1.Impact of ADRB2 gene rs1042713 and rs1042714 polymorphisms on COPD
Chimedlkhamsuren G ; Jambaldorj J ; Odonchimeg P ; Ichinnorov D ; Sarantuya J
Mongolian Medical Sciences 2016;175(1):17-20
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.
2.VEGF-A and ARMS2 gene polymorphism on AMD susceptibility
Ariunzaya A ; Chimedlkhamsuren G ; Suvd T ; Sarantuya J ; Uranchimeg D ; Baasankhuu J
Innovation 2019;13(1-Ophthalmology):10-13
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.
3.Clinical features of ophthalmology in thyroid disease
Oyungerel B ; Erdenezul G ; Misheel B ; Uranchimeg D ; Chimedlkhamsuren G ; Nomin-Erdene M ; Sarantuya J
Innovation 2021;14(2-Ophthalmology):6-10
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.
4.Influence of rs16924159 polymorphism of IL-33 gene on asthma susceptibility
Chimedlkhamsuren G ; Uyangakhorol N ; Batbold O ; Ichinnorov D ; Sarantuya J
Innovation 2020;14(2):67-71
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.