Rheumatology Research
Rheumatology Research
2476-5856
3
2
2018
04
01
Genetic and epigenetic etiology of autoimmune diseases: lessons from twin studies
45
57
EN
Saeed
Aslani
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
s-aslani@alumnus.tums.ac.ir
Ramazan
Rezaei
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
ramin.rezaei25@gmail.com
Ahmadreza
Jamshidi
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
jamshidia@tums.ac.ir
Mahdi
Mahmoudi
0000-0002-8164-8831
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
mahmoudim@tums.ac.ir
10.22631/rr.2018.69997.1041
Twin studies have been considered as strong approaches in determining the cause of complex diseases with regard to identifying the involvement of multiple genes, single genes, environmental factors, and a possible relation between genetics and the environment. The concordance observed among monozygotic (MZ) twins suggests the involvement of genetic factors. Nonetheless, MZ twins demonstrate a rate of discordance in different characteristics, like proneness towards diseases, despite virtually identical genetic backgrounds. Discordance has been suggestive of the involvement of the environment alongside genetic factors. As a result, a bulk of studies has supported the hypothesis that environmental factors can impress the epigenetic construction and, therefore, influence disease susceptibility. Twin studies yield data about clinical courses and outcomes of disease, in addition to knowledge of genetics, epigenetics, environmental factors, and risk of disease development. To date, genome-wide association studies (GWASs) have reported that genomic variants are responsible for only a number of cases of autoimmunity in twins and have been unable to explain the disease discordance among MZ twins. With respect to the exploration of epigenetic mechanisms in autoimmunity, discordant MZ twins have been attractive models and have contributed remarkably. It is essential for future studies to evaluate the genetic variants as well as epigenetic changes in large twin populations. The current review discusses the genetic and epigenetic lessons obtained from studies of twin cases.
Environmental Factors,epigenetic changes,genetic factors,monozygotic twins
https://www.rheumres.org/article_51219.html
https://www.rheumres.org/article_51219_d8d3e61782c558b03650d45570304ea6.pdf
Rheumatology Research
Rheumatology Research
2476-5856
3
2
2018
04
01
The prevalence and type of pulmonary involvement in ankylosing spondylitis
59
62
EN
Nader
Rezaie
Assistant Professor of Pulmonary Medicine, Department of Pulmonary Medicine, Firouzgar Hospital, Iran University of Medical Science, Tehran, Iran
drnader48@gmail.com
Simin
Almasi
Assistant Professor of Rheumatology, Department of Rheumatology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran
simin_almasi@yahoo.com
Kazem
Zamani
Internal Medicine, Department of Rheumatology, Firouzgar Hospital, Iran University of Medical Science, Tehran, Iran
k.zamani343@gmail.com
Ali
khalooei
Assistant Professor of Community Medicine, Department of Community Medicine, School of Medicine, Kerman University of Medical Sciences, Kerman, Iran
dr_khaloei@yahoo.com
10.22631/rr.2018.69997.1042
Ankylosing spondylitis (AS) is a chronic and inflammatory disease that affects the spinal column and peripheral joints. Pulmonary manifestations in patients with ankylosing spondylitis are rare and usually asymptomatic and include restrictions from fibrobullous apical disease, chest wall disease, spontaneous pneumothorax, and obstructive sleep apnea. This cross-sectional study was performed on 60 patients with AS. All patients fulfilled the modified New York criteria, 1984. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI), CRP, and ESR were measured in all patients. All patients were visited by a rheumatologist and a pulmonologist, and pulmonary function test (PFT) and chest x-ray (CXR) were performed. High-resolution computed tomography (HRCT) was performed only in patients who had abnormal results in clinical examination, PFT, or CXR. Overall, 50 patients had normal CXR (83.3%) and 10 patients (16.7%) had abnormal CXR, including reticulonodular (3.3%), atelectasis (3.3%), and lucency (3.3%). Of the 14 cases that were HRCT, only 8 (57.1%) had abnormal lung CT scans. The Pulmonary Function Test (PFT) was taken from all patients, and 15 (25%) patients had abnormal results, 11 (18.3%) had a restrictive pattern, and 4 (6.7%) had an obstructive pattern. The incidence of lung involvement in patients with AS in this study is similar to that of other studies (16%); in most cases, the lung involvement is of the restrictive pattern. Lung involvement in these patients may be asymptomatic.
ankylosing spondylitis,pulmonary manifestation,restrictive pattern
https://www.rheumres.org/article_51025.html
https://www.rheumres.org/article_51025_f43ef7e34b197ae4598e5b42f2cc8aae.pdf
Rheumatology Research
Rheumatology Research
2476-5856
3
2
2018
04
01
Assessment of serum level of prolactin, sex hormone and systemic manifestations in patients with scleroderma
63
68
EN
Zohre
Khodamoradi
0000000248764312
Shiraz Geriatric Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
zohre.khodamoradi@gmail.com
Mohammadali
Nazarinia
Shiraz Geriatric Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
nazariniam@gmail.com
Farzane
Yavari
Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
z_astronomist.star@yahoo.com
Mesbah
Shams
Endocrine and Metabolism Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
shams@sums.ac.ir
Eskandar
Kamali Sarvestani
Autoimmune Disease Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
immunol2@sums.ac.ir
10.22631/rr.2018.69997.1043
This study aimed to determine the serum levels of prolactin and dehydroepiandrosterone (DHEA) in systemic sclerosis (SSc) and their correlation with disease duration and clinical manifestations. This case control study investigated 26 scleroderma patients and 26 healthy individuals adjusted for age and sex with the case group as controls. Serum levels of DHEA using radioimmunoassay (RIA) and prolactin using immune radiometric assay (IRMA) were measured in both groups. Clinical manifestations of the disease, disease duration, and fertility status at the time of the study were also determined for each scleroderma patient. The findings on 26 scleroderma patients (20 females and 6 males with mean age of 44 years and mean disease duration of 5±3 years) demonstrated that serum levels of DHEA were significantly lower in scleroderma patients than controls based on gender (males, <em>p</em>= 0.02) and fertility (fertile women, <em>p</em>= 0.01; menopausal women, <em>p</em>= 0.008). However, no significant difference was found in prolactin serum levels between the case and control groups. Moreover, only serum PRL levels correlated significantly with disease duration in fertile women. Contrary to previous studies, this study manifested that serum PRL did not differ between scleroderma patients and normal individuals. Yet, serum DHEA was shown to be significantly lower in scleroderma patients. Only PRL levels correlated significantly with disease duration.
DHEAS,prolactin,scleroderma,sex hormone,systemic sclerosis
https://www.rheumres.org/article_54142.html
https://www.rheumres.org/article_54142_82ed6c279d3856ecd191cfc6bd078a82.pdf
Rheumatology Research
Rheumatology Research
2476-5856
3
2
2018
04
01
Comparing the prevalence of metabolic syndrome in systemic lupus erythematosus, rheumatoid arthritis and psoriatic arthritis: A cross sectional study
69
75
EN
Maryam
Mobini
Department of Internal Medicine, Diabetes Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran;
mmobini50@yahoo.com
Fatemeh
Niksolat
Department of Internal Medicine, Orthopedic Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
fniksolat@yahoo.com
Reza Ali
Mohammadpour
Department of Biostatistics, Diabetes Research Center, Faculty of Health, Mazandaran University of Medical Sciences, Sari, Iran
mohammadpour2002@yahoo.com
Sarah
Sadr
Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
sadr.sarah@gmail.com
Saeed
Dashti dargahloo
Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
saeed1994dd@yahoo.com
10.22631/rr.2018.69997.1044
Evidence suggests an association between metabolic syndrome (MetS) and its complications in rheumatologic disorders. It has a proinflammatory role and leads to increased risk of morbidity and mortality. The present study evaluated and compared the prevalence of MetS in participants with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and psoriatic arthritis (PsA). Two hundred fifty-three patients, including 68 SLE, 140 RA, and 45 PsA patients, were recruited for this study. Their demographic data, clinical features, and laboratory parameters were compared with those of age-matched controls (n=123). MetS was diagnosed based on the 2005 National Cholesterol Education Program (Adult Treatment Panel III) (NCEP/ATP III) and International Diabetes Federation (IDF) definitions. The prevalence of MetS in patients and controls was compared. Statistical analysis was performed in SPSS version 19, and results were considered significant at <em>p</em>p=0.007). The prevalence of MetS was high in patients with PsA and SLE, while arterial hypertension was more prevalent in PsA patients, and lower levels of blood sugar were seen in those with RA. The components of MetS should be routinely investigated in patients with these disorders to make early diagnoses and determine appropriate management plans.
Metabolic Syndrome,psoriatic arthritis,Rheumatoid arthritis,Systemic lupus erythematosus
https://www.rheumres.org/article_51026.html
https://www.rheumres.org/article_51026_5902db747959a7890743fce7407cddc6.pdf
Rheumatology Research
Rheumatology Research
2476-5856
3
2
2018
04
01
CD26 mRNA expression in Systemic Lupus Erythematosus
77
82
EN
Maryam
Valizadeh
Department of Medical Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran;
valizade.maryam@gmail.com
Arman
Ahmadzadeh
0000-0003-3607-0118
Department of Rheumatology, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
arman319@yahoo.com
Mousa
Behzadi
Department of Medical Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran;
mousa.behzadi@gmail.com
Farshid
Yeganeh
0000-0001-5128-1840
Department of Medical Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran;
fyeganeh@sbmu.ac.ir
10.22631/rr.2018.69997.1045
Systemic lupus erythematosus (SLE) is a complex autoimmune disease which involves several organs.CD26 is a multifunctional molecule that has an extracellular domain with dipeptidyl peptidase IV activity which digests crucial inflammatory molecules. CD26 plays an important role in T-cell activation and enhances immune responses. This study was carried out to evaluate the level of CD26 gene expression in SLE patients. Forty-six SLE patients and 44 healthy controls voluntarily participated in this study. Based on the SLE disease activity index (SLEDAI), the patients were divided into two subgroups, those with active disease (n=24) and those with inactive disease (n=22). Patients were also subgrouped according to renal involvement, as those with lupus nephritis (n=17) and those without lupus nephritis (n=29). Their CD26 mRNA levels in peripheral blood cells were analyzed by quantitative RT-PCR. CD26 mRNA expression increased 3.6-fold in SLE patients in comparison with the controls (<em>p</em><0.0001). No difference was found in the level of CD26 mRNA among the subgroups of the SLE patients with the active or inactive form of the disease (<em>p</em>>0.05). Although CD26 mRNA expression in patients with lupus nephritis was 2.76-fold higher than those without nephritis, the difference was not statistically significant (<em>p</em>>0.05). CD26 gene expression in peripheral blood cells of SLE patients significantly increased over that of the controls. This increase was not affected by the disease activity nor did it show any significant correlation with complications in organs.
dipeptidyl peptidase IV,Gene expression,Systemic lupus erythematosus
https://www.rheumres.org/article_50177.html
https://www.rheumres.org/article_50177_d50aa98bf9d2f753535d1dabee713f85.pdf
Rheumatology Research
Rheumatology Research
2476-5856
3
2
2018
04
01
Serum osteocalcin levels in postmenopausal osteoporotic women receiving alendronate
83
89
EN
Mohsen
Soroush
0000-0003-3813-0188
Rheumatology Section, Department of Internal Medicine, AJA University of Medical Sciences, Tehran, Iran
mohsensoroosh@gmail.com
Alireza
Khabbazi
0000-0002-9482-6967
Connective Tissue Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
dr_khabbazi@yahoo.com
Aida
Malek Mahdavi
Connective Tissue Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
aidamalek@gmail.com
10.22631/rr.2018.69997.1046
Osteoporosis is characterized by low bone mass, changes in the microscopic structure of bone, and increased bone fragility. Monitoring response to treatment is critical for the appropriate management of osteoporosis. Serum osteocalcin has become known as a bone formation biomarker for the evaluation of treatment response in postmenopausal osteoporosis. The present study assessed the effect of alendronate on serum osteocalcin levels in patients with postmenopausal osteoporosis. Thirty-four women with postmenopausal osteoporosis diagnosed by DEXA received alendronate 10 mg/day for 3 months. Serum osteocalcin, calcium, phosphorus, and alkaline phosphatase (ALP) were measured at baseline and after 45 and 90 days. Mean age and duration of menopause were 57.91±7.68 and 9.37±8.43 years, respectively. Mean serum osteocalcin at baseline was 15.27±3.7 ng/ml, which decreased significantly after 45 and 90 days of treatment with alendronate (<em>p</em>=0.009 and <em>p</em><0.001, respectively). The levels of serum osteocalcin at days 45 and 90 in patients aged < 60 and ≥ 60 years were not significantly different. The levels of serum osteocalcin at days 45 and 90 in patients with a menopause duration of < 5 and ≥ 5 years were not significantly different. No significant difference was observed in serum osteocalcin levels at days 45 and 90 in patients with osteoporosis only in the femoral neck (n=7), only in the lumbar spine (n=20), and in both femoral neck and lumbar spine (n=7). Measurement of serum osteocalcin is a less expensive, more available tool for monitoring the results of treatment in osteoporotic patients. It provides a practical suggestion about the effectiveness of treatment earlier than densitometry. As expected, osteocalcin levels decreased after treatment of osteoporosis.
alendronate,osteocalcin,Osteoporosis
https://www.rheumres.org/article_50063.html
https://www.rheumres.org/article_50063_b0580b123151cf1e7767f2f01858d9ae.pdf