Pairwise association of upper extremity musculoskeletal conditions: large population investigation from PERSIAN cohort study.

BACKGROUND: People with one area of upper extremity musculoskeletal conditions (UEMSCs) may have other. We aim to determine how frequent is the ipsilateral coexistence of common UEMSCs apparent on interview and examination. METHODS: This is a large population cross-sectional study conducted as part of the PERSIAN cohort study int Mashhad University of Medical Sciences (MUMS). The study aimed to evaluate individuals for symptoms and signs of the following conditions: carpal tunnel syndrome (CTS), lateral epicondylitis (LE), trapeziometacarpal osteoarthritis (TMC OA), DeQuervain's tendinopathy, trigger digit (TD), ganglion cyst, and rotator cuff tendinopathy (RCT). The primary outcomes of the study are (1) to determine the side-specific relative risk of each UEMSC coexisting with the second condition, and (2) to identify predictive factors of each UEMSC using side-specific multivariate logistic regression analysis. RESULTS: We conducted a study involving 4737 individuals from the staff of MUMS and found significant pairwise associations among UEMSCs on a side-specific basis. Women had more chance of having DeQuervain's disease (ß = 6.3), CTS (ß = 3.5), ganglion cyst (ß = 2.5), TMC OA (ß = 2.3), and RCT (ß = 2.0). Each condition (dependent variable) was associated with others (predictors) as follows: CTS: RCT (ß = 5.9), TMC OA (ß = 4.7), TD (ß = 2.9), and LE (ß = 2.5). TMC OA: LE (ß = 6.4), TD (ß = 5.4), RCT (ß = 4.3), and CTS (ß = 4.1). LE: RCT (ß = 8.1), TMC OA (ß = 6.4), and CTS (ß = 2.5). DeQuervain's disease: TD (ß = 13.6), RCT (ß = 4.5), and LE (ß = 3.8). TD: CTS (ß = 8.8), ganglion cyst (ß = 7.6), DeQuervain's disease (ß = 5.7), and TMC OA (ß = 4.3). RCT: LE (ß = 5.8), TMC OA (ß = 5.5), CTS (ß = 5.2), and DeQuervain's disease (ß = 4.3). Ganglion cyst: TD (ß = 4.8). CONCLUSION: Our study reports significant increased frequency of the UEMSCs among patients who already have one of the diseases, in a large sample size study. Level of Evidence Level II (Differential Diagnosis/Symptom Prevalence Study).

Validation and Psychological Properties of the Persian Version of DSM 5 Yale Food Addiction Scale 2.0 (PYFAS 2.0) in Non-clinical Population.

Background: The Yale Food Addiction Scale version 2.0 (YFAS 2.0) is used for the assessment of food addiction (FA). This research intended to evaluate the validity of the Persian translation of the questionnaire and to investigate the psychological properties and the association between FA and anthropometric indices. Methods: In a sample of 473 nonclinical participants, FA, binge eating, and objectively measured anthropometric indices were assessed. Internal consistency, convergent, and validity of the PYFAS 2.0 were examined. Also, the factor structure (confirmatory factor analysis following the 11 diagnostic indicators in addition to the significant distress) and the construct of the scale were evaluated. Findings: The frequencies of mild, moderate, and severe FA based on PYFAS 2.0 were 0.2%, 10%, and 5.5%, respectively. The findings supported a one-factor structure. The confirmatory factor analysis revealed a good construct validity (RMSEA=0.043, χ2=76.38, df=41, χ2 (CMIN)/df=1.862, GFI=0.975, AGFI=0.957, IFI=0.986, RFI=0.958, ECVI=0.319, TLI=0.978). For both the diagnostic and symptom count versions, the PYFAS 2.0 presented acceptable internal consistency (IC) (Kuder-Richardson 20=0.99 and McDonald omega=0.91). Conclusion: The PYFAS 2.0 was a psychometrically sound instrument in an Iranian non-clinical population. This questionnaire can be used to study FA in Persian non-clinical populations. Future research should study the psychometric characteristics of this scale in high-risk groups.

A Retrospective Study of Serum Calcium Status in Tehran, Iran (105,128 Samples, from 2009-2018).

Background: Calcium is a necessary mineral for life to keep the body and bones healthy. Various factors including hormones, diet, age, and gender affect serum calcium status. The aim of this sturdy was to assess the serum calcium level (SCL) of Tehran population, which has about 10 million multi-Ethnic populations and represents from the whole country. Methods: In this retrospective study, the measured SCL of 105,128 individuals referred to different laboratories of Tehran, Iran were evaluated and its relationship with the age, gender, seasons, and different years during 2009-2018, were analyzed. Results: After excluding outliers, 91,257samples remained, which 61162 (58.64%) and 30,095 (41.36%) were female and male, respectively. The mean SCL was 9.36 (9.35, 9.37) mg/dl (95%CI). The highest and lowest SCLs were 3.1 and 18.2mg/dl, respectively. From the total study population, 74127 (81.23%) had normal SCLs, 14110 (15.46%) had hypocalcemia, and 3020 (3.31%) had hypercalcemia. SCLs were normal in 83.6% of men and 79.66% of women. Women had a significantly higher frequency of hypocalcemia compared to men (17.2% vs. 12.83%, p<0.0001). Conclusion: Normal and abnormal SCLs were significantly different in age groups and in both genders. It means that gender and age affect SCLs. Every year of increasing age, reduces the chance of hypercalcemia by 40%, significantly. Age seems to affect hypercalcemia more than hypocalcemia. Age in men increases the risk of hypocalcemia, and reduces the risk of hypocalcemia in women. Therefore, it is recommended to encourage dietary calcium intake among premenopausal women and older men.

Effectiveness of lubratex and vitamin A on ocular surface disorders in ICU patients: A randomized clinical trial.

BACKGROUND: High prevalence of ocular surface disorders includes eye dryness and corneal ulcer among intensive care unit patients remains an issue. This study aimed to compare the effectiveness of Lubratex ointment and vitamin A eye ointment in preventing ocular surface disorders in intensive care unit patients. METHODS: A single-center randomized clinical trial was conducted in critically ill patients of vitamin A eye ointment and Lubratex ointment in preventing ocular surface disorders. Forty-one eligible patients were randomly assigned to administered vitamin A eye ointment in one eye and Lubratex ointment in the other eye. After five days, using fluorescein and Schirmer's tests, an ophthalmologist examined patients and specified those with ocular surface disorders. RESULTS: The results showed a significant decrease in the incidence of dry eye (p ≤ 0.001) and corneal ulcer (p = 0.002) with the use of Lubratex ointment. CONCLUSIONS: Although Lubratex ointment was more effective than vitamin A ointment in preventing ocular surface disorders, further research is needed to confirm the findings of the present study.

A Comprehensive, Epidemiological and Ecological Descriptive Study on Vitamin D Status in Iran (308005 People, from 2009-2018).

BACKGROUND: Vitamin D is an essential substance for absorption of calcium and phosphorus from intestine so it is vital for muscles and skeletal development. Deficiency of this vitamin is pandemic. The vitamin D status depends on the different factors such as UV exposure, diet, and ecological features of living location, age and gender. The aim of this study was to describe the vitamin D level in different provinces of Iran and to investigate the association between vitamin D status and multiple variables. METHODS: We collected the serum 25(OH)D (Vitamin D) level data of 308,005 people referred to different laboratories from 30 provinces of Iran and organized them by each province, year, age, gender, precipitation, latitude and longitude, and humidity over 10 yr (2009-2018). Data were analyzed to find out the correlation between age, gender, longitude and latitude, humidity and sum of precipitation. RESULTS: West Azerbaijan had the highest level of vitamin D with a mean level of 33.24 and a standard deviation of 32.001, and North Khorasan had the lowest level with a mean level of 14.46 and a standard deviation of 8.980 among 30 provinces of Iran. The correlation between all studied variables (age, and gender, latitude and longitude, humidity, the sum of precipitation) was significant (P<0.001). CONCLUSION: The average total vitamin D level in Iran is 25.41 ng/ml, which is within the area of deficiency. Vitamin D is associated with age, and gender, latitude and longitude, humidity, the sum of precipitation. So changes in any of these variables can lead to vitamin D alteration.

HLA Class I and Class II Genes Distribution of the Iranian Sistanis.

BACKGROUND: The high polymorphism in the human leukocyte antigen (HLA) genes can be used as an identity of individuals to compare with other populations. This extreme polymorphism in the HLA system is accountable for the differences in alleles and haplotypes among ethnic groups, populations, and the inhabitants of many regions. OBJECTIVE: To define the frequency of HLA alleles and haplotypes among the Sistanis, Sistani/Zaboli population in Iran. METHODS: In this study, genotyping of class I (A, B, C) and class II HLA (DRB1, DQA1, DQB1) loci were determined in 90 unrelated Iraninan Sistani people and the results were compared with 474,892 HLA chromosomes from a diverse worldwide population. RESULTS: The highest frequently observed alleles in this study were A*02:01, B*35:01, C*12:03, C*06:02, DRB1*11, DQA1*05:05, and DQB1*03:01. Furthermore, the most frequent 3-locus haplotypes were A*02:01-B*50:01*C*06:02, DRB1*11-DQB1*03:01-DQA1*05:05, and A*02:01-B*50:01-DRB1*07. The most occurring 4-locus haplotypes were A*02:01-B*50:01-C*06:02-DRB1*07 and A*02:01-B*50:01-DRB1*07-DQB1*02:01. A*02:01-B*50:01-C*06:02-DRB1*07-DQB1*02:01 and A*02:01-B*50:01-C*06:02-DRB1*07-DQB1*02:01-DQA1*02:01 were determined to be the predominant 5- and 6-locus haplotypes, respectively. The heat maps and multiple correspondence analyses based on the frequency of HLA alleles showed that Sistanis share a common genetic inheritance with other Iranian ethnic groups such as the people from Yazd and Fars except some differences with Baluchis, Iranian Jews, Lurs of Kohgiluyeh/Buyerahmad, and Arabs of Fars, which may arise from the admixture of these groups or with foreign subgroups over centuries, and also a close relatedness with some European populations. CONCLUSION: These data could be useful for finding better donor matches for organ transplantation among Sistanis or other related Iranian ethnic groups, epidemiological studies of HLA-associated diseases, handling HLA genomics and mapping the migration pattern of different ethnic group.

Relationship between serum levels of oxidative stress and metabolic syndrome components.

AIMS: This study aimed to investigate the relationship between the total antioxidant capacity (TAC) and Malondialdehyde (MDA) with number of metabolic syndrome (Mets) components on the personnel working in Shahroud University of Medical Sciences. METHODS: This cross-sectional study was conducted on 167 personnel aged 30-60 years old. ATP III criteria were used to diagnose patients with MetS. Oxidative stress indicators were measured. The data was analyzed via one-way ANOVA, and Pearson and Spearman correlation coefficients. RESULTS: The result showed that TAC had a significant positive correlation with HDL and a significant negative correlation with abdominal obesity. In addition, there was a significant positive association between the level of MDA and age, BMI, abdominal obesity, diastolic blood pressure, triglycerides, and LDL; however, it had a negative significant correlation with HDL. CONCLUSIONS: The measurement of TAC and MDA biomarkers can increase the early diagnosis of patients at risk of developing Mets.

Appropriate anthropometric indices of obesity and overweight for diagnosis of metabolic syndrome and its relationship with oxidative stress.

AIMS: this study aimed to determine the most appropriate anthropometric indices for diagnosis of metabolic syndrome (MetS) and its relationship with oxidative stress markers. MATERIAL AND METHODS: This cross-sectional study was conducted in 2015 on 108 employees working in Shahroud University of Medical Sciences. Demographics, anthropometric indices (BMI: Body mass index; WC: Waist circumference, WHR: Waist hip ratio, WHtR: Waist-to-height Ratio), Mets: and Then oxidative stress markers (total antioxidant capacity; TAC, Malondialdehyde; MDA, serum superoxide dismutase; SOD, catalase; Cat) were measured. All analyses were performed at a significant level of 0.05, using the SPSS Statistics 21 and Stata 12 software. RESULT: The mean age of the participants was 41.4±7.8years. the mean values of different anthropometric indices in patients with metabolic syndrome were higher than those in subjects without MetS and this difference was significant. According to ROC curve the best marker for diagnosis of Mets was WHtR (Waist-to-height Ratio) and its cut off point was 0.54.Also, there was a positive correlation between WHtR and MDA serum levels. In addition, there was a negative correlation between WHtR and the levels of TAC, SOD, and CAT but it was not significant. CONCLUSIONS: It seems that WHtR can be a valuable marker for predicting metabolic disorders and related diseases; moreover, it can be used for evaluation of oxidative stress level. Finally, the formula WC=height×0.54 as a simple tool for prevention of metabolic diseases can be used in university personnel.

Lipid ratio as a suitable tool to identify individuals with MetS risk: A case- control study.

AIMS: This study aimed to compare the serum lipids ratio in staff with and without metabolic syndrome (MetS) who were working in Shahroud University of Medical Sciences. METHODS: This case-control study was conducted in 2015 on 499 personnel aged 30-60 years old. ATP III criteria were used to diagnose patients with MetS. The data were analyzed by using logistic regression and ROC curve. RESULTS: Mean lipid ratio was higher in individuals having the MetS in both sexes compared with those without. In addition, the mean levels of lipid ratios significantly increased with increasing number of MetS components in both sexes. Also it could be concluded that TG/HDL-C ratio is the best marker for the diagnosis of MetS in men and women. Moreover, the cut-off point for the TG/HDL-C was 2.86 in women and 4.03 in men. It was found that for any unit of increases in the TG/HDL-C, the risk of developing the MetS will increase by 2.12 times. CONCLUSIONS: TG/HDL-C ratio is found to be the best clinical marker for the diagnosis of MetS compare with other lipid ratios, therefore it is recommended to be used as a feasible tool to identify individuals with MetS risk.

Graves' ophthalmopathy and gene polymorphisms in interleukin-1alpha, interleukin-1beta, interleukin-1 receptor and interleukin-1 receptor antagonist.

PURPOSE: Interleukin-1 (IL-1) is known to have an important role in pathogenesis of Graves' ophthalmopathy (GO). Polymorphisms in IL-1 gene have been associated with autoimmune reactions. This study aimed to investigate the association of GO with single-nucleotide polymorphisms (SNPs) in the IL-1 family (IL-1alpha, IL-1beta, IL-1 receptor [IL-1R] and IL-1 receptor antagonist [IL-1RA]). METHODS: A total of 57 patients of Graves' disease without GO, 50 patients with GO and 140 healthy controls were enrolled. Patients were recruited consecutively from the outpatient endocrine clinic of a large university general hospital. Cytokine typing was performed by the polymerase chain reaction with sequence-specific primers assay. The allele and genotype frequencies of the following polymorphisms were determined: IL-1alpha (-889C/T), IL-1beta (-511C/T), IL-1beta (+3962C/T), IL-1R (Pst-1 1970C/T) and IL-1RA (Mspa-1 11100C/T). Genotype distributions among patients were in Hardy-Weinberg equilibrium for all polymorphisms. RESULTS: Among the five SNPs studied, the frequencies of the T allele and the TT genotype of IL-1alpha (-889C/T) were significantly higher among patients with GO than those without GO (odds ratio [OR] = 2.16, 95% confidence interval [CI] = 1.25-3.74; P = 0.006 and 5.67, 95% CI = 1.66-49.34; P = 0.005, respectively). For IL-1RA (Mspa-1 11100C/T), the frequencies of the C allele and the CC genotype were significantly higher among patients with GO (OR = 2.31, 95% CI = 1.34-4.00; P = 0.004 and 6.73 95% CI = 1.94-23.36; P = 0.004, respectively; P < 0.01). No significant association was found for other SNPs. CONCLUSION: This is the first study to show a positive correlation between polymorphisms in the IL-1alpha and IL-1RA genes and susceptibility to GO. These findings promote further research into genetic correlates of GO.

HLA class II (DRB, DQA1 and DQB1) allele and haplotype frequencies in the patients with pemphigus vulgaris.

INTRODUCTION: Pemphigus vulgaris (PV), an autoimmune disease affecting the skin and mucous membranes, is associated with some human leukocyte antigen (HLA) class II alleles and haplotypes. MATERIALS AND METHODS: In order to evaluate the association of HLA-DR and DQ alleles and haplotypes in Iranian non-Jewish patients with PV, 52 patients with PV and 180 normal subjects as control group were investigated in this study. RESULTS AND DISCUSSION: HLA-DRB1*04, -DRB1*1401, -DRB4, -DQA1*0104, -DQA1*03011, -DQB1*0302, and -DQB1*0502 alleles have been significantly increased in our patients group. Moreover, the haplotypes HLA-DRB1*04/-DQA1*03011/-DQB1*0302 and HLA-DRB1*1401/-DQA1*0104/-DQB1*0502 increased significantly in our patients. In contrast, the following alleles decreased significantly in our patients: HLA-DRB1*15, -DRB1*0301, -DRB1*07, -DRB1*11, -DRB5, -DQA1*0101, -DQA1*0103, -DQA1*201, -DQA1*05, -DQB1*0201, -DQB1*0301, -DQB1*06011, and -DQB1*0602. In addition, HLA-DRB1*15/-DQA1*0103/-DQB1*06011, HLA-DRB1*0301/-DQA1*05011/-DQB1*0201, HLA-DRB1*07/-DQA1*0201/-DQB1*0201, and HLA-DRB1*11/-DQA1*05/-DQB1*03011 decreased significantly in our patients. Genetic factors are involved in the occurrence of PV; HLA-DRB1*04 and -DRB1*1401 alleles and the related haplotypes are suggestive to be two major PV susceptibility factors in our population study.

Cytokine single nucleotide polymorphisms in Iranian populations.

Cytokines are important immunomodulatory molecules involved in immune responses against microorganisms; they also have an important role in the setting of immune system disorders. Cytokine single nucleotide polymorphisms have been extensively studied in different, normal populations as well as in association with disease. Cytokine gene polymorphisms are potentially important as genetic predictors of disease susceptibility, clinical outcome, and as a tool for anthropological studies. In this study, samples have been collected from 455 healthy individuals located in different regions of Iran (Tehran, Yazd, Sistan and Balochistan). Allele and genotype frequencies of cytokine SNP, including: IL-1alpha, IL-1beta, IL-1R, IL-1RA, IL-2, IL-4, IL-4RA, IL-6, IL-10, IL-12, TNF-alpha, TGF-beta and IFN-gamma were investigated, using the PCR-SSP method. Allele frequencies in Tehran and Yazd populations were similar, except for TGF-beta. Allele frequencies in Sistani & Baloch populations were similar at all positions, except for IL-1beta at position of -511 and IFN-gamma genes at position UTR5644; there were some differences in allele frequencies comparing these populations with the Yazd population, including: IL-4, IL-6, IL-10, TGF-beta and TNF-alpha. Although some significant differences were observed for some cytokines, it seems that the cytokine gene polymorphism profile of the Iranian population is similar to that of Caucasians, particularly the Italian population.

Determination of HLA-B27 subtypes in Iranian patients with ankylosing spondylitis.

The human leukocyte antigen-B27 is one of the class I molecules of the major histocompatibility complex which is strongly associated with ankylosing spondylitis (AS). The strength of the disease association with B27 varies markedly among racial and ethnic populations. It is an allele family, which constitutes about 31 subtypes, with a considerable geographic and ethnic difference in distribution. It is important to know whether certain subtypes show any preferential association with AS. Because there is no report regarding HLA-B27 subtypes in Iranian patients with AS, the main purpose of the present study was to assess the frequency of subtypes of human leukocyte antigen (HLA)-B27 in patients with ankylosing spondylitis in Iranian populationOne hundred and nineteen AS patients (82 HLA-B27 positive and 37 HLA-B27 negative) were selected for this study. HLA-B27 positive patients were screened by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) for B*27 subtyping.The results of present study revealed that only two subtypes were detected in Iranian patients, including B*2705 (52 patients, 63.4%) and B*2702 (30 patients, 36.6%). Our results showed a restricted number of HLA-B27 subtypes associated with AS in Iran and an elevated frequency of the B*2705 allele in these patients similar to other Euro-Caucasoid (Aryan) groups in the world.

Serum pepsinogen I, pepsinogen II, and gastrin 17 in relatives of gastric cancer patients: comparative study with type and severity of gastritis.

BACKGROUND & AIMS: First-degree relatives of gastric cancer patients are at risk for developing precancerous conditions. The aim of this study was to investigate the potential of biomarkers pepsinogen I (PGI), pepsinogen II (PGII), their ratio (PG I:II), as well as gastrin 17 for screening of precancerous conditions and corpus predominant gastritis. METHODS: First-degree relatives of gastric cancer patients underwent endoscopy. Three biopsy specimens from the antrum and 3 from the corpus were evaluated according to the Sydney classification. Serum was taken for the measurement of fasting PGI, PGII, and gastrin 17 by enzyme-linked immunosorbent assay kits. RESULTS: A total of 481 patients were examined (age, 47.8 +/- 6.7 y). With the extension of gastritis, PGII was increased up to 2.5 times (6.6 +/- 2.8 microg/mL in normal mucosa, 9.5 +/- 6.7 microg/mL in antral gastritis, and 16.9 +/- 12.4 microg/mL in corpus-predominant gastritis; P < .01), PGI increased slightly (88.3 +/- 29.4 microg/mL in normal mucosa and 111.2 +/- 71.4 microg/mL in corpus-predominant gastritis), and gastrin 17 was increased substantially in corpus-predominant gastritis (15.3 +/- 19.5 pmol/mL vs 3.8 +/- 5.7 pmol/mL in normal mucosa). By using a cut-off value of 7.5 microg/mL for PGII, any type of gastritis from normal mucosa can be diagnosed with a sensitivity and specificity of 80%. The sensitivity and specificity of the PG I:II ratio (< or =3) and gastrin 17 (>17 pmol/mL) together were 9.4% and 99% for screening corpus-predominant gastritis and 14.8% and 97.8%, respectively, for screening intestinal metaplasia in the corpus. CONCLUSIONS: PGII is a suitable marker for screening any gastritis from normal mucosa, but neither PGI, the PG I:II ratio, gastrin 17, nor their combination were able to select those with precancerous conditions and corpus-predominant gastritis among the first-degree relatives of gastric cancer patients.

HLA class II allele and haplotype frequencies in Iranian patients with leukemia.

Previous studies demonstrated significant differences in a number of HLA allele frequencies in leukemia patients and normal subjects. In this study, we have analyzed HLA class II alleles and haplotypes in 110 leukemia patients (60 acute myelogenous leukemia "AML", 50 chronic myelogenous leukemia"CML") and 180 unrelated normal subjects. Blood samples were collected from all of the patients and control subjects. DNA was extracted by salting out method and HLA typing was performed using PCR-SSP method. Significant positive association with AML was obtained for HLA-DRB1*11allele (35% vs. 24.7%, P=0.033). Two alleles including HLA-DRB4 and -DQB1*0303 were significantly less frequent in AML patients than in controls. HLA-DQB1*0303 allele was never observed in CML patients compared with allele frequency in controls (4.2%). According to haplotype analysis, HLA-DRB1*0101/DQA1*0104/-DQB1*0501 frequencies were significantly higher and -DRB1*16/-DQA1*01021/-DQB1*0501 frequencies were significantly lower in CML patients than in controls. In conclusion it is suggested that HLA-DRB1*16 allele and HLA-DRB1*15/-DQA1*0103/-DQB1*06011 and -DRB1*16/-DQA1*01021/-DQB1*0501 haplotypes predispose individuals to AML and HLA-DRB4 allele predispose to CML. Future studies are needed to confirm these results and establish the role of these associations in AML and CML.

Role of B cells in pathogenesis of multiple sclerosis.

Despite the current limited understanding of the etiology of multiple sclerosis (MS), genetic susceptibility and environmental influences are known driving factors. MS is considered a T-cell-mediated disease given the prevalence of T cells in plaques. Plaque formation is characteristic of this disease attributable to immune mechanisms, triggered by an autoimmune attack aimed at antigens in the myelin sheath or oligodendrocyte proteins. The attack consists of the following: The role of the B cells is twofold: first, as autoreactive B cells they produce autoantibodies, secrete cytokines, clonally replicate memory B cells, and long-living plasma cells which serve to advance the diseased state by their constant production of autoantibodies. Second, as antigen-presenting cells they activate the autoreactive T cells. For this reason, the stipulation that T cell is the cornerstone of MS must be reevaluated. Various studies on pathogenesis of MS have indicated that B cells, as the humoral component of the adaptive immune system, are active participants in pathogenesis and lesion maintenance throughout the disease process. The active role of B cells and autoantibodies makes them an encouraging therapeutic target. Advances in the understanding of B-cell development and activity would allow for an enhanced strategy in the design of autoimmune treatment. For this reason, further investigation is necessary to determine whether depletion of B cells or antibodies may restore immune function.

Association of HLA class II allele and haplotype frequencies with chronic myelogenous leukemia and age-at-onset of the disease.

Chronic myelogenous leukemia (CML) is characterized by the presence of Philadelphia chromosome resulting from bcr/abl translocation. To clarify the association between HLA class II allele and haplotype frequencies in CML, 50 patients referred to Hematology Oncology and Bone Marrow Transplantation (BMT) center, Shariaty Hospital, Tehran, Iran, were randomly selected and compared with a group of 80 unrelated healthy blood donor subjects. HLA class II alleles were determined by PCR-SSP method. The results showed that the frequencies of DQB1*03011 (P=0.01) and DQA1*0505 (P=0.05) were higher, while that of DQB1*03032 (P=0.04) was lower in patients than in the controls. Regarding age-at-onset, the frequency of HLA-DRB1*07 (P=0.03) and -DQA1*0201 (P=0.03) alleles were higher in patients younger than 35 years. The most frequent haplotypes in our CML patients were HLA-DRB1*11/-DQB1*03011/-DQA1*0505 (P=0.01) and HLA-DRB1*04/-DQB1*0302/-DQA1*03011 (P=0.02). In conclusion, it is suggested that positive and negative association in certain HLA alleles and haplotypes exist in Iranian patients with CML.

Cytokine single nucleotide polymorphisms in Iranian patients with pulmonary tuberculosis.

BACKGROUND: Several genes coding for different cytokines may affect host susceptibility to tuberculosis. METHODS: In the present study, the allele and genotype frequencies of a number polymorphic genes coding for cytokines or cytokine receptors were investigated in Iranian patients with pulmonary tuberculosis (PTB). RESULTS: From the IL-1 cluster, a positive, significant difference was found at position -889, where the T/T genotype was over represented in PTB patients (p = 0.01); a positive, significant increase was found in the IL1R PstI 1970 C/C genotype, where the C allele was over represented in the PTB patients (p = 0.01). A significant negative association at codon 10 TGF-beta, T allele, was shown in our patients and the C allele and C/C genotype were over represented in the PTB patients (P<0.005). For TNF-alpha at position -238, we found a negative association for the G/A genotype and a positive association for the G/G genotype (p = 0.0009). Significant negative associations at position -590 IL-4, T allele and the T/T genotype were shown in our patients (p = 0.0007); also, the C allele and T/C genotype were significantly increased in our patients (P<0.05). With IL-6 at -174, G/G increased and G/C decreased significantly in the patients (P<0.005). CONCLUSION: Pro-inflammatory cytokines such as TNF-alpha and TGF-beta seem to be decreased, and IL-6 increased in PTB patients.

HLA class II allele and haplotype frequencies in iranian patients with acute myelogenous leukemia and control group.

Previous studies have demonstrated some significant differences in HLA allele frequencies in leukemic patients and normal subjects. We have analyzed HLA class II alleles and haplotypes in 60 Iranian patients with acute myelogenous leukemia (AML) and 180 unrelated normal subjects. Blood samples were collected after obtaining informed consents. From the patients and control DNA extraction and HLA typing were performed using PCR-SSP method. Significant positive association with the disease was found for HLA-DRB1*11 allele (35% vs. 24.7%, p=0.033). Two alleles including HLA-DRB4 and -DQB1*0303 were found to be significantly decreased in patients compared to controls. Regarding haplotype analysis, no significant association was found between case and control groups. It is suggested that HLA-DRB1*11 allele plays as a presumptive predisposing factor while the HLA-DRB4 and -DQB1*0303 alleles are suggested as protective genetic factors against acute myelogenous leukemia. Larger studies are needed to confirm and establish the role of these associations with acute myelogenous leukemia.

Influence of HLA on progression of optic neuritis to multiple sclerosis: results of a four-year follow-up study.

BACKGROUND: Genetic predisposition in multiple sclerosis (MS) has always been a critical concern in aetiology and progress of the disease. The present study looks into the relations between human leukocyte antigen (HLA), optic neuritis (ON) and MS in the Iranian population. METHODS: Patients with potential diagnosis of acute ON underwent a standardized clinical examination for confirming the diagnosis. Selected patients were gathered for HLA typing and clinical follow up. RESULTS: Of the 55 patients, 46 (83.6%) were female. The mean age was 25(+/-7.3) with a range of 12-43. Twenty of the 55 (36%) were confirmed for the diagnosis of clinically definite MS (CDMS). Results show that A23, B21, A11 and B51 alleles were present in 4 (20%), 6 (30%), 2 (10%) and 1 (5%) of the CDMS patients, respectively. Ten (50%) and 17 (85%) CDMS patients were positive for HLA class II alleles, DR2 and DQ1, correspondingly. CONCLUSIONS: The study strongly suggests the association among DR2, A23 and B21 allele and the evolution of ON to MS. High prevalence of A23 and DR2 alleles in CDMS patients compared with the normal population may suggest an important role for these alleles in the development of MS. The study suggests B51 as a protective factor against development of ON in the normal population. In addition, results do not confirm previous studies considering A11 as a predisposing factor. The present study finally evokes that different classes of HLA have different roles in susceptibility to MS and confirms disease heterogeneity as an important emerging concept in MS.