Tehran University Medical Journal

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Background: Uterine myomas are benign tumors of the uterus and the most common solid pelvic tumors causing symptoms in approximately 25% of women in their reproductive years. However, its etiology and pathogenesis remain obscure there is increasing evidence that endometriosis is inherited as a complex genetic trait. Recent studies indicated the involvement of glutathione S-transferase M1 (GSTM1) gene in the pathogenesis of this disease and current investigations are devoted to the other members of phase II detoxification system genes such as glutathione S-transferase T1 (GSTT1). Therefore, current study was carried out to investigate the distribution of GSTM1 and GSTT1polymorphisms in Iranian population in order to estimate possible impact of null-alleles of each gene in development of this disease. Methods: In this study, 50 patients with endometriosis diagnosed by both pathology and laparoscopic findings according to the revised American Fertility Society classification of endometriosis were recruited from subjects referred to the Pasteur Institute of Iran between November 2012 to September 2013. Accordingly, controls (n=50) were subjects without any of aforementioned gynecologic conditions. The genomic DNA was extracted from peripheral blood leucocytes using the salting out method and GSTM1 and GSTT1 genotyping for gene deletions were carried out using Gap-polymerase chain re-action. Logistic regression analysis was applied to assess whether there was any significant risk increase between the case group with higher null genotypes compared to control group. The level of statistical significance was set at 0.05 and all analyses were conducted using the SPSS version 18.0 (SPSS Inc., Chicago, IL). Results: There was significant evidence that the distribution of the GSTM1 and GSTT1 genotypes differed between the patients and the controls with an allelic odds ratio (OR) of 3.56 (95%CI: 1.35-9.37, P=0.01) and 3.92 (95%CI: 1.4-10 P=0.009) respectively. Data analysis also revealed that individuals with both GSTM1 and GSTT1 null genotypes (-/-) had higher risk to develop the disease in comparison to the people with the both present (+/+) genotype (OR:19.23, P=0.007). Conclusion: The findings suggest that the GSTM1 and GSTT1 genetic polymorphisms are associated with the development of endometriosis in Iranian women which is in agreement with previous results obtained in other populations. However, the ethnic variations of polymorphisms should be evaluated in detail and differences should be incorporated into investigations of susceptibility variants for this disease.

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Background: Approximately 50% to 80% of women experience varying degrees of postpartum depression. Oxidative stress is involved in many diseases, including depression. Common production of lipid peroxidation by oxidative stress is malondialdehyde (MDA). The endocannabinoid system is a nervous regulator and convoy the impression that the circulatory levels of endocannabinoid is significantly reduced in depressed women. The major purpose of this paper was to evaluate activity of the major antioxidant and endocannabinoid index in postpartum depression. Methods: A total of 130 women were entered in a case-control study in 12 Bahman Health Center from April 2011 to August 2011. In 4th to 6th week after delivery, women were equally divided into 2 groups based on Edinburg questionnaire (normal and postpartum depressive women). Serum MDA, total antioxidant capacity (TAC) and RBC catalase levels were determined to investigate the oxidative status. In addition, Mass spectrometry was applied for the analysis of serum anandamide (AEA) and 2-Arachidonoylglycerol (2-AG). Results: Based on Edinburg questionnaire, however, women age, husband age, husband marital number, gravidity, children number, salary and house size have no significant effect on postpartum depression, marital period was significantly increased postpartum depression (P< 0.05). In addition, women education, husband education, wanted or unwanted pregnancy from women, neonatal sex, satisfaction of neonatal sex from women and husbands, breast feeding and delivery have no significant effect on postpartum depression, and women Job (P< 0.001), husband job (P< 0.001), wanted or unwanted pregnancy from husbands (P< 0.05) were significantly changed postpartum depression. Serum MDA and RBC catalase levels were not significantly higher in depress compared with the normal group. TAC was significantly decreased in patients having postpartum depression (P< 0.05). Serum AEA and 2-AG levels were significantly lower in depress compared with the normal group (P< 0.01). Conclusion: Women’s Job, husband’s job, wanted or unwanted pregnancy from husbands and marital period are associated to postpartum depression. In postpartum depression, TAC, AEA and 2-AG are reduced. So it can be concluded that both antioxidant system and endocannabinoid concentration involved in the development of postpartum depression.

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Background: The major issue to address in endometriosis etiology is to identify the genetic changes in the disease and their occurrence in different populations. Uncovering these genetic changes may be important in developing potential biomarkers for early diagnosis and prognosis of endometriosis. Among all endometriosis susceptibility genes studied before, convincing association has been found with variants in the estrogen receptor alpha (ESR1) gene and this disease however, the contributions of these genetic variants in different populations and ethnic groups are not similar. Accordingly, this study was carried out to replicate the previous findings to assess whether this polymorphism is associated with endometriosis in Iranian women. Methods: A case-control study was designed to determine the possible association between ESR1-351A>G variant and occurrence of endometriosis. The study group consisted of 100 subjects diagnosed with endometriosis as case group and 100 fertile women without endometriosis as controls recruited from subjects referred to the Tehran Women’s General Hospital between January to September 2013. All subjects were genotyped for this marker using amplification refractory mutation system- polymerase chain reaction (ARMS-PCR). Association of risk allele (G) with endometriosis was as-sessed using PLINK software after age adjustment. Results: The results showed that the genotype frequencies were in Hardy-Weinberg Equilibrium (HWE) in both case (F=0.04, P:0.67) and control (F=0.02, P:0.83) groups. In addition, there were no significant differences between case and control groups in terms of genotype frequencies (P=0.17). Moreover, the results indicated that the presence of risk allele (G) did not significantly increase risk of endometriosis (OR: 1.43, 95%CI: 0.96-2.13, P=0.07). Conclusion: The results do not support the previous findings of an association between -351A>G genetic polymorphism in ESR1 gene and endometriosis. Therefore, comprehensive genetic approaches including linkage analyses and family-based tests, together with a number of replication studies with large sample size, are needed to make conclusive claims about the role of this genetic polymorphism in susceptibility to endometriosis.

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Background: Polymorphisms of the upstream transcription factor 1 (USF1) have been associated with familial combined hyperlipidemia (FCHL), type 2 diabetes and coronary heart diseases (CHD). In the current investigation, the association of USF1s2 variant of human USF1 gene with premature coronary artery disease (PCAD) was evaluated in a population from southern Iran. USF1s2 has the best potential as a functional variant .in the USF1 gene. Methods: In a case-control study USF1s2 variant of human USF1 gene was determined by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique using BsiHKA I restriction enzyme for 186 women under 55 years of age and 135 men less than 50 years of age who underwent diagnostic coronary angiography in Saadi, Nemazee and Kowsar Hospitals of Shiraz, between July 2009 and March 2012. Data on the history of familial myocardial infarction or other heart diseases, hypertension, and smoking habit were collected by a simple questionnaire. Blood sugar level and serum lipid profile of all participants were also obtained by measuring the levels of fasting blood sugar (FBS), total cholesterol (TC), triglycerides (TG), low density lipoprotein (LDL) and high-density lipoprotein cholesterol (HDL). Results: Frequencies of the major (G) and minor (A) alleles of usf1s2 gene variant were 0.74 and 0.26 in the whole population, respectively. Meanwhile, the prevalence of the minor allele was significantly higher in PCAD patients compared with control subjects. This difference remained significant even after adjustment for confounding parameters. Indeed, subjects with mutant homozygous genotype (AA) were about 5 times more likely to suffer from early-onset CAD than those with wild-type homozygous genotype (GG). Moreover, the baseline characteristics of the control subjects and patients were statistically similar for almost all parameters except for the number of male individuals there was no significant difference among various genotypes in the patient group for any of these investigated variables. Conclusion: It appears that the usf1s2 variant in upstream transcription factor 1 gene is an independent predictor of premature coronary artery disease in our population and applies its effects without affecting blood sugar and lipid levels.

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Background: Hyperemesis gravidarum (HG) starts between four and seven weeks after the first day of the last period, and ends at twenty weeks of pregnancy. The etiology of HG, is unknown. Recent studies worldwide show the Helicobacter pylori (H. pylori) infection as a possible cause of the severe nausea and vomiting in pregnancy, recent studies showed H. pylori to have a role in occurrence of it during pregnancy. The current study assessed the immunoglobulin G (IgG) and immunoglobulin M (IgM) titer to H. pylori in pregnant women with HG. Methods: This is a case-control study of the pregnant patients of a gynecologist's office in the Marvdasht city from April to September 2013. One hundred and twenty three patients were randomly chosen based on their conditions and were divided into two groups (case n1= sixty three and control n0= sixty). The IgG and IgM titers against H. pylori were measured by ELISA method. Data analysis was performed using Chi-square test, Mann-Whitney U-test, and T-test in SPSS software, version 20 (SPSS, Inc., Chicago, IL, USA). The significant level of the test was considered (P= 0.05). Results: Totally, 123 pregnant women were evaluated 63 women with hypermesis gravidarum and 60 without HG. Forty nine women out of 63 in HG group and 48 women in the control group were IgG positive for H. pylori. Also, mean serum level of IgG was 51.6 in the HG group (P= 0.685). Twelve women out of 63 in HG group and 20 women in the control group were IgM positive for HP. Also, mean serum level of IgM was 27.7 in the HG group (P= 0.675) Except for the mother's blood type, there were no other statistically significant differences found between the two types of antibodies against H. pylori. Conclusion: There is no relationship between helicobacter pylori and hyperemesis gravidarum in pregnant woman. Considering the high prevalence of H. pylori infection in our country, there is a need for studies with more samples and more diagnostic methods.

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Background: In this study were focused on corneal cells changes in keratoconus disease, as there are differences between results of other studies that were done on keratokonic eyes. And the chief purpose was a comparison between keratoconus and normal population based corneal endothelium (in cell density, pleomorphism and polymegethism of cells). Methods: This study is an observational study and is a case-control type. This study was done in Farabi Ophthalmology Hospital, Tehran, from September 2013 to February 2014. In this study, 26 mild (corneal power is lower than 48 diopter) and moderate (corneal power is between 48 to 54 diopter) keratoconic eyes (case group) with no history of contact lenses wear or eye surgeries were compared with 25 normal eyes (control group) that corneal power based topographic images is lower than 47.2 diopter. This comparison were done based specular microscopy images which were taken by Noncontact (Topcan Sp-2000 P) specular microscope in 5 corneal regions (central, superior, inferior, nasal, temporal). Then the information related to the cell density, Coefficient of Variation (CV) of polymegethism and pleomorphism of cells were analyzed by SPSS software, version 21 (SPSS, Inc., Chicago, IL, USA). Results: Superior corneal region has the largest amount of endothelial cell density in case and control groups (P<0.001). But the effects of keratoconus on the cell density was not significant (P=0.96). And also CV of polymegethism in two groups (case and control groups), was similar (P=0.828). Pleomorphism was seen in 7 eyes of 26 eyes in case group (26.9%) and 6 eyes of 25 eyes in control group (24%). Conclusion: Keratoconus does not have any considerable effect on cell density, polymegethism and pleomorphism, in mild and moderate stages and corneal opacity risk caused by intraocular surgeries (such as: Cataract or Glaucoma surgeries) and some diseases (such as diabetes and uveitis) is similar in keratoconic and normal eyes.

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Background: Protozoa are unicellular eukaryotes. A type of intestinal protozoan pathogens is the cause of infection and serious injuries in human with or without clinical symptoms. It seems that parasitic infections as a stressor factor can affect on stress system activity and immune system function and sensitivity. The major purpose of this paper was to evaluate serum cortisol level and the general inflammation by measuring neutrophil to lymphocyte ratio in patients with intestinal protozoa. Methods: A total of 40 men were entered in a case-control study in Besat and Baqyiatallah (a.s.) Hospitals in Tehran from April to September 2014. Men were equally divided into 2 groups based on infection with the intestinal protozoa (control and patient groups). This study was conducted on blood samples of these people. Serum cortisol level and neutrophil to lymphocyte ratio were determined in control and patient with the intestinal protozoa groups. Cortisol was measured using cortisol kit (Diagnostic Biochem, Canada) and by ELISA method. In addition, the samples were treated with Wright stain method, and neutrophil to lymphocyte ratio was calculated using WBC diffraction method. Results: According to the results of this study, mean age between control and patient groups was not statistically significant (P= 0.91). Serum cortisol concentration in patients with the intestinal protozoa was significantly higher than the control group (P= 0.043). In addition, a significant increase was observed in neutrophil to lymphocyte ratio in patients with parasitic infections compared to the control group (P= 0.026). Conclusion: Based on the results of this study, parasitic infection (intestinal protozoa) as a stressor factor can increase serum cortisol concentration. In addition, intestinal protozoa was reduced immune system sensitivity and function. It seems that the neutrophil to lymphocyte ratio can be a potential useful parameters for evaluating the stress system activity and function in patients infected with the intestinal protozoa.

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Background: Low density lipoprotein (LDL) particles have shown to be heterogeneous structures with distinctive electrical charges. Alteration in the fatty acids content of the LDL particles is known to affect their structural features, electrical charges, and ultimately physiologic properties and, in this way, may play a role in the pathology of coronary artery disease (CAD). On the basis of evidences, in the present study, the relationship of fatty acids content of LDL particles and their electrical charge was assessed in patients with CAD in comparison with control subjects. Methods: In the current case- control study, from subjects who referred to the Mostafa Khomeini Hospital in Ilam during a time period from December 2013 to October 2014, 40 CAD patients and 40 control subjects were selected based on the clinical and angiographic parameters. The fatty acids content and electrical charges of LDL particles were measured by using a gas chromatography system, equipped with a flame ionization detector GC-FID, Acme 6000 M (Young Lin Co., Korea) as well as a Zetasizer (Malvern Instruments Ltd., UK), respectively. Results: In the present study, CAD patients and control subjects were matched for age, sex, and body mass index (BMI). The electrical charge amounts of LDL particles in the patients group was significantly lower than those in the control subjects (P= 0.0001). There was an inverse correlation between the electrical charge amounts of the LDL particles and the saturated fatty acids as well as linoleic acid contents of them in CAD patients group. However, we found a direct correlation between the unsaturated fatty acids (monounsaturated fatty acids and some of the polyunsaturated ones) content of the LDL particles and their electrical charge amounts (P= 0.02). Conclusion: Results of the present study demonstrated that the increased saturated fatty acids as well as the linoleic acid contents of the LDL particles are associated with decreased electrical charge amounts of these particles and this situation may engage in pathogenesis of CAD.

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Background: The major issue to address in obesity etiology is to identify the genetic changes in the disease and their occurrence in different populations. Uncovering these genetic changes may be important in developing potential biomarkers for early diagnosis and prognosis of obesity. Among all obesity susceptibility genes studied before, convincing association has been found with variants in the FABP2 gene and this disease; however, the contributions of these genetic variants in different populations and ethnic groups are not similar. Accordingly, this study was carried out to replicate the previous findings to assess whether a missense variation (rs1799883) in this gene is associated with obesity in the Tehran Lipid and Glucose Study (TLGS) population.

Methods: A case–control study was designed to determine the possible association between rs1799883 and occurrence of obesity “in phase IV of the study between the years of 2008 to 2011”. The study group consisted of 217 subjects with body mass index (BMI, kg/m2) greater than 30 as cases and 159 healthy individual as control group (1820). All subjects were recruited among the Tehran Lipid and Glucose Study (TLGS) participants in phase IV of the study between the years of 2008 to 2011. The genomic DNA was extracted from peripheral blood leucocytes using the salting out method and subsequently subjects were genotyped for this marker using The tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Association of risk allele with obesity was assessed using the SPSS software, version 20 (Chicago, IL, USA).

Results: The results showed no significant differences between case and control groups in terms of allele frequency (P=0.61). According to the findings, the presence of T allele as the risk allele was not associated with increased risk of obesity in carriers of this allele compared to individuals carrying the normal allele (OR=1.17; CI%95= 0.62-2.19, P=0.61).

Conclusion: The results did not support the previous findings of an association between genetic polymorphism in the FABP2 gene and risk of obesity. However, a number of replicated studies with other ethnicity are suggested to make a conclusion about the role of this genetic polymorphisms and susceptibility to obesity in Iranian population.

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Background: It is reported that high frequency of chromosomal aberrations in peripheral blood lymphocytes of individuals is a marker of cancer predisposition. The aim of this study was to investigate the in vitro frequency of chromosomal damage in lymphocytes of patients with head and neck cancer against gamma irradiation compared with those in healthy individuals.

Methods: In a case and control study, peripheral blood lymphocytes of 101 patients with head and neck cancer were collected before the onset of radiotherapy. Lymphocytes of 40 healthy individuals were also collected as controls. Head and neck cancer patients and the control group were consecutively recruited between April 2012 and February 2015 from Clinics of Cancer Institute, Imam Khomeini Hospital, Tehran, Iran. Lymphocytes of patients or control group were cultured and exposed to gamma radiation in G2- and G0- phase of the cell cycle. The induced chromosomal aberrations such as chromosome and chromatid breakages, chromosome and chromatid gaps, chromatid exchanges and micronuclei were scored in one-hundred metaphase cells of each individual. The mean of each chromosomal aberration was compared in patient and control groups. Early and late tissue reactions were scored during radiotherapy treatment or thereafter.

Results: There was no significant difference in demographic characterization between the two study groups. The frequency of radiation- induced G2 aberrations in lymphocytes of patients was significantly higher than in those of healthy donors (P= 0.001 for chromosomal breaks). The frequency of radiation-induced micronuclei in G0 assay was also higher in patients than in those in controls (P= 0.05). The results also indicate that there is no correlation between the two assays. No significant correlation was also observed between aberration frequencies in lymphocytes and the degree of both early and late normal tissue reactions.

Conclusion: The results indicate that the in vitro chromosomal radiosensitivity of peripheral blood lymphocytes of patients with head and neck cancer against gamma irradiation was significantly higher than that in healthy individuals.

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Background: Lots of vitamin D functions are mediated by its steroid family receptor (VDR). Vitamin D role in infertility is reported by significant fertility reduction in many male laboratory animals with vitamin D deficiency. The reason for reduced fertility in male VDR-null mouse model has been reported to be reduced sperm count and sperm motility. Vitamin D has effects on sperm motility, sperm-ovum coupling, and acrosome reaction stimulation. As VDR is expressed in human male reproductive system, the aim of the current study was to investigate the role of rs2228570 polymorphism of VDR gene in male infertility.

Methods: Investigation was done as a case-control study on infertile azoospermic or oligospermic men referring to Avicenna Research Institute from March 2014 to April 2015. Rs2228570 single nucleotide polymorphism (SNP) located in exon 1 of VDR gene was chosen according to its role on protein function. Blood sampling was done on cases and control groups and after DNA extraction the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) reaction was designed and performed on 100 normal cases, 100 azoospermic and 100 oigospermic control samples. Distribution of quantitative age variable was done using Student’s t-test and qualitative variables (genotype and allelic frequencies) was done using SPSS, ver. 22 (Chicago, IL, USA).

Results: Chi-square test didn’t show significant difference between two case groups and controls (Azoosperm and control P=0.5 and oligosperm and control P=0.09). Comparing CC genotype frequency with TT and CT genotypes (azoosperm and control P=0.48 OR=0.77, oligosperm and control, P=0.17 OR=0.77) and in comparing between TT genotype with CT and CC genotypes (azoosperm and control P=0.49 OR=3.03, oligosperm and control P=0.19 OR=7.21) the difference between these groups was not significant and didn’t increase the probability of disease and didn’t show protective role against it.

Conclusion: According to the findings, the association between rs2228570 polymorphism of vitamin D receptor gene and infertility was not significant and investigation of other polymorphisms might show a relationship with male infertility.

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Background: Breast cancer is one of the most prevalent cancers among women and features increasing trends of incidence rates. Worldwide, yearly about 1.67 million of new cases and 522,000 of deaths from breast cancer are registered. The aim of this study was to determine the risk factors of breast cancer in women and to identify high risk groups.

Methods: In a case-control study, 170 women with breast cancer who were registered in cancer registration system from 2011 to 2015 at Dezful City, Iran, were compared with 170 healthy women with confirmation of mammography. After age matching of groups, the needed information about risk factors and demographic information including information, educational level, marital status, family history of breast cancer, age at menarche, parity, oral contraceptive use, age at first pregnancy, menopausal status, and age at menopause, breastfeeding, stress, abortion, alcohol use and smoking, hormone therapy and physical activity was collected by a questionnaire. The analysis of collected data was performed by using odds ratio and logistic regression model and SPSS software, version 16 (SPSS, Inc., Chicago, IL, USA). The statistical significance was set at a two-sided p-value of %5.

Results: The results of this study showed that, women with the family history [OR: 6.78 (95% CI: 2.15-21.41)] and women with the stress history [OR: 4.86 (95% CI: 2.46-9.59)] had higher risk of breast canser, while women with the history of having physical activity at least once a week [OR: 0.29 (95% CI: 0.13-0.65)] and women with the history breast feeding for 3 to 4 years [OR: 0.36 (95% CI: 0.16-0.81)] had lower risk of breast cancer.

Conclusion: It is recommended that the mentioned risk factors and protective factors be considered in first and second level (screening) of preventive programs.

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Background: Thyroid cancer is the most common endocrine malignancy. Accounting for approximately 1-2% of all cancers. Thyroid cancers have been divided into four main types: papillary, follicular, medullary and anaplastic. The active form of vitamin D (1,25- (OH) 2-vitamin D3) by binding to its receptor, using genomic and non-genomic mechanisms inhibits the proliferative effect of TSH on thyroid cells. Therefore, vitamin D may have a role in regulating of thyroid gland cell proliferation. Many studies have shown anti-cancer effects of vitamin D in cancers. Polymorphisms of Vitamin D receptor can influence the prevalence to various cancers. In the present study, serum level of vitamin D and FokI, BsmI and Tru9I polymorphism of vitamin D receptor was investigated.

Methods: This case-control study was performed in the summer of 2015 in Endocrinology and Metabolism Center of Shahid Beheshti University of Medical Sciences, Tehran, Iran. Forty medullary thyroid cancer patients and 40 healthy controls were investigated. Genomic DNA of subjects was extracted with saturated salt/proteinase K and polymorphisms of vitamin D receptor gene investigated by polymerase chain reaction-sequencing. Serum level of vitamin D evaluated by ELISA technique. The results were analyzed by SPSS, ver. 20 (Chicago, IL, USA) and GraphPad Prism, ver. 5 (GraphPad, Inc., CA, USA) softwares.

Results: Genotypic and allelic abundance of FokI and BsmI polymorphisms between test and control groups have not shown significant different. In Tru9I polymorphism, Tt genotype abundance in test group were 45 percent and in control group were 17.5 percent and t allelic abundance in test group were 25 percent and in control group were 8.7 percent which this different were significant. Average serum level of vitamin D in test group was 23.32 ng/ml and in control group was 18.95 ng/ml which was statistically significant.

Conclusion: Unexpectedly, serum levels of vitamin D in test group were higher than control group. Tru9I polymorphism is significantly correlated to medullary thyroid carcinoma prevalence.

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Background: Systemic sclerosis (SSc) is an autoimmune rheumatic connective tissue disease. In normal wound healing process, fibroblasts are activated, proliferated and involved in tissue repair, and then removed by apoptosis. In systemic sclerosis, patient’s fibrosis occurs when fibroblasts become resistant to apoptosis and secrete a large amount of collagen and other extracellular matrixes. As the primary causes the disease are very complex and often unknown, it is necessary to consider or target the secondary causes of disease, such as the unresponsiveness of activated fibroblasts to apoptosis as the major factor in the creation and deployment of illness. In this study, we examined the expression levels of two key pro-apoptotic genes, Fas and Apaf-1, which are respectively involved in external and internal pathway of apoptosis.

Methods: In a case-control study skin biopsy samples were obtained from 19 patients with diffuse SSc, and 16 healthy controls. Dermal fibroblasts were cultured and total RNA was isolated from cell populations using High Pure RNA Isolation Kit (Roche Applied Science, Mannheim, Germany), followed by cDNA synthesis using RevertAid First Strand cDNA Synthesis Kit (Thermo Fisher Scientific Inc., Massachusetts, USA). Real-time PCR was performed using SYBRGreen gene expression master mix (Takara Shuzo, Co., Ltd, Shiga, Japan) and specific primers for Fas and Apaf-1. Real-time data were analyzed using the (2^-ΔCT)×1000 method. Statistical analysis was accomplished by using the SPSS software, v22 (IBM, Armonk, NY, USA). The P value less than 0.05 were recognized as a significant threshold. All data are represented as the mean ± SEM.

Results: Our results showed no significant difference in Fas (P=0.8) and Apaf-1 (P=0.17) mRNA expression levels between skin fibroblasts of systemic sclerosis patients and healthy controls.

Conclusion: In this study we observed no significant change in Apaf-1 and Fas mRNA levels in systemic sclerosis fibroblasts compared to control group. Hence, Apaf-1 and Fas are not transcriptionally activated in SSc fibroblasts. Further studies need to take place on protein levels and function of these proteins to confirm the mRNA transcription results.

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Background: Considering the high incidence and prevalence of nonalcoholic fatty liver disease (NAFLD) in the Iranian society and the limited number of studies to investigate its associated risk factors, the current study was designed to identify any relevant risk factor of this disease. Methods: The present case-control study was performed among 150 nonalcoholic fatty liver disease patients and 150 normal liver participants who attended to gastroenterology clinics in Ilam city, Iran during 2014-2015. All demographic data, clinical trials and health behaviors associated with lifestyle such as nutritional status, smoking, physical activities were collected and compared between two groups. Results: Among a total of 300 participants in the current study, the male female ratio was 46.54% and the mean±standard deviation of all participants was 42.13±12.15 years. The mean values of total cholesterol, triglycerides (TG), low density lipoprotein (LDL), alanine transaminase (ALT), aspartate aminotransferase (AST) and alkaline phosphatase (ALP) were significantly higher in cases than controls group (P< 0.0001). A significant relationship was revealed between positive familial history, marriage, and low physical activities with NAFLD (P< 0.05). In the patient's group, consumption of red meat was significantly higher and dairy intake was significantly lower compared to the control group (P< 0.05). Using the multivariate logistic regression analysis, the adjusted odds ratio for variables of waist circumference, triglyceride, ALT and body mass index (BMI) were statistically significant [1.11, (1.04-1.18); 2.58, (1.01-6.67); 5.34, (1.84-15.52) and 7.28,) 1.89-27.99) respectively] (P< 0.05). Also, a significant association was observed among the variables of ALT, AST and BMI with the severity grade of NAFLD (P< 0.05).

Conclusion: The results of this study showed that waist circumference, BMI, serum level of ALT and TG concentrations can predict the occurrence of non-alcoholic fatty liver disease. BMI, ALT, and AST seem to be associated with the ultrasonography staging of liver in NAFLD. Therefore, these parameters could be used to predict the ultrasonography staging of liver in these patients.

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Background: HLA disease association was investigated in several autoimmune, cancer and infectious diseases. The outcome of tuberculosis (TB) infection may be influenced by host genetic factors like MMP-1, MCP-1, IL-10, IL-12, TNF-α, IFN-γ and human leukocyte antigen (HLA). Given the paucity of information with regard to the association between the human leukocyte antigens (HLA) and TB infection among Iranians, we aimed to identify HLA polymorphisms that might confer susceptibility or protect against TB.

Methods: In this case-control study, to investigate the association between the HLA-DRB1 and DQB1 alleles and TB, 50 patients with tuberculosis were selected from Sistani population in Golstan University of Medical Sciences, Golestan Province, North East of Iran, from September 2015 to February 2016. Allele frequencies in patients were compared with a 100 aged and sex match control group from healthy blood donor of that ethnic population. HLA-DRB1 and -DQB1 alleles were determined using polymerase chain reaction based on sequence specific primer (PCR-SSP) method by low to intermediate resolution kits supplied by CTS (Collaborative Transplant Study, Heidelber University, Germany). Using EPI-info statistical software Chi-square test and fisher exact test, 95% confidence interval and odd ratio were calculated and allele frequencies in patients and control subjects were compared. P-value less than 0.05 were considering statistically significant.

Results: The results of this study showed a significant increase and positive association  with -DRB1*04:03 (OR=3.13, CI 95% (2.47-3.96), -DRB1*14:04 (OR=3.13, CI 95% (2.47-3.96), -DQB1*0201 (OR=2.67, CI 95% (1.18-6.04), -DQB1*0601 (OR=3.16, CI 95% (1.36-7.73) ,while the frequency of -DRB1*07 (OR=0.16, CI 95% (0.05-0.52) were lower in patients than control group and shows negative association.

Conclusion: The results of this study confirmed some of the previous positive and/or negative association, however it is suggested that HLA-DRB1*04:03, -DRB1*14:04, -DQB1*0201, -DQB1*0601- have an important role in susceptibility to tuberculosis infection and -DRB1*07 was associated with protection in Iranian Sistani population. Larger case-control sample size studies may be helpful to confirm our investigation. In addition population-specific studies is needed for evaluation of the role of HLA polymorphisms in tuberculosis in different ethnic groups.

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Results: Investigation of the association of p.Gly119Arg polymorphism in complement factor I gene with age related macular degeneration showed that there are statistically significant differences between patients and controls in genotype and allele frequencies of this polymorphism (P=0.005 and OR=6.68 in TT, P=0.04 and OR=0.61 in CC, P=0.03 and OR=1.76 in T, P=0.04 and OR=0.56 in C). Therefore CC, TT genotypes and C, T alleles were significantly associated with age related macular degeneration.

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