Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics

Table 5 Class characterization summary ^a

Analysis	Characterization	Description	Class 1	Class 2	P-val^e
Dura	Biological^b	Dorso-ventral axis formation	3/3 Up	3/3 Down	0.001
		Pathways in cancer	4/6 Up	4/6 Down	0.031
	Radiological^c	Area3	Larger	Smaller	0.006
		Supraoccipital bone	Larger	Smaller	0.006
		Opisthion to reference	Larger	Smaller	0.046
	Clinical	NA	NA	NA	NA
Blood	Biological^b	Ribosome	10/10 Up	10/10 Down	2.80E-09
		Spliceosome	5/6 Up	5/6 Down	0.005
		Proteosome	3/3 Up	3/3 Down	0.007
		RNA degradation	2/3 Up	2/3 Down	0.014
		Oxidative phosphorylation	2/4 Up	2/4 Down	0.018
	Radiological^c	Boogaard’s angle	Smaller	Larger	0.004
		Basion to reference	Larger	Smaller	0.016
		Tentorium	Smaller	Larger	0.036
	Clinical^d	Paternal age	Younger	Older	0.021

^aOnly nominally significant results are shown. In addition, only the two most significant clustering analyses were included in the table.
^bThe top 100 ranked genes from each analysis were used as input into DAVID v6.7 for the pathway analysis. KEGG pathways with a Fisher exact p < 0.05 are listed. Additional filtering was applied using DAVID's default settings: minimum of 2 genes present in the pathway and an EASE score < 0.1. For each class, the total number of genes present in each pathway and whether they are down- or up-regulated with respect to the other class are noted.
^cLogistic regression was carried out including age at MRI, sex, and race as covariates in the model.
^dA t-test assuming equal variance was performed.
^eThese are not adjusted for multiple testing.

ISSN: 1755-8794