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Table 6 Global functional analysis: Enrichment of high level functions represented in datasets of differentially expressed genes across 5 sets of monozygotic twins

From: Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes

High level function

Significance◆ (× 102) of enrichment of top five high level functions

 

Twin sets

 

361/360

809/810

2369/2368

2595/2596

2597/2598

Nervous system development and function

0.008–3.85 (6/19)*

0.12–2.55 (3/7)

0.81–4.79 (5/33)

0.12–4.39 (12/50)

0.02–4.53 (7/26)

Tissue morphology

0.008–4.27 (8/19)

NA¶ (0/7)

0.81–4.79 (8/33)

0.08–4.38 (18/50)

0.51–4.03 (4/26)

Cell death

0.01–4.27 (8/19)

3.74 (1/7)

0.09–4.79 (4/33)

0.18–4.65 (12/50)

0.09–4.53 (6/26)

Cellular development

0.01–4.27 (6/19)

NA (0/7)

0.81–4.79 (4/33)

0.12–4.39 (8/50)

0.03–3.54 (6/26)

Immune and lymphatic system development and function

0.03–3.85 (9/19)

NA (0/7)

0.81–4.79 (10/33)

0.33–4.39 (17/50)

0.19–4.03 (9/26)

  1. Global functional analysis of differential gene expression across 5 sets of monozygotic autistic twins (each pair identified by blood sample numbers (eg., 361/360) who are discordant with respect to severity of autism or language impairment) was performed using Ingenuity's Pathways Analysis Software.
  2. ◆ Significance calculated for each function is an indicator of the likelihood that the high level function is associated with the dataset by random chance. The p-value, which is calculated using the right-tailed Fisher's Exact Test, compares the number of user-specified genes of interest (in this case, differentially expressed genes with a log2(ratio) cutoff ≥ ± 0.58) that participate in a given function or pathway to the total number of occurrences of these genes in all functional/pathway annotations stored in the Ingenuity Pathways Knowledge Base. It is noteworthy that genes related to nervous system development and function rank first among the top 5 out of 74 high level functions identified in lymphoblastoid cell lines on the basis of differentially expressed genes across 5 sets of twins with autism spectrum disorders. The range of significance values for each high level function relates to the different significance values for specific subfunctions within the category.
  3. *(number of differentially expressed genes in functional category/total number of differentially expressed network focus genes with identifiable "high level function" across 5 datasets)
  4. ¶ NA: no significance value for this function within the dataset for this pair of twins
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BMC Genomics

ISSN: 1471-2164

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