All polymorphisms studied in this paper [PMID: 18434448] , total : 13 polymorphisms

Title : Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis.

Abstract : OBJECTIVE: To examine genetic association between rheumatoid arthritis (RA) and known polymorphisms in core genes of the nuclear factor (NF)kappaB pathway, the major intracellular pathway in RA pathogenesis. METHODS: Discovery and replication sample sets of Spanish patients with RA and controls were studied. A total of 181 single nucleotide polymorphisms (SNPs) uniformly spaced along the genomic sequences of 17 core genes of the NFkappaB pathway (REL, RELA, RELB, NFKB1, NFKB2, NFKBIA, NFKBIB, NFKBIE, IKBKA, IKBKB, IKBKE, IKBKAP, KBRAS1, KBRAS2, MAP3K1, MAP3K14, TAX1BP1) were studied by mass spectrometry analysis complemented with 5'-nuclease fluorescence assays in the discovery set, 458 patients with RA and 657 controls. SNPs showing nominal significant differences were further investigated in the replication set of 1189 patients with RA and 1092 controls. RESULTS: No clear reproducible association was found, although 12 SNPs in IKBKB, IKBKE and REL genes showed significant association in the discovery set. Interestingly, two of the SNPs in the IKBKE gene, weakly associated in the discovery phase, showed a trend to significant association in the replication phase. Pooling both sample sets together, the association with these two SNPs was significant. CONCLUSION: We did not find any major effect among the explored members of the NFkappaB pathway in RA susceptibility. However, it is possible that variation in the IKBKE gene could have a small effect that requires replication in additional studies.

Author : Dieguez-Gonzalez R,Akar S,Calaza M,Perez-Pampin E,Costas J,Torres M,Vicario JL,Velloso ML,Navarro F,Narvaez J,Joven B,Herrero-Beaumont G,Gonzalez-Alvaro I,Fernandez-Gutierrez B,de la Serna AR,Carreno L,Lopez-Longo J,Caliz R,Collado-Escobar MD,Blanco FJ,Fernandez-Lopez C,Balsa A,Pascual-Salcedo D,Gomez-Reino JJ,Gonzalez A,

Source : Ann Rheum Dis. 2009 Apr;68(4):579-83. doi: 10.1136/ard.2007.087304. Epub 2008 Apr 23.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs9694958	IKBKB	3551
2	rs2272733	IKBKB	3551
3	rs12676482	IKBKB	3551
4	rs1800470	TGFB1	7040
5	rs3136717	POLB	5423
6	rs17433909	IKBKE	9641
7	rs2151222	IKBKE	9641
8	rs17434047	IKBKE	9641
9	rs3748022	IKBKE	9641
10	rs6545835	REL	5966
11	rs842647	REL	5966
12	rs3732179	REL	5966
13	rs6474388	IKBKB	3551