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Association studies © SPMM Course the disease this will be detectable as increased allele sharing at the marker. This approach has been successful in identifying susceptibility loci for disorders such as type 1 diabetes. The main drawback is that susceptibilit...

Linkage vs. association

C. Alternative approaches in genetic studies © SPMM Course Linkage vs. association Linkage studies Association studies Uses families Uses cases and controls or families with ‘internal controls’ Detectable over large distances >10cM Detectable only over small d...

13. Psychiatric genetics

A. Causal models © SPMM Course memory defects, information processing defects such as prepulse inhibition, smooth pursuit defects, glial cell changes and certain other putative neurocognitive markers are termed as probable endophenotypes for schizophrenia. To ...

B. Genetics of Schizophrenia © SPMM Course B. Genetics of Schizophrenia How important is the genetic contribution to schizophrenia? The relative risks for first-degree relatives / twins of probands are higher than relative risks due to any individual environme...

C. Genetics of Mood disorders

Bipolar disorder © SPMM Course  Murray et al. (2002) point out a number of studies that have shown a higher familial risk to be associated with earlier age of onset. Sham et al. (1994) showed that the morbid risk of schizophrenia is greater among the relative...

Unipolar depression (MDD)

Schizoaffective disorder

Molecular associations (Schizophrenia and Bipolar disorder) © SPMM Course Other implicated chromosomes –  Chr 18 - nearly 4 loci, affective disorders in general;? parent of origin effect)  Chr 21q - both in scz and BPAD.  An X-chromosomal locus to BPAD has ...

D. Genetics of dementias © SPMM Course been postulated to be associated with decreased neurogenesis in the hippocampus, which is dependent on neurotrophic factors, including BDNF.  Disrupted in Schizophrenia 1 (DISC1): This gene on chromosome 1q was identifie...

Frontotemporal dementia © SPMM Course ApoE status unknown (general population) 6.3% 12% No Apo 4 4.6% 9.3% 0.75 times (less) Apo 4 heterozygote 12% 23% 3.2 times (up to 5 times in some studies) Apo 4 homozygote 35% 53% 14.9 times Modified from McGuffin et al. ...

Lewy Body dementia

E. Other disorders

Autism © SPMM Course Lewy Body dementia No specific genetic associations have been established for Lewy Body Dementia. Certain mutations have been reported inconsistently at alpha-synuclein locus. DLB is considered as a part of ‘synucleinopathies’ where synucl...

ADHD

Personality disorders