scholarly journals Single Nucleotide Polymorphism in the Promoter of the Human Interleukin-13 Gene Is Associated with Asthma in Malaysian Adults

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Ammu Kutty Radhakrishnan ◽  
Vijaya Lechimi Raj ◽  
Lee-Keng Tan ◽  
Chong-Kin Liam
Keyword(s):  
Buffy Coat ◽  
Allele Frequencies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Interleukin 13 ◽  
Pcr Rflp ◽  
Chromosome 5Q31 ◽  
And Control ◽  
The Relationship ◽  
Genotype And Allele Frequencies

Asthma susceptibility genes are mapped to a region on human chromosome 5q31-q33, which contains a cluster of proinflammatory cytokine genes such as interleukin-13 (IL-13), which is associated with asthma. This study investigated the allele frequencies of two single nucleotide polymorphisms (SNPs) (−1111C>T and 4257C>A) in theIL-13gene between asthmatics and healthy volunteers as well as the relationship between these SNPs and IL-13 production. DNA extracted from buffy coat of asthmatic and control subjects was genotyped using the PCR-RFLP method. Amount of IL-13 produced by mitogen-stimulated peripheral blood leucocytes PBLs (PBLs) was determined by ELISA. The frequencies of the −1111C and 4257G wild-type alleles were 0.52 and 0.55 in asthmatics and were 0.67 and 0.56 in controls. A significant (P<0.05) association was found between genotype and allele frequencies of SNP at position −1111C>T between asthmatic and control groups (OR, 1.810; 95% CI = 1.184 to 2.767;P<0.05). The mitogen-stimulated PBLs from asthmatics produced higher amounts of IL-13 production (P<0.001). The 4257GA heterozygous and 4257AA homozygous mutant alleles were associated with higher IL-13 production in asthmatics (P<0.05). Our results show that the −1111T mutant allele are associated with asthma and the 4257A mutant alleles are associated with elevated IL-13 production.

In search for polymorphic DNA markers to increase resistance and production level of hens

2020 ◽  
Vol 1 (12) ◽  
pp. 98-104
Author(s):  
I. I. Kochish ◽  
◽  
О. V. Myasnikova ◽  
V. V. Martynov ◽  
V. I. Smolensky ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Dopamine Receptor ◽  
Dna Markers ◽  
Production Level ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Productive Traits ◽  
Pure Lines ◽  
The Relationship

In the article, the authors assess the prospect of using genetic polymorphisms to predict resistance to diseases and a possible enlarge in chicken production level. Using the PCR-RFLP method, we analyzed the SNP frequencies in the genes of myostatin (MSTN, or GDF-8), proopiomelanocortin (POMC), and dopamine receptor D2 (DRD2) in chickens of the pure lines of the Smena-8 broiler hybreed – B6, B7m / o (slow-feathering), B7b / o (fast-fledging) FSBI "Breeding and Genetic Center “Smena”. The relationship between the studied single nucleotide polymorphisms and the productive traits of chickens was determined. The assessment of the possibilities of using polymorphisms to increase the resistance and productivity of linear birds.

scholarly journals Association of rs780094 polymorphism of glucokinase regulatory protein with non-alcoholic fatty liver disease

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Saba Mohammadi ◽  
Safar Farajnia ◽  
Masoud Shadmand ◽  
Fatemeh Mohseni ◽  
Roghayyeh Baghban
Keyword(s):  
Regulatory Protein ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Study Population ◽  
Northwest Of Iran ◽  
And Control ◽  
The Relationship ◽  
Tabriz City

Abstract Objective GCK rs780094 polymorphism is a single nucleotide polymorphism that has been associated with obesity, type II diabetes and dyslipidemia in some populations, conditions that highly related to NAFL etiology. The present study aimed to evaluate the relationship between NAFLD and rs780094 polymorphism in patients with NAFLD in Tabriz city, northwest of Iran. The rs780094 polymorphism was determined in 74 patients with NAFLD by PCR–RFLP technique. Demographic information was collected using a questionnaire and biochemical analysis was performed using standard laboratory methods. Results There was a significant difference between case and control subjects for alanine aminotransferase, aspartate aminotransferase, HDL-C and triglycerides (P < 0.05). Analysis by PCR–RFLP method revealed that there were no significant differences between NAFLD and healthy subjects for rs780094 polymorphism in the study population. The results of this study indicated that rs780094 polymorphism is not associated with NAFLD in subjects from Tabriz city.

scholarly journals Association of rs780094 polymorphism of glucokinase regulatory protein with non-alcoholic fatty liver disease

2019 ◽  
Author(s):  
Saba Mohammadi ◽  
Safar Farajnia ◽  
Fatemeh Mohseni ◽  
Roghayyeh Baghban ◽  
Masoud Shadmand
Keyword(s):  
Regulatory Protein ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Study Population ◽  
Northwest Of Iran ◽  
And Control ◽  
The Relationship ◽  
Tabriz City

Abstract Objective GCK rs780094 polymorphism is a single nucleotide polymorphism that has been associated with obesity, type II diabetes and dyslipidemia in some populations, conditions that highly related to NAFL etiology. The present study aimed to evaluate the relationship between NAFLD and rs780094 polymorphism in patients with NAFLD in Tabriz city, northwest of Iran. The rs780094 polymorphism was determined in 74 patients with NAFLD by PCR-RFLP technique. Demographic information was collected using a questionnaire and biochemical analysis was performed using standard laboratory methods.Results There were a significant difference between case and control subjects for alanine aminotransferase, aspartate aminotransferase, HDL-C and triglycerides ( P <0.05). Analysis by PCR-RFLP method revealed that there were no significant differences between NAFLD and healthy subjects for rs780094 polymorphism in the study population. The results of this study indicated that rs780094 polymorphism is not associated with NAFLD in subjects from Tabriz city.

scholarly journals Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Bo Hou ◽  
Xuewen Jia ◽  
Ziwen Deng ◽  
Xin Liu ◽  
Huitang Liu ◽  
...  
Keyword(s):  
Large Scale ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Allelic Frequencies ◽  
Genome Wide ◽  
And Control ◽  
The Relationship

Abstract Background Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility genetic variants in the Chinese population. This study aimed to look into the relationship between preeclampsia (PE) and these SNPs in Chinese Han women. Methods Overall, 5021 unrelated pregnant women were recruited, including 2002 patients with PE and 3019 normal healthy controls. The real-time PCR (TaqMan) method was applied to genotype these four polymorphisms. Results A statistically obvious difference in the allelic frequencies was observed in CYP21A2 rs2021783 between cases and controls (χ2 = 7.201, Pc = 0.028 by allele), and the T allele was associated with the occurrence and development of PE (OR = 1.151, 95% CI 1.039–1.275). We also found a significant association between rs2021783 and the development of early-onset PE (Pc = 0.008 by genotype, Pc = 0.004 by allele). For rs1004467 and rs3824755, the distribution of allelic frequencies differed markedly between mild PE and control groups (χ2 = 6.843, Pc = 0.036; χ2 = 6.869, Pc = 0.036), and patients with the TT genotype of rs1004467 were less easy to develop mild PE than were those carrying the CT or CC genotype (χ2 = 7.002, Pc = 0.032, OR = 1.306, 95% CI 1.071–1.593). The GG genotype of rs3824755 appeared to a protective effect on the occurrence of mild PE (OR = 0.766, 95% CI 0.629–0.934). Conclusions CYP21A2 rs2021783 appears to be closely related to PE susceptibility, and CYP17A1 rs1004467 and rs3824755 seem to be closely associated with mild PE in Han women.

scholarly journals Association of Toll-Like Receptor Polymorphisms With Nasal Polyposis

2019 ◽  
Vol 100 (1) ◽  
pp. NP26-NP32
Author(s):  
Gülin Gökçen Kesici ◽  
Selda Kargın Kaytez ◽  
Talih Özdaş ◽  
Sibel Özdaş
Keyword(s):  
Logistic Model ◽  
Nasal Polyposis ◽  
Innate Immune ◽  
Nucleotide Polymorphisms ◽  
Toll Like Receptor ◽  
Single Nucleotide ◽  
Functional Studies ◽  
Significant Difference ◽  
And Control ◽  
Genotype And Allele Frequencies

Nasal polyposis is a disease characterized with chronic inflammation of the nasal mucosa. Toll-like receptors (TLRs) are defined as essential receptors of the innate immune system and may play in the development of nasal polyposis. A total of 71 patients with nasal polyposis and 74 healthy controls were included in this study. Three single-nucleotide polymorphisms (SNPs); TLR2 (2258 A>G), TLR4 (896 A>G), and TLR4 (1196 C>T) were analyzed in all patients. The degree of pair-wise linkage disequilibrium and the genotype and haplotype analyses were conducted using regression in this logistic model and the Multifactor Dimensionality Reduction (MDR) software package was used to construct all possible interactions among different genotype variants belonging to the TLR gene. There was significant difference in genotype and allele frequencies of the TLR4 (1196 C>T) polymorphism between the nasal polyposis and control groups (0.017). Also, it was observed that the probability of nasal polyposis was 62.7% in the presence of TLR4 (1196 C>T) polymorphism with asthma ( P = .007). As a conclusion, this study showed that TLR4 and TLR2 polymorphisms were predisposing factors for nasal polyposis. Further functional studies investigating the consequences of loss of TLR function are needed.

scholarly journals The The relationship between NLRP3 rs10159239 and Vaspin rs2236242 gene variants and obstructive sleep apnea

2021 ◽  
Vol 126 (1) ◽  
Author(s):  
Buğra Kerget ◽  
Ferhan Kerget ◽  
Çiğdem Yüce Kahraman ◽  
Alperen Aksakal ◽  
Ömer Araz
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Upper Airway ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Obstructive Sleep ◽  
And Control ◽  
The Relationship ◽  
Increased Susceptibility

Background: In obstructive sleep apnea (OSA), recurrent upper airway obstruction and apnea/hypopnea episodes result in endothelial dysfunction, which leads to the release of many proinflammatory cytokines and reactive oxygen species (ROS). ROS induces NLRP3, a protein involved in the synthesis of interleukin (IL)-1 and IL-18; vaspin is a serine protease inhibitor that has an important role in suppressing the activation of NLRP3 inflammasome. In this study, we aimed to investigate the effect of NLRP3 rs10159239 (rs9239) and vaspin rs2236242 (rs6242) single nucleotide polymorphisms (SNPs) on OSA development. Methods: This study included 220 individuals who underwent polysomnography (118 patients with OSA and 102 healthy controls). NLRP3 rs9239 and vaspin rs6242 mutation frequencies were analyzed. Results: The NLRP3 rs9239 SNP genotype analysis revealed no statistically significant differences between the OSA and control groups. In the vaspin gene analysis, the rs6242 AA genotype was significantly more frequent in the OSA group compared with the control group, while the AT genotype was more frequent in controls (P = 0.004, P = 0.02). Comparison of rs6242 allele levels showed that the A allele was significantly more frequent in OSA patients than in controls (P = 0.03). The AA genotype was significantly more frequent in patients with severe OSA than in patients with mild or moderate OSA and the control group (P = 0.001 for all). Serum vaspin levels were significantly lower in carriers of the AA genotype than those with AT and TT genotypes (P = 0.001). Conclusion: The vaspin rs6242 SNP AA genotype increased susceptibility to OSA, while the AT genotype appeared to be protective. The lower plasma vaspin levels in OSA compared with the control group and in patients with the AA genotype suggest that vaspin may be a protective biomarker for OSA.

Polymorphic variants of MnSOD Val16Ala, CAT-262 C < T and GPx1 Pro198Leu genotypes and the risk of laryngeal cancer in a smoking population

2013 ◽  
Vol 127 (10) ◽  
pp. 997-1000 ◽  
Author(s):  
G Aynali ◽  
M Doğan ◽  
R Sütcü ◽  
Ö Yüksel ◽  
M Yariktaş ◽  
...  
Keyword(s):  
Laryngeal Cancer ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Smoking Intensity ◽  
Cancer Group ◽  
Smoking Duration ◽  
Polymerase Chain ◽  
And Control ◽  
The Relationship

AbstractObjective:To investigate the relationship between development of laryngeal cancer and the presence of polymorphisms of the MnSOD Val16Ala, CAT-262 C < T and GPx1 Pro198Leu genes in a smoking population.Patients and methods:Single nucleotide polymorphisms were determined in DNA from the peripheral blood erythrocytes of 48 heavy smokers (25 patients with laryngeal cancer and 23 cancer-free controls), using polymerase chain reaction.Results:There were no significant differences in age, smoking duration or smoking intensity, comparing the two groups. The homozygous AA genotype of MnSOD Val16Ala was significantly more prevalent in the cancer group than the control group (92vs13 per cent, respectively), while the heterozygous AV genotype of MnSOD Val16Ala was more prevalent in the control group than the cancer group (87vs8 per cent, respectively) (p < 0.001). There were no significant differences between the cancer and control groups regarding GPx1 Pro198Leu or CAT-262 C < T polymorphisms.Conclusion:Polymorphism of the MnSOD Val16Ala gene may contribute to susceptibility to laryngeal cancer among smokers.

scholarly journals Association between IFN-γ+874A/T and IFN-γR1 (-611A/G, +189T/G, and +95C/T) Gene Polymorphisms and Chronic Periodontitis in a Sample of Iranian Population

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Zahra Heidari ◽  
Hamidreza Mahmoudzadeh-Sagheb ◽  
Mohammad Hashemi ◽  
Somayeh Ansarimoghaddam ◽  
Bita Moudi ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Genetic Polymorphisms ◽  
Chronic Periodontitis ◽  
Gene Polymorphisms ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Pcr Rflp ◽  
And Control

Background. Interferon gamma (IFN-γ) is an immune regulatory cytokine that acts through its receptor and plays important role in progression of inflammatory disease such as chronic periodontitis (CP). The purpose of this study was to determine the differences in the distribution of IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) gene polymorphisms among CP and healthy individuals and to investigate relationships between these polymorphisms and susceptibility to CP.Materials and Methods. 310 individuals were enrolled in the study including 210 CP patients and 100 healthy controls. Single nucleotide polymorphisms at IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) were analyzed by ARMS-PCR and PCR-RFLP methods.Results. The significant difference was found in genotype and allele frequency of IFN-γ(+874A/T) gene polymorphism in chronic periodontitis patients and healthy controls. The distribution of genotypes and allele frequencies for IFN-γR1 (-611A/G, +189T/G, and +95C/T) were similar among the groups and no differences in the frequencies of alleles or genotypes of IFN-γR1 genetic polymorphisms variants between case and control groups were detected.Conclusion.The finding of this study showed that IFN-γ+874A/T gene polymorphism may affect susceptibility to CP, whereas IFN-γR1 genetic polymorphisms at -611A/G, +189T/G, and +95C/T were not associated with this disease.

scholarly journals Association of rs780094 polymorphism of glucokinase regulatory protein with non-alcoholic fatty liver disease

2019 ◽  
Author(s):  
Saba Mohammadi ◽  
Safar Farajnia ◽  
Masoud Shadmand ◽  
Fatemeh Mohseni ◽  
Roghayyeh Baghban
Keyword(s):  
Regulatory Protein ◽  
Single Nucleotide ◽  
Alcoholic Fatty Liver ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Study Population ◽  
Northwest Of Iran ◽  
And Control ◽  
The Relationship ◽  
Tabriz City

Abstract Objective GCK rs780094 polymorphism is a single nucleotide polymorphism that has been associated with obesity, type II diabetes and dyslipidemia in some populations, conditions that highly related to NAFL etiology. The present study aimed to evaluate the relationship between NAFLD and rs780094 polymorphism in patients with NAFLD in Tabriz city, northwest of Iran. The rs780094 polymorphism was determined in 74 patients with NAFLD by PCR-RFLP technique. Demographic information was collected using a questionnaire and biochemical analysis was performed using standard laboratory methods.Results There was a significant difference between case and control subjects for alanine aminotransferase, aspartate aminotransferase, HDL-C and triglycerides ( P <0.05). Analysis by PCR-RFLP method revealed that there were no significant differences between NAFLD and healthy subjects for rs780094 polymorphism in the study population. The results of this study indicated that rs780094 polymorphism is not associated with NAFLD in subjects from Tabriz city.

Three novel genetic variants in the FAM110D, CACNA1A and NLRP12 genes are associated with susceptibility to hypertension among Dai people

2021 ◽  
Author(s):  
Lin Zhang ◽  
Yun Sun ◽  
Xiaochao Zhang ◽  
Xiyun Shan ◽  
Jianmei Li ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Multiple Logistic Regression Analysis ◽  
Candidate Snps ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
Future Studies ◽  
And Control ◽  
The Relationship ◽  
Generation Sequencing

Abstract Background Although the genetic factors associated with hypertension remain unknown, genetic variations in genes related to ion channels, inflammation, and the cell cycle may affect susceptibility to hypertension. In the present study, the association between hypertension and 10 candidate single-nucleotide polymorphisms (SNPs) was evaluated among Chinese Dai people, who have a smaller gene pool than Han individuals. Methods A total of 1193 samples from Dai people were collected, including 488 with hypertension and 705 with normal blood pressure. Based on the preliminary results of whole-genome sequencing among pools of individuals (Pool-seq), ten candidate SNPs in six genes (FAM110D, ADD1, RAG1, CACNA1C, CACNA1A, and NLRP12) were genotyped in the case and control groups by multiplex PCR for SNP genotyping with next-generation sequencing (MultiPCR-NGS). The relationship between hypertension and each candidate SNP was evaluated using the χ2 test and multiple logistic regression analysis. Results The χ2 test showed that the allele frequencies of rs3748856 in FAM110D, rs139118504 in CACNA1A, and rs34436714 in NLRP12 were significantly different between the case and control groups (P &lt; 0.005). After adjusting for age, BMI, TC, TG, and LDL, logistic regression analyses revealed that the association between the three SNPs and hypertension among Dai people remained significant (P = 0.012, 2.71 × 10 -4, and 0.017, respectively). Conclusion These findings indicate that there may be different molecular pathogeneses of hypertension among Dai people, which should be noted in future studies.

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