-Written Assignment Unit -1

"University of the people" Department of Health Sciences

HS 4241 - Psychopathology and Mental Health

Instructor: Chinasa Eke-Mcclean

11-04-2023
 1. - Identification of Bipolar Disorder Trajectories (Meta-Analysis)

- Identification of biological pathways that contribute to the risk of developing bipolar

disorder Genes with coordinated evidence of multiple association globally.

2. It did not mention who the participants were. Only 5253 cases and 6874 controls were

mentioned, i.e. the total number is 12127.

« Introducing empirically important genes into the pathway analysis and then all these

pathways were selected in the replica sample

(N= 8396|3507 cases, 4889 controls|) Using gene set enrichment analysis for single

nucleotide polymorphisms. (Nurnberger et al., 2014)

« Collected actions:

Four independent datasets with individual genome-wide data available in July 2011 along

with all datasets contributed to the May 2012 Psychiatric Bipolar Genomics cohort. A

previous meta-analysis was used as the source for brain gene expression data. (Nurnberger et

al., 2014)

« How it was collected:

• Confirmation and evaluation: Each of the four individual datasets was previously described

and the results describing the recruitment and screening of participants were published for the

genetic association information network.

• Molecular methods: Participants in the four primary studies were genotyped using

microarrays and an SNPs strategy was used for SNPs.

• Simulation: Simulations were conducted to predict the global experimental false positive

error rate for this approach as a function of the number of unique polymorphisms in that

gene.
• Pathway identification: The final list of 226 genes was run according to standard innovation

pathway analysis.

• Pathway testing: The pathways identified in the creativity pathway analysis were tested on a

set of independent transcriptome datasets consisting of the complete set reported by the

GWAS cohort. (Nurnberger et al., 2014)

3. Results:

966 genes with at least 2 SNPs were identified in 3 groups out of 4, and 226 genes of interest

were detected and tested for pathway gene set analysis, using regression model (I did not add

it due to question requests, but it is on the site shown in Table 1) and it was predicted that 11

out of 226 One gina is likely a false positive and the other is likely a true positive.

(Nurnberger et al., 2014)

4. Conclusions:

In summary, 17 pathways were linked in an initial screen of GWAS data from 4 samples

totaling 5253 BP cases and 6874 controls, of which 6 pathways were vindicated in an

independent set of 3507 cases and 4889 controls. The identification of these pathways was

driven by genes involved in hormone regulation, calcium channel genes, genes involved in

second messenger systems, and glutamate receptor genes. Nine genes involved in the

pathway identification were also dysregulated in brain samples from cases with BP. In

addition to the functions described before, these included genes that are involved in neuronal

development. (Nurnberger et al., 2014)

5. In my opinion, this type of study can establish a large basis for showing the distribution

and spread of diseases and studying their effects and thus limiting them, and we can integrate

them with public health by training public health specialists to conduct large studies. It

occupies a great position among the international research teams, but it needs effort to unify
it, and this is what I hope the University of the People will do soon, and this will lead to the

emergence of the name of the University of the People among the research universities.

(Nurnberger et al., 2014)

Word Count: 529

Reference:

Nurnberger, J. I., Koller, D. L., Jung, J., Edenberg, H. J., Foroud, T., Guella, I., Vawter, M.

P., & Kelsoe, J. R. (2014). Identification of pathways for bipolar disorder. JAMA Psychiatry,

71(6), 657. https://doi.org/10.1001/jamapsychiatry.2014.176