All polymorphisms studied in this paper [PMID: 20037209] , total : 6 polymorphisms

Title : Genetic factors associated with rheumatoid arthritis and systemic vasculitis: Evaluation of a panel of polymorphisms.

Abstract : Immune and inflammatory response activation is a common feature of connective tissue diseases and systemic vasculitis. The aim of our study was to evaluate the possible involvement of TNFalpha c.-308A > G, IL-10 c.-1082A > G, uteroglobin c.38A > G, TGFbeta 1 c.869C > T and NFkappaB2 c.-1837T > C gene polymorphisms in susceptibility to connective tissue diseases. Our study cohort included 68 unrelated patients affected by rheumatoid arthritis (RA) (37 patients) and ANCA-positive [micropolyangiitis (mPA) 17 patients] or ANCA-negative systemic vasculitis [including 8 patients with Henoch-Schonlein purpura (HSP) and 6 patients with mixed cryoglobulinaemia (MC)] as well as 98 control subjects. Allele frequency analysis of uteroglobin c.38G > A polymorphism showed a significant increase in the c.38A allele in patients (p= 0.002). Genotype frequency analysis of uteroglobin and NF-kappaB2 gene polymorphisms in patients showed an increase in c.38GA and c.38AA genotypes in the uteroglobin gene (p=0.02) coupled with an increase in homozygous c.-1837CC in the NF-kappaB2 gene (p=0.02). Our data suggest that genetic variation in UG and NF-kappaB2 pathways could have effects in connective tissue disease susceptibility.

Author : Menegatti E,Davit A,Francica S,Berardi D,Rossi D,Baldovino S,Tovo PA,Sena LM,Roccatello D,

Source : Dis Markers. 2009;27(5):217-23. doi: 10.3233/DMA-2009-0666.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs1800629	TNF	7124
2	rs1800896	IL10	3586
3	NA	SCGB1A1	7356
4	rs1982073	TGFB1	7040
5	NA	NFKB2	4791
6	NA	IL1RN	3557