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Clinic-genetic aspects of the rheumatoid arthritis


Author: Osman Hajawi
Degree:doctor of medicine
Speciality: 14.00.06 - Cardiology and Reumatology
Year:2006
Scientific adviser: Liliana Groppa
doctor habilitat, professor, Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova
Scientific consultant: Nicolae Barbacar
doctor habilitat, professor, Institute of Genetics, Physiology and Plant Protection of the ASM
Institution:
Scientific council:

Status

The thesis was presented on the 21 December, 2005
Approved by NCAA on the 23 February, 2006

Abstract

Adobe PDF document – 0.40 Mb / in russian
Adobe PDF document – 0.38 Mb / in romanian

Keywords

rheumatoid arthritis, molecular markers, genetic predisposition, mutant alleles, rheumatoid factor, articulation destructions, genotype

Summary

The present study has been based on materials of investigation and observation of 100 patients with rheumatoid arthritis (RA) during 2001-2004 period in order to evaluate the clinic polymorphism traits and their correlation with genetic predisposition suggested by a few molecular markers of malady.

The performed explorations have estimated the presence of a series of molecular markers which can facilitate the genetic risk determination for RA evolution, primary being the interleukine-alpha gene, located on chromosome 2 (2q). Using the primers IL1R1A/ILR1B from structural segment of this gene thereby PCR the DNA patterns of blood of the RA patients on whom 2 alleles were determined: one normal (A) and another mutant (B), their incidence being as: in study group AA – 67,9%, AB – 25,4%, and BB – 6,7%; in control group (healthy) AA – 96,7%; AB – 3,3%, and BB – 0%. The incidence of mutant allele assessment is hence an important goal in examined patients, additionally to note that the disease on RA patients with genotype BB is developing earlier although the presence of allele B in AB and BB genotypes is emphasized as a risk factor for RA patients.

Underlined the role of the mitochondrial DNA repairing process disorder as a predictor of rheumatoid factor presence, author utilizing a set of mitochondrial DNA complementary primers mt DNA (forward)/mt DNA (reverse) has determined that repairing process alteration correlates with the presence of rheumatoid factor in explored patients. The investigations realized with primers of 3DQBAMP-A and 3DQBAM-O2B of HLA DQB1 gene have identified a DNA segment of 257 b.p. size and another of 100 b.p. size associated to mutant allele, although the last presence proposes RA development risks. Author concludes that the use of 3 pares of primers 1R1A/IL1R1B, mt DNA (forward)/mt DNA (reverse) and 3DQBAMP-A/3DQBAMP-2B – for molecular testing of DNA can be useful for RA genetic predisposition estimation, and the molecular markers regarding for this study are feasible for genetic investigation of patients whose clinical statement may be enclosed for rheumatoid arthritis diagnosis.