Study about the Relationship between TNF-Α-308G/A and Essential Hypertension in Specific Population-Taking Chinese Minority Zhuang in Guangxi as an Example

2013 ◽  
Vol 749 ◽  
pp. 149-153
Author(s):  
Xing Shou Pan ◽  
Ke Xing Lu ◽  
Tian Zi Li

objective: study the association between TNF gene and essential hypertension (EH) in Chinese minority Zhuang population. Method: select 170 normal as control group and 246 patients with EH as an object of study, use polymerase chain reaction - restriction fragment length polymorphism method to analyze polymorphic loci in the promoter region of TNF-α gene-308G / A allele, and genotype frequency distribution characteristics were analyzed, and the relationship between genetic susceptibility polymorphisms and EH was given.

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Xiao-li Liu ◽  
Jian-zong Du ◽  
Yu-miao Zhou ◽  
Qin-fen Shu ◽  
Ya-guo Li

Clinical and experimental data have demonstrated that inflammation plays fundamental roles in the pathogenesis of ischemic stroke. Interleukin-16 (IL-16) is identified as a proinflammatory cytokine that is a key element in the ischemic cascade after cerebral ischemia. We aimed to examine the relationship between theIL-16polymorphisms and the risk of ischemic stroke in a Chinese population. A total of 198 patients with ischemic stroke and 236 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. We found that the rs11556218TG genotype and G allele ofIL-16were associated with significantly increased risks of ischemic stroke (TG versus TT, adjusted OR = 1.88; 95% CI, 1.15–3.07; G versus T, adjusted OR = 1.54; 95% CI, 1.05–2.27, resp.). However, there were no significant differences in the genotype and allele frequencies ofIL-16rs4778889 T/C and rs4072111 C/T polymorphisms between the two groups, even after stratification analyses by age, gender, and the presence or absence of hypertension, diabetes mellitus, hypercholesterolemia, and hypertriglyceridemia. These findings indicate that theIL-16polymorphism may be related to the etiology of ischemic stroke in the Chinese population.


2020 ◽  
Vol 33 (10) ◽  
pp. 1293-1297
Author(s):  
Maryam Soltani asl ◽  
Parviz Azimnasab-sorkhabi ◽  
Ali-Akbar Abolfathi ◽  
Yashar Hashemi aghdam

AbstractObjectivesDiabetes is a serious disease, and the number of affected individuals with diabetes is considerably high. The aim of this study is the identification of NeuroD1 Ala45Thr polymorphism and its association with type 1 diabetes susceptibility in Iranian people.MethodsClinical and biochemical characteristics for 146 people (76 diabetics and 70 nondiabetics) were measured, such as fasting blood sugar, triacylglycerol, total cholesterol, age, and weight in each individual. Polymerase chain reaction-restriction fragment length polymorphism technique (MwoI restriction-enzyme) was used for genotyping of the NeuroD1 Ala45Thr polymorphism.ResultsIn this study, the frequency of the A allele in diabetic patients in comparison with the healthy control group had a significantly higher percentage (p < 0.01), whereas diabetic patients had the AA genotype, approximately four times more than the healthy control group (p < 0.01). In addition, we observed that fasting blood sugar had a higher concentration in the AA genotype than in AG + GG genotypes (p < 0.01).ConclusionsThe A allele may be a risk factor for the expansion of type 1 diabetes in the Iranian population. However, the NeuroD1 Ala45Thr polymorphism and its role in type 1 diabetes in different populations are controversial.


2018 ◽  
Vol 18 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Dewi Karita ◽  
Ahmad Hamim Sadewa ◽  
Pramudji Hastuti

Background: Endothelin-1 plays a role as a vasoconstrictor and also inhibits the expression of adiponectin in obesity. The Lys198Asn polymorphism of the endothelin-1 gene will increase the level of endothelin-1 plasma and increase the risk factor of obesity. Objective: In this study, we investigated the relationship between Lys198Asn polymorphism of endothelin-1 gene and endothelin-1 plasma level among individuals with obesity in Javanese population. Method: This study was conducted on 61 obese subjects and 65 control subjects. All subjects were measured for anthropometrics and endothelin-1 plasma level by ELISA (Enzyme-linked Immune Sorbent Assay). The polymorphism of Lys198Asn of ET-1 (Endothelin-1) was screened by using PCRRFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism). Results: TT genotype was a risk factor of obesity (OR 5.344 CI=95% 1.77-16.16) compared with GG genotype. Levels of endothelin-1 plasma were higher in obese subjects than that of control subjects (p=0.013), with TT genotype having the highest endothelin-1 plasma level (p<0.001). Conclusion: The Lys198Asn polymorphism of endothelin-1 gene plays a role in increasing endothelin-1 plasma levels and is risk factors of obesity. Bangladesh Journal of Medical Science Vol.18(1) 2019 p.46-49


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Sima Kazemi ◽  
Asad Vaisi-Raygani ◽  
Fariba Keramat ◽  
Massoud Saidijam ◽  
Ali Reza Soltanian ◽  
...  

Abstract Background The cytokine gene polymorphism is important for the genetic susceptibility of infectious diseases. The aim of the present study was to investigate the relationship between TNF-α, IL-12, and IL-13 gene polymorphisms and predisposition to brucellosis. Methods In this study, 107 patients with brucellosis and 107 healthy individuals were evaluated. The SNPs of TNF-α)- 238 G/A) and IL-12 (+ 1188 A/C) were done by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and IL-13 genotyping at positions − 1512 (A/C) and − 1112 (C/T) were analysis by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) methods. IL-12, IL-13 and TNF-α serum levels were measured by a sandwich enzyme-linked immunosorbent assay (ELISA). Results IL-13 (−1512A/C) was associated with Brucellosis risk in dominant model (OR (95% CI) = 2.17 (1.02–4.62)), P-value = 0.041. However, there was no difference in allele and genotype frequencies of TNF-α)- 238 G/A), IL-12 (+ 1188 A/C) and IL-13 [− 1512 (A/C) and − 1112 (C/T)] between patients and controls. Serum levels of IL-12 and TNF-α were significantly more frequent in the patients than in the control groups. Conclusions The IL-13 gene polymorphism can be used as a biomarker for detecting susceptibility to Brucella disease.


2018 ◽  
Vol 6 (2) ◽  
pp. 5-11
Author(s):  
Alexandra N. Filippova ◽  
Alexey G. Baindurashvili ◽  
Marina V. Sogoyan ◽  
Sergey E. Khalchitsky ◽  
Dmitry N. Kokushin ◽  
...  

Background. One of the most common orthopedic pathologies in children aged 10–18 years is idiopathic scoliosis, which is diagnosed in 2%–3% of cases in the general population. Aim. To compare the distributions of the allele frequencies and folate cycle gene genotypes among the MTHFR 677 C>T (rs 1801133), MTHFR 1298 A>C (rs 1801131), MTR 2756 A>G (rs 1805087), and MTRR 66 A>G (rs 1801394) polymorphisms in patients with idiopathic scoliosis and in children without spinal deformity. To also analyze the relationship between the studied molecular-genetic markers and development of scoliosis. Materials and methods. Clinical and genetic examinations were performed in 48 children with idiopathic scoliosis and 32 healthy children. Molecular-genetic testing was performed by polymerase chain reaction. Results and discussion. We found that the percentage of carriers of pathological alleles and genotypes was higher in the children with idiopathic scoliosis than in the general population. The number of pathological alleles and genotypes associated with the MTHFR (A1289C) and MTRR genes was significantly higher in patients with idiopathic scoliosis than in the control group. Сonclusion. We found that the percentage of carriers of pathological alleles and genotypes was higher in children with idiopathic scoliosis than in the population.


2021 ◽  
Vol 93 (1) ◽  
pp. 41-43
Author(s):  
Lyudmila D. Hidirova ◽  
Davyd A. Yakhontov ◽  
Vladimir N. Maksimov

Aim. To study the significance of the rs1378942 polymorphisms of the CSK gene and rs2200733 (chromosome 4q25) in the progression of AF in men with AH and AO. Materials and methods. In an observational cohort study, 116 men aged 4565 years were followed. Of these, 57 patients with AF, AH and AO and a control group including 59 patients with AF, AH and without AO. Testing of polymorphism rs1378942 of the CSK gene and rs2200733 of chromosome 4q25 using polymerase chain reaction with restriction fragment length polymorphism. All statistical calculations were performed using the Rstudio program (version 0.99.879 20092016 RStudio, Inc., USA). Results. The average age of all studied patients was 53.37.1 years. When dividing patients with AF and AH into groups based on the presence/absence of AO, it turned out that in the subgroups of carriers of different genotypes of the rs1378942 polymorphism of the CSK gene there are significant differences in BMI: in the group with BMI, there is an increase in the indicator in the series of CC, AC, AA genotypes. The highest BMI value in carriers of the CC genotype (p0.03) was in the group with AO. In the subgroups of carriers of different rs2200733 genotypes of chromosome 4q25, CC has the highest BMI (p0.05). It was proved that in the group with AO, the progression of AF occurred 2.57 times more often than in the group without AO (p0.003). Conclusion. In men with AF and AH, single nucleotide polymorphisms rs1378942 of the CSK gene and rs2200733 of chromosome 4q25 are associated with BMI. The heterozygous genotype AC rs1378942 in the CSK gene is significantly more common in patients, regardless of the presence of AO. In the group with AO, the progression of AF occurred 2.57 times more often than in the group without AO.


2020 ◽  
Vol 07 (02) ◽  
pp. 047-050
Author(s):  
Tamar Kvaratskhelia ◽  
Elene Abzianidze ◽  
Ketevan Asatiani ◽  
Merab Kvintradze ◽  
Sandro Surmava ◽  
...  

AbstractThe aim of this study was to investigate the frequency of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in Georgian females with hypothyroidism. Thirty-four patients and 29 healthy individuals were recruited in this study. Polymerase chain reaction-restriction fragment length polymorphism analyses were used for genotyping of MTHFR polymorphisms. The results of this study suggest that the MTHFR C677T variant was significantly associated with hypothyroidism. In addition, in individuals with T allele risk of hypothyroidism significantly increased. Combination of CT/AA genotypes was more prevalent in the hypothyroid patients than in the control group. Thus, C677T polymorphism could be a possible genetic factor contributing to the pathophysiology of hypothyroidism, possibly through hyperhomocysteinemia.


Author(s):  
NICOLINE NICOLINE ◽  
FATIMAH BOENJAMIN PARTAKUSUMA ◽  
HEDIJANTI JOENOES ◽  
CHRISTOPHER TALBOT ◽  
ELZA IBRAHIM AUERKARI

Objective: Tooth decay or the caries process is a common dental problem that affects millions of people worldwide. Many risk factors are modifiable,while others are not (e.g., genetic factors). Polymorphism of the enamelin (ENAM) gene, which is required to ensure production of an essentialprotein for enamel development, may pose as a risk factor for the caries process. This study sought to investigate the possibility of ENAM C2452Tpolymorphism acting as a risk factor in the caries process.Methods: The polymerase chain reaction–restriction fragment length polymorphism method was employed to evaluate DNA samples taken from 95subjects with a high caries prevalence and 89 control subjects for ENAM C2452T polymorphism.Results: Based on Chi-squared tests, there were significant genotype and allele distribution differences between the group with a high cariesprevalence and the control group (p=0.005 and p=0.007). Polymorphism in this context may, therefore, serve as a risk factor for caries onset andprogression (OR: 3.62).Conclusion: ENAM C2452T polymorphism is related to the caries process and may constitute a risk factor.


2016 ◽  
Vol 2 (1) ◽  
pp. 17
Author(s):  
Nur Farhanah ◽  
Muhammad Hussein Gasem ◽  
Sultana MH Faradz

AbstractBackground : TLR4 Asp299Gly and TNF-α -308G/A polymorphisms have been shown to be associated with increased susceptibility and severity of infection. TLR4 Asp299Gly polymorphism could affect the host’s ability to respond to leptospira sp. TNF-α -308G/A polymorphism, is associated with the high producer of TNF-α.Methods : Total of 36 leptospirosis patients (IgM anti leptospira and MAT positive) and healthy individual with the equal number were included. The polymorphisms were determined  by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using site spesific restriction enzyme.Results : Distribution of  homozygous wild-type TLR4 Asp299Gly polymorphism was higher in both of groups ( 94.5:97.2%.) and homozygous mutant allele was absent. There was not significantly difference of  TLR4 Asp299Gly in leptospirosis patients and healthy group ( ρ=1.00; OR 0.5; 95%CI, 0.04-5.6) and between mild and severe leptospirosis (ρ=0.54; OR 1.54 ; 95% CI, 1.20-1.98). The presence of homozygous wild-type TNF-α -308G/A polymorphism was higher between leptospirosis patients and healthy group (100:94.5%) andhomozygous mutant allele was not found in both of the groups. No significantly different of TNF-α -308G>A polymorphism between leptospirosis patient and healthy group (ρ=0.49).Conclusions : In this study, the polymorphisms of TLR4 Asp299Gly and TNF-α -308G/A were not associated with the susceptibility and severity of leptospirosis. Keywords : Leptospirosis, TLR4 Asp299Gly polymorphism, TNF-α -308G/A polymorphism


2013 ◽  
Vol 71 (7) ◽  
pp. 446-452 ◽  
Author(s):  
Gabriela S. Longo ◽  
Marcela S. Pinhel ◽  
Caroline L. Sado ◽  
Michele L. Gregório ◽  
Gisele S. Amorim ◽  
...  

ObjectiveThis study aimed to analyze the frequency of GSTP1-Alw26I polymorphism and to estimate its association with toxic substances in Parkinson's disease (PD).MethodsA study group with 154 patients - subdivided into familial and sporadic PD groups - and 158 elderly individuals without the disease (control group) were evaluated. GSTP1-Alw26I polymorphism was analyzed by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP).ResultsPatients were significantly more exposed to pesticides compared with the control group (p=0.0004), and the heterozygote genotype associated to exposure to pesticides also prevailed in patients (p=0.0001). Wild homozygote genotype was related to tobacco use (p=0.043) and alcoholism (p=0.033) in familial PD patients.ConclusionExposure to pesticides is associated to PD, whose effect can be enhanced when combined with the heterozygote genotype of GSTP1-Alw26I. Also, large genetic and environmental studies considering tobacco use, alcoholism, GSTP1 and PD are necessary to confirm our findings.


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