TRAF1/C5 rs3761847 SNP Is Associated with Severe Pattern of Rheumatoid Arthritis in Greek Patients

Alexandros Sarantopoulos,Ioannis Theodorou,Panagiota Boura

doi:10.4236/ojra.2016.61002

Abstract

The era of whole genome study analysis has introduced a profound research in the genetics of autoimmune diseases. Some of the new genetic loci that have been associated with the development or the severity of autoimmune diseases have been thoroughly studied, conferring a more detailed understanding of disease pathophysiology. Furthermore, single nucleotide polymorphisms (SNPs) have been described not only in coding regions of the human genome but also in non-coding areas (introns), the importance of which has not been yet clarified. Over the last years, such an SNP has been associated with the development of rheumatoid arthritis, the most frequent autoimmune disease. This SNP is at the position 122730060 of chromosome 9 in the TRAF1/C5 region and consists of a substitution of the nucleotide base guanine (G)—which is considered the ancestral phenotype— by alanine (A). It has been indicated that G is the aggravating nucleotide, and that G/G is the disease predisposing phenotype, conferring >1.3× risk for RA. On this background, we performed a genome study on a Greek population of northern Greece (Macedonia) in order to identify the association of this SNP with RA in our group.

Highlights

Rheumatoid Arthritis (RA) is the most frequent systemic autoimmune disease, affecting approximately 1% ofHow to cite this paper: Sarantopoulos, A., Theodorou, I. and Boura, P. (2016) TRAF1/C5 rs3761847 single nucleotide polymorphisms (SNPs) Is Associated with Severe Pattern of Rheumatoid Arthritis in Greek Patients
The whole genome scan era has permitted the identification of single nucleotide polymorphisms (SNPs) that predispose to the development of RA but no further studies have been conducted to reveal any possible susceptibility of these genetic loci with pattern of disease
The primary target of our study was to investigate whether findings indicating a correlation of rs3761847SNP to RA manifestation, conducted in Northern Europe and American population [1], had a similar burden on Greek patients, since it is known that Greek patients differ genetically from northern Europe populations in regard to genomic profile associated to RA [2]

Summary

Introduction

Rheumatoid Arthritis (RA) is the most frequent systemic autoimmune disease, affecting approximately 1% ofHow to cite this paper: Sarantopoulos, A., Theodorou, I. and Boura, P. (2016) TRAF1/C5 rs3761847 SNP Is Associated with Severe Pattern of Rheumatoid Arthritis in Greek Patients. Rheumatoid Arthritis (RA) is the most frequent systemic autoimmune disease, affecting approximately 1% of. (2016) TRAF1/C5 rs3761847 SNP Is Associated with Severe Pattern of Rheumatoid Arthritis in Greek Patients. The 2010 EULAR/ACR (European League Against Rheumatism/American College of Rheumatology) diagnostic criteria can set the diagnosis in an early stage of RA, providing access of RA patients to available conventional synthetic or biological Disease Modifying Anti-Rheumatic Drug (DMARD) therapy. TNFα blockade application in clinical practice has imposed an immense investigation on determining biomarkers that could predict better response to treatment in Rheumatoid Arthritis patients. Economic burden of anti-TNFα treatment poses persistently the identification of response predictors in order to better apply individualized treatment

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