Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder
Author Information
Author(s): Yang Shuzhang, Wang Kai, Gregory Brittany, Berrettini Wade, Wang Li-San, Hakonarson Hakon, Bucan Maja
Primary Institution: University of Pennsylvania
Hypothesis
Can analysis of chromosomal copy number variants (CNVs) in extended families provide insights into the genetic susceptibility of bipolar disorder?
Conclusion
The study identified 50 CNV regions in an Amish family, with 58% associated with changes in gene expression, suggesting a complex genetic basis for bipolar disorder.
Supporting Evidence
- Identified 50 CNV regions in a three-generation Amish family.
- 58% of tested CNVs were associated with expression changes in genes.
- Study suggests family-based analysis can reveal genetic factors in mental disorders.
Takeaway
Researchers looked at DNA from a big family to find tiny changes that might help explain why some people get bipolar disorder.
Methodology
Used high-density SNP genotyping to identify CNVs in a three-generation Amish family and analyzed their effects on gene expression.
Potential Biases
Potential bias due to the genetically isolated nature of the Amish population.
Limitations
The study had a relatively small sample size and used cell lines instead of brain tissues for expression analysis.
Participant Demographics
The study involved 51 individuals from a three-generation Old Order Amish family, including 19 affected by affective disorders.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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