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Background@#TED (thyroid eye disease) is an inflammatory disease of the orbit caused by autoimmune diseases of the thyroid, which adversely affect the vision, appearance, and quality of life. Exophthalmos and eyelid retraction are the main features of TED, which can lead to ocular motility, diplopia, optic neuropathy, and permanent vision loss. The study aims to determine the most common clinical signs of TED in Mongolians and define whether there is a correlation with the levels of thyroid autoantibodies.@*Methods@#The study involved 102 patients with TED and 81 patients with Graves’ ophthalmopathy. The clinical features of TED were identified and evaluated by activity score (CAS) and severity of GO using the European Group of Graves’ Orbitopathy (EUGOGO).@*Results@#The mean age of TED patients was 42.6±11.2, which was younger than GD patients (P=0.012). The current smoker was 24 patients (23.5%) with TED, which is relatively higher than GD (P=0.0001). The most common ocular signs were eyelid retraction 80 (78.4%), proptosis 77 (75.5%), diplopia 14 (13.7%) and 4% vision loss. There were no differences in proptosis between the right (18 mm, median) and left eye (17.8 mm, median) (P>0.05). The mean CAS score was 3.09±1.72 and varied depending on gender and smoking. According to EUGOGO, 62.7% of the patients were moderately severe. Only 7 % of the patients were in the sight-threatening stage, presenting optic neuropathy and corneal breakdown. The mean TSI level in patients with TED was 37.95 ± 35.41 IU / ml, which was 2.7 times higher than the mean in patients with GD.@*Conclusions@#Eyelid retraction and exophthalmos are the most common clinical signs of TED. Early diagnosis of these features can prevent complications of the disease. Determining serum TSI levels will help in the treatment and monitoring of TED.
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Background@#Interleukin-33 (IL-33) cytokine plays a crucial role in asthma pathogenesis. Recent studies have established that IL-33 activity was increased in serum, airway smooth muscle and epithelial cells from patients with asthma and this increase positively correlates with asthma severity. We hypothesized that several genetic variations that contributing IL-33 expression and activity, which may risk factor for susceptibility to asthma. In this study, we examined the association between rs16924159 single nucleotide polymorphism (SNP) of IL-33 gene and asthma susceptibility.@*Methods@#51 asthma patients and 54 healthy volunteers were involved in this case-control study. Blood sample was collected for genomic DNA extraction. rs16924159 SNP genotyping was performed by the allele specific-polymerase chain reaction (AS-PCR) method. Statistical analysis was performed using STATA 13.0 software.@*Results@#The groups were matched for age, gender and body mass index (p>0.05). The distribution of rs16924159 allele and genotypes among patients and controls was found in accordance with those expected by the Hardy-Weinberg equilibrium (p=0.088). Adenine (A) allele frequency of rs16924159 was significantly different between case and control groups (OR = 1.91, 95% CI = 1.04- 3.51, p = 0.037). Also, homozygote A/A (OR=6.53, 95% CI 0.68-62.38, p=0.104) and heterozygote (OR=2.08, 95% CI 0.93-4.62, p=0.073) genotypes were more frequent among asthma patients than in controls.@*Conclusions@#From these findings, we conclude the A allele of rs16924159 SNP in IL-33 gene may be contributing to asthma susceptibility, increasing the carrier`s risk to the development of asthma.
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Background@#Age-related macular degeneration (AMD) is an eye condition, that occurs people aged above 50, leads to gradual loss of the vision because of a damage in the macula, which is located in the center of the retina. Several polymorphisms in different genes have been proposed as factors that increase the disease susceptibility. Therefore, we investigated the association between rs833061 polymorphism of VEGF-A gene and rs10490924 polymorphism of ARMS2 gene and AMD in order to analyze with other similar studies by meta analysis.@*Purpose@#To investigate the polymorphisms of VEGF-A gene and ARMS2 gene on AMD susceptibility@*Methods@#is case-control study was conducted on 74 AMD patients and 32 unaffected age-and gender-matched control individuals. Genomic DNA was extracted from the peripheral venous blood. The single nucleotide polymorphisms were identified by restriction fragment length polymorphism (RFLP) method and results confirmed by gel electrophoresis. The REVIEW MANAGER 5.2 software and MetaXL was used for meta-analysis@*Results@#We did not find statistically significant differences in С allele and СС genotype frequency of rs833061 polymorphism of VEGF-A gene between patients and controls. However, analysis of rs10490924 polymorphism of ARMS2 gene shows that T allele (OR=2.72, 95% CI, 1.47 – 5.02, p=0.001), TT genotype (OR=4.54, 95% CI, 1.49 – 13.87,p=0.019) were significantly associated with AMD risk. Haplotype analysis of these SNPs showed that C+T haplotype was statistically significantly different (OR=5.23, 95% CI, 1.76-15.54, p=0.002) between patients and controls.@*Conclusion@#As shown by results, rs10490924 polymorphism of ARMS2 gene show that T allele, TT genotype and C+T haplotype were significantly associated with AMD risk In meta-analysis, T allele of rs10490924 polymorphism of ARMS2 gene was significantly associated with AMD risk in all ethnicity that include Asian and Caucasian. However, T allele prevalence was higher in Asians.
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IntroductionMany factors can contribute to the occurrence of COPD. Recent studies have pointed to the notion thatpolymorphism of candidate genes may also play a signifi cant role in COPD pathogenesis.GoalTo investigate the association of polymorphisms in ADRB2 and TNF-α genes with COPD.Materials and MethodsWe genotyped three SNPs included rs1042713 and rs1042714 in ADRB2, rs1800629 in TNF-α gene,using PCR-RFLP method.ResultsThere is no statistically signifi cant difference was observed for TNF-α rs1800629 between case andcontrol groups. Genotype frequency of the homozygote Gly16 (rs1042713) was more frequent in COPDpatients than controls (OR=3.25; 95%CI, 1.58–6.66, p=0.0037). Also, haplotype frequency of Gly/Gly16+Gln/Glu27 was signifi cant difference among cases and controls (OR=5.03; 95%CI, 1.8–14.2,p<0.01).Conclusion:Overall, ADRB2 rs1042713 and rs1042714 polymorphisms are associated with increased susceptibilityto the development of COPD. Further studies in large groups of patients with COPD are needed toaddress other genetic risk factors.