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A deletion of two genes from the late cornified envelope (LCE), LCE3B and LCE3C within epidermal differentiation complex on chromosome 1 was shown to be associated with both psoriasis and psoriatic arthritis (PsA) in several populations. To assess whether this deletion may contribute to the genetic predisposition to PsA in Tunisia, a total of 73 patients with PsA and 120 healthy matched controls were screened for the deletion, LCE3C_LCE3B-del, and its tag SNP, rs4112788. We also evaluated a possible relationship between PSORS1 and LCE3C_LCE3B-del through genotyping two proxy markers to HLA-C (rs12191877 and rs2073048). Our results did not provide evidence for association between the LCE3C_LCE3B-del nor the rs4112788 and the PsA. Similarly, no significant epistatic effect was observed. Our data suggest that The LCE deletion, previously identified in patients with psoriasis, is not of a major importance in the development of PsA in Tunisian patients supporting the current perception that different genetic risk factors contribute to skin and joint disease. However, these results need to be confirmed by additional large-scale studies of Tunisian PsA patients and controls.

Background Rheumatoid arthritis (RA) is a chronic inflammatory disabling disease with significant impact on the quality of life (QOL) of patients. Health-related quality of life (HRQOL) issues are assuming increasing importance in chronic rheumatic diseases like RA. No data on QOL in RA is available from Tunisian patients. Objectives The aim of this study was to assess the HRQOL of Tunisian patients with RA and also to specify the influence of various parameters. Methods Consenting patients with rheumatoid arthritis (American College of Rheumatology criteria) were recruited at the Department of Rheumatology of the University Hospital “Farhat Hached”, Susah, Tunisia. Quality of life was assessed using a specific HRQOL measure:the Arthritis Measurement Scales 2-Short Form (AIMS2-SF).Disease activity was assessed by the Disease Activity Score (DAS28), functional disability by the Health Assessment Questionnaire (HAQ) and fatigue by a visual analogue scale (VAS). Extra-articular manifestations (ExRA) were diagnosed clinically. Results The study group comprised 200 patients.The mean agewas 51.6±12.4 years with a female predominance (83%). The mean duration of RA was 12,1±10 years. The mean DAS28, HAQ and VAS for fatigue were respectively: 4,8±1,8, 1,7±1,4 and 56,2±31,4. ExRA were present in 53% of patients. Rheumatoid Factor (RF) was positive in 80,5% of cases. The mean HRQOL scores of the patients were 3,8±2,3, 3,5±2,5, 4,5±2,6, 4,2±1,9 and 4,4±2,9 in the physical, symptom, psychological, social, and role components of the AIMS2-SF respectively. The psychological, social and role components were thereforethe components of quality of life most affected in our patients. Age, gender and rheumatoid factor positivity did not influence HRQOL. Disease duration was significantly correlated to the physical, symptom and role components. There was a significant inverse correlation of HAQ and fatigue with all five components of AIMS2-SF. There was a significant inverse correlation of DAS28 with the physical, the symptom, role and psychological components. Patients with ExRA scored significantly lower in the five components of AIMS2-SF. Multiple regression analysis showed that: HAQ independently affects all components of QOL, disease duration affects the physical and symptom components and fatigue affects the physical component. Conclusions RA has a detrimental effect on many areas of life including moods and emotions, social life, hobbies, everyday tasks, personal and social relationships and physical contact. Our study showed that HRQOL scores were lowest in the psychological, social and role components. Functional disability was the most important factor affecting QOL in RA. Disclosure of Interest None Declared