Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission

Table 2 Dysregulated genes from patients in relapse and remission encoded in genomic regions associated with MS.

Chromosomal Region Associated with MS	Genes Upregulated in Relapse	Genes Downregulated in Relapse
5q33¹	SOX30	0
17q23¹	FTSJ3, USP32, MRC2, TLK2, PRKAR1A	SMARCD2, HAN11WD
19p13¹	CD97, HOMER3, THRAP5, ILF3, OAZ1, AES, FUTC, SAFB, C19ORF6, ARHGEF18, SF4, GADD45B, CYP4F12	RGS19IP1, DHPS, MGC11271, KLF1, GCDH, FLJ90396, AZU1, FARSLA, KHSRP, TRIP10, ILVB1, ANGPTL4, NDUB7, NDUFA, MADCAM17
11q23 (D11S1986) ²	0	0
19q13.2 (D19S552) ²	TGFB1, CEACAM1, GMF	0
20p12 (D20S894) ²	0	0
IMSGC³	TAF1A	FHIT, DBC1
	Genes Upregulated in Remission	Genes Downregulated in Remission
5q33¹	0	0
17q23¹	0	0
19p13¹	0	0
11q23 (D11S1986) ²	SDHD, CASP1, SIAT4C, APLP2	MGC2574, CD3E, RARRES3, CD3G, MTVR1, PCSK7
19q13.2 (D19S552) ²	CEACAM4, VASP	PSG6, HNRPUL1, PVR, EIF3S12
20p12 (D20S894) ²	0	0
IMSGC³	CD58	FHIT

Chromosomal regions are those identified as associated by Sawcer et al (2005)¹ [27] from the family study or by the GAMES collaboration (2006)² [26] using microsatellites (as marked) in a case/control study, and from the IMSGC SNP based genome wide analysis³ [10]. Genes are from the set of genes dysregulated in relapse and remission. Highlighted genes have been associated with MS in replication cohorts.

ISSN: 1471-2350