Polymorphism of the DNA repair gene XDP increases the risk of systemic lupus erythematosus but not multiple sclerosis in the Iranian population.

BACKGROUND: Xeroderma pigmentosum group D ( XPD ) is an essential component of the nucleotide excision repair (NER) pathway, which can play a major role in DNA repair processes. A deficiency in this pathway was suggested as a causative factor of autoimmune diseases. Therefore, the current study aimed to investigate the relationship between XPD Lys751Gln polymorphism (rs13181) as one of the most common XDP polymorphisms and the risk of two important auto-immune diseases,namely systemic lupus erythematosus (SLE) and multiple sclerosis (MS) in the Iranian population. METHODS: 165 SLE patients and 165 age- and gender-matched healthy controls, and 150 MS patients and 150 age- and gender-matched healthy controls were genotyped for XPD rs13181 A/C polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: The results of the present study have indicated that both C allele frequency ( P = 0.012; odds ratio: 1.5; 95% confidence interval: 1.1-2.07) and CC genotype ( P = 0.007; odds ratio: 2.46; 95% confidence interval: 1.2-4.7) in SLE patient were significantly higher than those in control group. Furthermore, there were no significant differences between MS patients and normal subjects concerning the genotype and the allele frequencies. CONCLUSION: Our findings suggested that XPD rs13181 A/C polymorphism may be a crucial risk factor for the development of SLE but not MS in Iranian patients.

Changes in serum levels of Apo AIV in patients with newly diagnosed hyperthyroidism and hypothyroidism: a preliminary study.

OBJECTIVES: Apolipoprotein AIV has a role in chylomicrons and lipid secretion and catabolism. Also, Apo-AIV plays a role in the regulation of appetite and satiety. Previous studies on rats have shown that hyperthyroidism and hypothyroidism are associated with significant changes in Apo-AIV serum levels. There has been no research on serum Apo-AIV changes in hyper and hypothyroidism in humans. METHODS: This case-control study was performed on new patients with hyper and hypothyroidism. Eighteen patients with hyperthyroidism and 18 patients with hypothyroidism enrolled in the study. After 12 weeks treatment blood samples were recruited. If euthyroidism was achieved, serum Apo-AIV level was measured. Eighteen euthyroid healthy individuals without thyroid disease were chosen as the control group from general population. RESULTS: Serum levels of Apo-AIV before treatment in hypothyroidism, hyperthyroidism and in the control group were 85.61, 110.66 and 33.51 mg/dL respectively (p<0.001), which was significantly higher in hyperthyroid patients than hypothyroidism and control group. In patients with hyperthyroidism there was a significant decrease in serum levels of Apo-AIV after treatment (p=0.044). However in hypothyroidism a non-significant elevation in serum levels of Apo-AIV was observed (p=0.403). Furthermore, serum levels of Apo-AIV after treatment were significantly higher in both hyperthyroidism and hypothyroidism in comparison to control group (p<0.001). CONCLUSIONS: The results of this study for the first time showed that the serum level of Apo-AIV is increased in patients with hyperthyroidism and is decreased in patients with hypothyroidism, and after treatment, there was a significant difference with the control group.

Health-care access and utilization among individuals with low back pain in Iran: a WHO-ILAR COPCORD study.

BACKGROUND: Low back pain (LBP) is a major contributor to chronic pain and disability. The purpose of this study was to evaluate health-care access and utilization among patients with LBP in Iran. We also sought to study the pattern and characteristics of care-utilization behavior in these patients. METHODS: Data from the Community Oriented Program for Control of Rheumatic Diseases (COPCORD) were used for this study. Three cities (Zahedan, Sanandaj, Yazd) were selected to represent the Iranian population, with different socioeconomic status and ethnic, cultural, and religious background. Demographic data, acute or chronic LBP, disability index, and utilizing care from conventional medicine (CM), allied health providers (AHP), and complementary and alternative medicine (CAM) providers were recorded. RESULTS: Of 9101 patients, 38.6% reported LBP. Only 3.3% did not utilize care of any kind, 66.7% referred to CM providers, 20.8% to AHP, and 9.2% to CAM care. Health-care utilization was higher in female patients, older age, higher education, and higher disability index. CONCLUSIONS: The findings of this study indicate a high rate of health-care utilization among patients with LBP in Iran. CM is the most prevalent health-care resource sought by patients. These findings could be used as a framework in developing more efficient health-care programs according to the needs of specific populations.

Effects of dehydroepiandrosterone on quality of life in premenopausal women with rheumatoid arthritis: A preliminary randomized clinical trial.

AIM: Chronic inflammation and subsequent use of glucocorticoids can lead to relative adrenocortical insufficiency in patients with rheumatoid arthritis (RA). Previously, adrenocortical hormone, dehydroepiandrosterone (DHEA) was shown as a potential therapy for autoimmune disorders. However, data regarding effects of DHEA in RA are limited. The aim of this study was to investigate the effects of DHEA on quality of life (QOL) in premenopausal rheumatoid arthritis patients. METHOD: In this randomized double blinded, controlled trial 46 premenopausal rheumatoid arthritis patients were assigned to receive 50 mg/d DHEA (23 patients) or placebo (23 patients) for 12 weeks. Disease Activity Score of 28 joints - erythrocyte sedimentation rate (DAS28-ESR) questionnaire, visual analog score and swollen and tender joint counts (both 0-28) were used for assessment of disease activity. Persian-validated World Health Organization Quality of Life Brief version (WHOQOL BREF) questionnaire was used to assess quality of life. RESULTS: In comparison to the control group more improvement in QOL (P = .025) and environment health (P = .001) was observed in the DHEA group. After adjustment for age and disease duration DHEA was associated with more improvement in QOL (P = .01), psychological (P = .02) and physical health (P = .03). A trend toward a decrease in ESR was observed in DHEA group (P = .06). DAS was improved in both groups; however, there was no significant change in DAS28 between groups (P = .88). Frequency of adverse events albeit minor was similar in both groups. CONCLUSION: Our study supports a slightly superior effect of DHEA over placebo to improve QOL in premenopausal female patients with rheumatoid arthritis. We did not find improvement in DAS in the DHEA group over placebo.

The Impact of TRAIL (C1595T and G1525A) and DR4 (rs20576) Gene Polymorphisms on Systemic Lupus Erythematosus.

Apoptosis dysregulation is a distinct hallmark of several disorders like systemic lupus erythematosus (SLE). In fact, SLE has two special features for apoptosis: irregular apoptosis and decline in clearing of apoptotic bodies. Tumor Necrosis Factor (TNF)-Related Apoptosis-Inducing Ligand (TRAIL) is a death ligand that causes to apoptosis via attaching to its receptors such as death receptor-4 (DR4). The present study aimed to evaluate the effects of TRAIL G1525A and C1595T and DR4 A683C (rs20576) gene polymorphisms on SLE development. 160 SLE patients and 160 healthy individuals as the control group participated in the study. Genotype analysis was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). With regard to TRAIL (C1595T) polymorphism, the frequency of CT genotype was significantly higher in the case group than the control with 3-fold increase in SLE development risk (P = 0.0001). Furthermore, the frequency of the TT genotype also was higher in the case group than the control group with 3.2-fold increase in SLE development risk. The allelic distribution analysis defined the T allele as a risk factor for SLE development (P = 0.0001). The frequency of AA genotype and allele A of TRAIL (G1525A) polymorphism also was statistically higher in the case group than the control group (P = 0.0001). There was no significant association between DR4 rs20576 polymorphism and SLE development. TRAIL C1595T and G1525A gene polymorphisms are suggested as the risk factors for SLE development, although the results showed no association between DR4 rs20576 polymorphism and SLE.

Association between COX-2 and 15-PGDH polymorphisms and SLE susceptibility.

AIMS: Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease. Prostaglandins E2 (PGE2), the product of the cyclo-oxygenase 2 (COX-2) enzyme, has critical roles in the etiology of autoimmune diseases. PGE2 level is controlled by a balance between its synthesis mediator (COX-2 enzyme) and its catabolic key enzyme (15-hydroxyprostaglandin dehydrogenase [15-PGDH] enzyme). In the present study, the associations of genotypic polymorphisms in COX-2 and 15-PGDH with SLE were investigated. METHODS: One hundred and sixty SLE patients and 160 healthy controls participated in the study. The polymerase chain reaction - restriction fragments length polymorphism method was used for genotyping. The COX-2 rs2745557 G/A and 15-PGDH rs8752 G/A polymorphisms were investigated. RESULTS: Regarding the COX-2 rs2745557 single nucleotide polymorphism, there was no significant association between COX-2 rs2745557 polymorphism and SLE. However, the dominant models showed a marginally significant relation (P = .048, odds ratio = 0.63, 95% CI = 0.4-1.0). Regarding GA genotype of 15-PGDH rd8752 polymorphism, there was a significant difference between two groups with a 4.5-fold increase in SLE development (P = .0001). The frequency of the A allele was higher in SLE patients than that in controls, showing a 1.4-fold increase in SLE development (P = .018). CONCLUSION: All results showed the protective effects of the dominant model of COX-2 rs2745557 polymorphism and risk factor of 15-PGDH rs8752 polymorphism on SLE development.

Vitamin D Receptor rs2228570 and rs731236 Polymorphisms are Susceptible Factors for Systemic Lupus Erythematosus.

BACKGROUND: The Vitamin D receptor (VDR) polymorphisms are the candidate genetic variants for susceptibility to different disease including autoimmune disorders. In the present study, we aimed to assess the association between VDR polymorphisms and systemic lupus erythematosus (SLE) susceptibility in Southeast Iranian population. MATERIALS AND METHODS: One hundred and twenty-seven patients with SLE and 139 controls were genotyped for VDR rs2228570, rs731236, and rs7975232 polymorphisms using polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The VDR rs2228570 polymorphism was associated with higher risk of SLE in codominant, dominant, and overdominant models. Moreover, higher risk of SLE was observed in individuals with VDR rs731236 polymorphism in codominant, dominant, overdominant, and allelic models. The tAf haplotype of rs731236/rs7975232/rs2228570 polymorphisms was associated with higher risk of SLE. CONCLUSION: In conclusion, VDR rs2228570 and rs731236 polymorphisms and tAf haplotype were associated with SLE risk.

Baseline levels determine magnitude of increment in 25 hydroxy vitamin D following vitamin D3 prescription in healthy subjects.

INTRODUCTION: Vitamin D deficiency is a major health problem which affects about one billion people in the world. Although, vitamin D supplementation is recommended as standard treatment of vitamin D deficiency, there are controversies on dose response relationship. In this regard, the present study aimed to determine the impact of vitamin D3 supplement on raising of serum 25 hydroxyvitamin D[25(OH)D] in healthy subjects with varying degrees of vitamin D deficiency. MATERIALS AND METHODS: In this clinical trial 114 subjects with varying degrees of vitamin D deficiency were entered and divided into three groups: serum levels of 25(OH) D less than 10 ng/ml, 10-20 ng/ml, and 20-30 ng/ml. All of the participants were given 50,000 units vitamin D3 per week for 8 weeks, thereafter, changes in serum levels of vitamin D and PTH were evaluated at week twelve. The results were analyzed using SPSS version 16 and P < 0.05 was considered to be significant. RESULTS: Of the 114 vitamin D deficient subjects, serum level of vitamin D was below 10 ng/ml in 22 persons (19.3%), 10-20 ng/ml in 52 persons (45.6%) and 20-30 ng/ml in 40 persons (35.1%). Following vitamin D prescription all people with varying degrees of vitamin D deficiency obtained a favorable serum level. The increase in vitamin D levels were 26.4, 18.5, and 8.3 ng/ml, in individuals with baseline vitamin D levels below 10 ng/ml, 10-20 ng/ml and 20-30 ng/ml, respectively. The changes in 25(OH) vitamin D in all three groups were significant (P < 0.05), nonetheless no significant alterations in serum levels of PTH were observed (P > 0.05). CONCLUSION: Our results indicated an inverse relationship between baseline serum levels of 25(OH) D and its increment following treatment with vitamin D3. Therefore, the magnitude of increments in serum 25(OH) D is greater in subjects with lower baseline levels of 25(OH) D.

Best Practice for Prolonged Fever in Primary Care Setting: Close Follow-Up or Empiric Antibiotic Therapy?

The management of prolonged fever in low-socioeconomic-status areas by primary care providers such as general practitioners is challenging. Given the endemic nature of many infectious diseases, physicians typically start empirical antibiotic therapy following a limited diagnostic workup including serologic examinations. Herein, we report the case of a young male patient with prolonged fever and arthralgia initially diagnosed with and treated for brucellosis but with a confirmed diagnosis of systemic lupus erythematosus on follow-up. This unique case shows that close follow-up is the best practice for managing prolonged fever in cases with non-specific laboratory findings.

Association between ERα polymorphisms and systemic lupus erythematosus: susceptibility and in silico analysis.

BACKGROUND: Systemic lupus erythematous (SLE) is a multisystem and autoimmune disorder leading to damage of multi-organ systems. The current study aimed to assess the possible association between ERα gene polymorphisms and SLE in a southeast Iranian population. METHODS: The ERα PvuII and XbaI polymorphisms were genotyped by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method in 170 SLE patients and 186 healthy subjects. RESULTS: There was no association between ERα PvuII and XbaI polymorphisms and SLE susceptibility; however, the combination of the TC/AA and CC/GG genotypes of ESR α PvuII and XbaI polymorphisms were more frequent in SLE patients. The results indicated that TT haplotype of the ERα gene polymorphisms could increase the SLE risk almost 2.4-fold (odds ratio 2.4, 95% CI 1.3-4.3, P = 0.005). The in silico analysis revealed that the ERα PvuII and XbaI single nucleotide polymorphisms occurred in acceptor splicing sites, and these mutations can lead to the increase of Human Splicing Finder score of the mutant alleles. CONCLUSIONS: The ESR α PvuII and XbaI polymorphisms have no association with SLE; however, the combination of the TC/AA and CC/GG genotypes were associated with SLE susceptibility.

Polymorphisms of the folate metabolizing enzymes: Association with SLE susceptibility and in silico analysis.

Systemic lupus erythematosus (SLE) is a typical autoimmune disorder with multiple organ involvement and unknown etiology. It has been shown that polymorphic variants of the genes encoding key enzymes of folate and methionine metabolism may influence DNA methylation. Genomic DNA was extracted from blood samples of 150 SLE patients and 160 controls, matching age, sex, and ethnicity. MTHFR rs1801133C>T and MTR rs1805087A>G polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. MTHFR rs1801131A>C genotype was determined by the tetra-primer amplification refractory mutation system (Tetra-ARMS), and DHFR rs70991108 polymorphisms' genotyping was performed by PCR methods. In-silico approach was used to analyses the effects of these variations on the structure of mRNA and protein. MTHFR rs1801131AC+CC genotypes were significantly higher in the SLE patients compared to the controls (37 vs. 26%, OR 1.7 (95% CI 1-2.8); p=0.03). The frequency of MTHFR rs1801131C allele was significantly higher in the SLE patients than the controls (22 vs. 15%, p=0.02). However, there was no association between MTHFR rs1801133C>T polymorphism and SLE. The frequency of CT haplotype of MTHFR rs1801133C>T and rs1801131A>C polymorphisms was significantly higher in the SLE patients (20 vs. 12%), and CT haplotype may be potentially a risk factor for SLE susceptibility [OR 1.9 (95% CI 1.2-2.9); p=0.006]. There was no association between alleles and genotypes of DHFR rs70991108 polymorphism and SLE susceptibility. The frequency of MTR rs1805087AG genotype was less frequent in the SLE patients compared to the controls, and this genotype could decrease the SLE risk (35 vs. 48%), (OR, 0.6 (95% CI, 0.4 to 0.9), p=0.03). In silico-analysis showed that both of MTHFR rs1801133C>T and rs1801131A>C SNPs made fundamental changes in the secondary structure of MTHFR-mRNA (p=0.0412 and p=0.1641; p<0.2). Also, structural analysis of the rs1801131A>C variation showed a significant effect on MTHFR function. Bioinformatics analysis showed that rs70991108 polymorphism in DHFR gene would lead to a significant alteration of the splicing process. In conclusion, MTHFR rs1801131 AC+CC genotypes could be a risk factor and MTR rs1805087AG genotype could be a protective factor for SLE susceptibility. There was no association between MTHFR rs1801133C>T and DHFR rs70991108 polymorphisms and SLE.

The ID genotype of MDM2 40 bp insertion/deletion polymorphism was associated with lower risk of SLE.

BACKGROUND: In patients with systemic lupus erythematosus (SLE), loss of immunological tolerance to self-nuclear antigens and abnormal activation of self-reactive T and B cells lead to self-antibodies and immune complex production. The autoreactive lymphocytes are removed by the apoptotic process in healthy individuals; however, apoptosis disruption could cause accumulation of apoptotic bodies and nuclear debris. Therefore, apoptosis plays a crucial role in the pathogenesis of autoimmune diseases. PURPOSE: To investigate the association between two polymorphisms in an apoptotic-related gene, MDM2, and SLE. STUDY DESIGN: A case-control study was conducted on 200 patients with SLE and 206 healthy volunteers matched for age, sex, and ethnicity. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR methods were used for genotyping. RESULTS: No association was found between the MDM2 T309G polymorphism (rs2279744) and SLE. The ID genotype of the insertion/deletion (I/D) polymorphism (rs3730485) was significantly lower in patients with SLE, and the ID genotype could be a protective factor for SLE. The DD genotype was not associated with SLE. The frequency of combined TT/ID and GG/ID genotypes of MDM2 T309G and I/D polymorphisms was lower in the patients with SLE and was associated with a lower risk of SLE. The frequency of the TD haplotype of MDM2 T309G and I/D polymorphisms was significantly lower in patients with SLE and could reduce the SLE risk. CONCLUSIONS: The ID genotype of the MDM2 I/D polymorphism was associated with a lower risk of SLE. There was no association between MDM2 T309G polymorphism and SLE.

Evaluation of HLA-G 14 bp Ins/Del and +3142G>C Polymorphism with Susceptibility and Early Disease Activity in Rheumatoid Arthritis.

Purpose/Background. Mounting evidence designates that HLA-G plays a role in the regulation of inflammatory processes and autoimmune diseases. There are controversial reports concerning the impact of HLA-G gene polymorphism on rheumatoid arthritis (RA). This study was aimed at examining the impact of 14 bp ins/del and +3142G>C polymorphism with susceptibility and early disease activity in RA patients in a sample of the Iranian population. Methods. This case-control study was done on 194 patients with RA and 158 healthy subjects. The HLA-G rs1063320 (+3142G>C) and rs66554220 (14 bp ins/del) variants were genotype by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFP) and PCR method, respectively. Results. The HLA-G +3142G>C polymorphism significantly decreased the risk of RA in codominant (OR = 0.61, 95% CI = 0.38-0.97, p = 0.038, GC versus GG; OR = 0.36, 95% CI = 0.14-0.92, p = 0.034, CC versus GG), dominant (OR = 0.56, 95% CI = 0.36-0.87, p = 0.011, GC + CC versus GG), and allele (OR = 0.58, 95% CI = 0.41-0.84, p = 0.004, C versus G) inheritance models tested. Our finding did not support an association between HLA-G 14 bp ins/del variant and risk/protection of RA. In addition, no significant association was found between the polymorphism and early disease activity. Conclusion. In summary, our results showed that HLA-G +3142G>C gene polymorphism significantly decreased the risk of RA in a sample of the Iranian population.

Interleukin-1ß (IL-1ß) & IL-4 gene polymorphisms in patients with systemic lupus erythematosus (SLE) & their association with susceptibility to SLE.

BACKGROUND & OBJECTIVES: Interleukin-1 (IL-1) is one of the pro-inflammatory cytokines that plays a main role in the regulation of immune and inflammatory responses. Interleukin 4 (IL-4) as an anti-inflammatory cytokine regulates balance between Th1 and Th2 immune responses. this study was undertaken to investigate the IL-1ß and IL-4 genes polymorphisms in patients with systemic lupus erythematosus (SLE) and also association between the polymorphisms and susceptibility to SLE. METHODS: One hundred and sixty three SLE patients and 180 healthy controls were genotyped for the IL-4 VNTR (variable number tandem repeat), IL-1ß C-511T and IL-1ß T-31C polymorphisms by polymerase chain reaction (PCR) or PCR-RFLP (restriction fragment length polymorphism) method. RESULTS: The frequencies of CC genotype and C allele of the IL-1ß T-31C polymorphism were significantly (P<0.01) lower in SLE patients than controls. Moreover, the frequencies of RP1/RP2 genotype and RP2 allele of IL-4 VNTR polymorphism were significantly (P<0.05) higher in the SLE patients. No association was observed between IL-1ß C-511T polymorphism and increased risk of SLE. We observed increased frequency of CT and TT genotypes of IL-1ß C-511T polymorphism in SLE patients with malar rash compared to SLE patients without this manifestation. INTERPRETATION & CONCLUSIONS: The present findings suggest that IL-1ß T-31C and IL-4 VNTR polymorphisms but not IL-1ß C-511T polymorphism may contribute in SLE pathogenesis. In addition, CT and TT genotypes of IL-1ß C-511T polymorphism were associated with SLE.

Association of the osteopontin rs1126616 polymorphism and a higher serum osteopontin level with lupus nephritis.

Osteopontin (OPN) is a chemokine-like glycoprotein that has a prominent role in regulating inflammation and immunity. OPN polymorphisms and elevated OPN levels are associated with systemic lupus erythematosus (SLE) in several populations. The aim of present study was to evaluate the association between the OPN rs1126616 polymorphism and OPN level with SLE susceptibility. A total of 163 SLE patients and 180 age-, gender- and ethnically matched controls were genotyped for the rs1126616 polymorphism by the polymerase chain reaction-restriction fragment length polymorphism method. Serum OPN levels were assayed by the enzyme-linked immunosorbent assay. There was no association between the OPN rs1126616 C/T polymorphism and SLE. The frequency of the OPN rs1126616 CT genotype was significantly higher in SLE patients with nephritis compared to SLE patients without nephritis and controls. Additionally, the frequency of TT genotypes was higher in SLE patients with nephritis compared to controls. The serum OPN levels were significantly higher in SLE patients compared to controls (50.6±22 vs. 35.6±15.8 ng/ml, P<0.001). Increased serum OPN levels were observed in SLE patients with lupus nephritis and joint symptoms. There was no correlation between OPN levels and the OPN rs1126616 polymorphism. The present data suggest that the CT and TT genotypes of the OPN rs1126616 polymorphism could be a risk factor for lupus nephritis. The OPN level is associated with SLE and certain SLE manifestations. However, there was no association between the OPN rs1126616 C/T polymorphism and SLE susceptibility.

Prooxidant-Antioxidant Balance in Patients with Systemic Lupus Erythematosus and Its Relationship with Clinical and Laboratory Findings.

Aim. This study was aimed at evaluating prooxidant-antioxidant balance (PAB) in patients with systemic lupus erythematosus (SLE) and its relationship with laboratory findings and clinical manifestations. Methods. In this case-control study, 60 patients with SLE and 60 healthy individuals were enrolled. The blood samples were collected and their sera were separated. Subsequently, the prooxidant-antioxidant balance value was evaluated using PAB assay for each sample. Results. The mean of PAB values in SLE patients was significantly higher than healthy controls (147.3 ± 42 versus 84.8 ± 32.2 HK, P < 0.0001). Furthermore, in SLE patients, there was a positive significant correlation between the PAB and erythrocyte sedimentation rate (ESR) (r = 0.492, P < 0.001). In addition, the PAB values in patients with alopecia, discoid rash, oral ulcers, arthritis, and nephritis were significantly higher than those without these manifestations. Conclusion. The findings of current study showed that the mean of PAB was significantly higher in SLE patients and PAB was correlated with ESR. Moreover increased PAB was found in SLE patients with alopecia, discoid rash, oral ulcers, arthritis, and nephritis. These findings suggest that the measurement of PAB may be useful to show oxidative stress condition in SLE patients.

Deoxyribonuclease I gene polymorphism and susceptibility to systemic lupus erythematosus.

The DNASE1 gene is regarded as one of the susceptible genes for systemic lupus erythematosus (SLE). Recent studies have detected the presence of a variable number of tandem repeat (VNTR) polymorphisms at intron 4 in this gene. The current study aimed to investigate the influence of current polymorphism on SLE susceptibility in a sample of the Iranian population. The study included 163 patients and 180 unrelated healthy controls. The VNTR polymorphisms in the DNASE1 gene were determined by polymerase chain reaction (PCR). The genotypic frequency investigation indicated that 3/6 genotype frequency in patients affected with SLE was more than healthy controls (P = 0.004). Moreover, 3/4 and 4/6 genotype frequencies in healthy cohort were further in comparison with patient cohort (P = 0.0001). Findings of the present study manifested that 3/6 genotype in patients affected with SLE was significantly more than healthy controls, thus it can be regarded as a risk factor, while 3/4 and 4/6 genotypes were significantly higher in healthy controls which can be considered as a protective factor.

Epidemiology of rheumatic diseases in Iran from analysis of four COPCORD studies.

AIM: To calculate the epidemiology of Rheumatic Diseases in Iran. MATERIALS AND METHODS: The data of Tehran, Zahedan, Sanandaj (urban) and Tuyserkan (rural) stage Community Oriented Program for the Control of Rheumatic Diseases (COPCORD) studies were gathered. The data were adjusted to the population number of the studied areas to represent Iran. RESULTS: The population of Iran is 75 149 669 (71.5% urban areas, males 50.4%) and of the mentioned area were respectively 10 000 000, 580 071, 311 444 and 109 262. The interviewed subjects were 10 291, 1565, 2100 and 5830. Male/female ratio was 0.9/1, 0.8/1, 08/1 and 0.8/1. Musculoskeletal complaints during the past 7 days (people aged ≥ 15 years) were detected in 44.7% of subjects. They were: shoulder 15.6%, wrist 10.4%, hands and fingers 10.2%, hip 8.3%, knee 27.4%, ankle 12.3%, toes 6.2%, cervical spine 14.2% and dorsolumbar spine 23.7%. Osteoarthritis (OA) was detected in 16.9%: knee 15.5%, hands 2.9% and hip 0.32%. Low back pain was found in 15.7%, sciatica in 0.94%, and soft tissue rheumatism in 4.6% (shoulder tenosynovitis 2.5%, frozen shoulder 0.56%, tennis elbow 1.2%, golf elbow 0.48%, de Quervain tenosynovitis 0.24%, trigger finger 0.2%, carpal tunnel syndrome 1.3%). Rheumatoid arthritis was detected in 0.37%, seronegative spondyloarthropathy in 0.24%, ankylosing spondylitis in 0.12%, systemic lupus erythematosus in 0.06%, Behcet's disease in 0.08%, fibromyalgia in 0.79% and gout in 0.13%. CONCLUSION: Compared to other COPCORD reports (17 countries), Iran gets the following rank: musculoskeletal complaints second, low back pain fourth, osteoarthritis second, knee osteoarthritis third, soft tissue rheumatism sixth, rheumatoid arthritis tenth, seronegative spondyloarthropathies fifth, gout eleventh and fibromyalgia fifth.

Serum vitamin D level and disease activity in patients with recent onset rheumatoid arthritis.

INTRODUCTION: Rheumatoid Arthritis (RA) is one of the most prevalent autoimmune diseases. Due to the significance of the relationship between serum vitamin D levels and autoimmune diseases, this study aimed to determine the relationship between serum vitamin D level and the severity of disease activity in patients with newly diagnosed RA. METHOD: This cross-sectional study was conducted on 66 patients meeting the American College of Rheumatology - European League Against Rheumatism classification criteria for RA. It was performed in 2012 using simple sampling. The disease activity was measured based on Disease Activity Score of 28 joints - erythrocyte sedimentation rate (DAS28-ESR) and serum 25-OH vitamin D (25(OH)D) levels using the chemiluminescent immunoassay method. In addition, the levels of ESR and C-reactive protein (CRP), the duration of morning stiffness, and the number of joints with tenderness and swollen were calculated as well. The data were analyzed using the Pearson correlation coefficient. RESULTS: In this study, 10 patients were male (15.2%) and 56 were female (84.8%). The average age of the participants was 45.2 ± 15.3 years. The average level of 25(OH)D in the patients' serum was 30.5 ± 28.9 ng/mL and the mean DAS28-ESR was 5.6 ± 1.1. The correlation coefficient showed that there was an inverse relationship between 25(OH)D and DAS28-ESR, the number of tender and swollen joints, global patient assessment and duration of morning stiffness (P < 0.01). However, the average 25(OH)D level was not related to ESR (P = 0.779) and CRP (P = 0.269). CONCLUSION: The results of this analysis indicated that patients with more active RA have a lower serum vitamin D level.

Association of eNOS gene polymorphisms and systemic lupus erythematosus in southeast Iran.

BACKGROUND AND OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with unknown etiology. Genetic and environmental factors play important roles in the pathogenesis of SLE. The primary objective of this study was to investigate the possible association of eNOS gene intron 4b/a, Glu298Asp and T-786C polymorphisms with SLE in southeast Iran populations. PATIENTS AND METHODS: This was a case-control study comparing eNOS polymorphisms in 106 SLE patients and 196 age- and sex-matched healthy controls. The 4b/a, Glu298Asp and T-786C polymorphisms were analyzed using polymerase chain reaction and restriction fragment length polymorphism. RESULTS: Our findings indicated that the 4b/a polymorphism was associated with SLE, and the risk of SLE was 3.5- and 1.75-fold higher in patients with aa and ba genotypes than in patients with bb genotype. No association was observed between Glu298Asp and T-786C polymorphisms and SLE. There were no differences in eNOS gene polymorphisms between the Balouch and Fars population. CONCLUSION: Statistically significant differences were observed in genotypes and allele frequencies of 4b/a polymorphism between patients with SLE and healthy controls in southeast Iran.