Genetic Variants in ERBB4 and Bipolar Disorder
Author Information
Author(s): Goes Fernando S., Rongione Michael, Chen Yun-Ching, Karchin Rachel, Elhaik Eran, Potash James B.
Primary Institution: Johns Hopkins School of Medicine
Hypothesis
Rare deleterious variants in ERBB4 are associated with bipolar disorder cases with mood-incongruent psychotic features.
Conclusion
The study found no rare variants of clear deleterious effect, but identified a novel variant that may affect alternative splicing of ERBB4.
Supporting Evidence
- The study identified 42 variants in the ERBB4 gene, with 16 being novel.
- One novel variant was found in 11.2% of cases and was associated with mood-incongruent psychotic bipolar disorder.
- The study suggests that the identified variant may affect splicing of ERBB4.
Takeaway
The researchers looked for rare genetic changes in a gene called ERBB4 in people with a specific type of bipolar disorder, but found mostly common changes instead.
Methodology
Sanger sequencing of all 28 exons in ERBB4 and part of the promoter and 3′UTR sequence.
Potential Biases
The study's design may have introduced bias by sequencing cases while only genotyping variants in controls.
Limitations
The sample size was relatively small, which may limit the ability to detect rare variants and increases the risk of type I error.
Participant Demographics
Participants were European-American individuals with bipolar disorder.
Statistical Information
P-Value
0.039
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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