Complex Disorders Flashcards
1
Q
Large GWAS sample sizes must be used for schizophrenia combining sets of meta analyses
Y - significance if more than 10-8
X- SNP locus (chromosome)
A
If GWAS is statistically significant variants still only makes a small contribution
2
Q
CNVs have a role in disease in complex disorders
Possible structural rearrangements deletion duplication 0,1,3
A
CNV facts- 5-25% genome CNVs Most harmless polymorphisms Some contribute to disease CNVs often famlies paradox Stronger effects than SNPs but still not cause, just INCREASED RISK Useful in schizophrenia autism
3
Q
Chromosome abnormalities contribute largely to autism
Some CNVs identified in multiple individuals
16p CNVs in autism
Most down to unknown causes
A
H
4
Q
Twin studies - genetic contribution not environment)
Epidemiology useful
A
She
5
Q
GWAS genome wide association study
A
If SNPs in genes are associated with disease
Manhattan plots