in agreement with mechanistic molecular studies and epidemiology. New randomised clinical trial data show that LDL-C lowering with statins and a non-statin drug, ezetimibe, reduces CV events. We therefore believe that the “LDL-hypothesis” has been proven; the term appears to be outdated and should be replaced by “LDL causality”.


2009 ◽  
Vol 42 (05) ◽  
Author(s):  
M Boxleitner ◽  
I Giegling ◽  
AM Hartmann ◽  
J Genius ◽  
A Ruppert ◽  
...  

1969 ◽  
Vol 08 (01) ◽  
pp. 07-11 ◽  
Author(s):  
H. B. Newcombe

Methods are described for deriving personal and family histories of birth, marriage, procreation, ill health and death, for large populations, from existing civil registrations of vital events and the routine records of ill health. Computers have been used to group together and »link« the separately derived records pertaining to successive events in the lives of the same individuals and families, rapidly and on a large scale. Most of the records employed are already available as machine readable punchcards and magnetic tapes, for statistical and administrative purposes, and only minor modifications have been made to the manner in which these are produced.As applied to the population of the Canadian province of British Columbia (currently about 2 million people) these methods have already yielded substantial information on the risks of disease: a) in the population, b) in relation to various parental characteristics, and c) as correlated with previous occurrences in the family histories.


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