Genetic determinants of rheumatoid arthritis: the inducible nitric oxide synthase (NOS2) gene promoter polymorphism

Abstract

An association study and a linkage analysis were carried out in parallel in

Preliminary evidences of a NOS2A protective effect from Relapsing–Remitting Multiple Sclerosis

“…Interestingly, in the present study we reported a different distribution of subjects carrying at least one (CCTTT) 14 allele between RRMS patients and controls, suggesting that it could exert a protective role against MS, for example by producing high levels of NO that limit the Th1 lymphocyte responses [35].…”

“…On the subject of NOS2A gene, a significant transcription effect of the highly polymorphic (CCTTT) n promoter marker has been hypothesized [34]; particularly the 14-repeat allele displayed an higher activity in the reporter gene expression when compared to the other alleles, resulting into an overproduction of iNOS in response to exogenous stimuli as viruses and bacteria [27,35]. Subjects carrying the (CCTTT) 14 allele have been reported potentially protected from autoimmune diseases like diabetes [34] and rheumatoid arthritis [35].…”

“…Subjects carrying the (CCTTT) 14 allele have been reported potentially protected from autoimmune diseases like diabetes [34] and rheumatoid arthritis [35]. The iNOS expression is mainly controlled at the transcription level in almost all cell type, and it can be induced either by an appropriate combination of cytokines or by endotoxins.…”

Genetic Polymorphisms Modifying Oxidative Stress Are Associated with Disease Activity in Rheumatoid Arthritis Patients

“…An association of the number of CCTTT repeats in the NOS2A promoter with a higher risk for RA was observed previously [23,24] but no study investigated the association of this (CCTTT) n repeat with RA activity. In our study NOS2A (CCTTT) n was not significantly associated with disease activity however, the influence of NOS2A (CCTTT) n on the risk for RA was not tested.…”

NOS2A promoter (CCTTT)n association with TB lacks independent functional correlation amongst Indians

“…Variations in promoter region of NOS2A have been proposed of critical importance in genetic association studies of diseases, such as severe malaria [37], rheumatoid arthritis [38], Parkinson's disease [39], inflammatory bowel disease [40] etc. These variations have collectively shown their potential in differential expression of NOS2A.…”