scholarly journals Association of RETN +299(G>A) polymorphism with type two diabetes mellitus

2021 ◽  
Author(s):  
Ghaith Altawallbeh ◽  
Omar F. Khabour ◽  
Mahmoud A. Alfaqih ◽  
Muayad M. Abboud ◽  
Mohammad Gharibeh ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Visceral Fat ◽  
Haplotype Analysis ◽  
Health Concern ◽  
Nucleotide Polymorphisms ◽  
Public Health Concern ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Type Two Diabetes

The global prevalence of type-two diabetes mellitus (T2DM) makes it a disease of public health concern. T2DM is strongly linked with insulin resistance caused by increased levels of visceral fat. Visceral fat secretes several adipocytokines that regulate body metabolism. Resistin is one of these adipocytokines which is encoded by the RETN gene. Herein, we tested the association of the RETN +299(G>A) and −420(C>G) single nucleotide polymorphisms (SNPs) with T2DM. T2DM patients (n=282) and healthy subjects (n=125) were included in the study. Subjects with metabolic syndromes other than diabetes were excluded. Genotyping of subjects was performed using PCR-RFLP. The +299(G>A) SNP was associated with T2DM (P=0.038). The AA genotype was higher in T2DM (17%) compared to controls (8%) with an odd ratio of 2.16 and 95% CI of 1.34 to 4.56. With respect to −420(C>G) SNP, no significant association was found with the risk of T2DM (P=0.128). The haplotype analysis of the examined SNPs indicated that the CA haplotype of the −420 and +299 SNPs in RETN was associated with T2DM risk (P=0.004; odd ration 4.0, 95% CI: 1.56–10.0). In conclusion, the present findings suggest a role of the RETN locus in modulating the risk of T2DM.

scholarly journals E2F1 genetic variants and risk of cervical cancer in Indian women

2018 ◽  
Vol 33 (4) ◽  
pp. 389-394 ◽  
Author(s):  
Sanjay Singh ◽  
Manish Gupta ◽  
Rajeev Kumar Seam ◽  
Harish Changotra
Keyword(s):  
Cervical Cancer ◽  
Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Indian Women ◽  
Altered Expression ◽  
Cervical Cancer Risk ◽  
Genotype Frequencies ◽  
Pcr Rflp

Introduction: Altered expression of many E2F family members have been reported in various human cancers. In this study, we investigated the role of non-synonymous single nucleotide polymorphisms (rs3213172 C/T, rs3213173 C/T, and rs3213176 G/A) of the gene E2F1 with cervical cancer. Methods: A total of 181 samples including 90 cervical cancer patients and 91 healthy controls were genotyped. The genotype frequencies of these polymorphisms in collected samples were determined by either PCR-RFLP or PCR-ARFLP methods. SHEsis software was used to analyze the haplotypes. Results: Statistically significant differences in the alleles and the genotypes frequencies were observed in rs3213172 (C/T) and rs3213173 (C/T) polymorphisms. The rs3213172 (C/T) polymorphism was a risk factor for cervical cancer in dominant model (odds ratio (OR) 1.96; 95% confidence interval (CI) 1.07, 3.60; P = 0.02) and heterozygous model (OR 1.90; 95% CI 1.01, 3.57; P = 0.04). The rs3213173 (C/T) polymorphism increased the risk of cervical cancer in the homozygous model (OR 2.71; 95% CI 1.11, 6.58; P = 0.02). The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. In the haplotypes analysis, three haplotypes (CTG, TCG, and TTA) were associated with the cervical cancer risk. Conclusions: These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. This is the first report showing an association of these polymorphisms with the cervical cancer risk.

SINGLE NUCLEOTIDE POLYMORPHISMS IN ORAL CANCER: A REVIEW

2021 ◽  
pp. 28-31
Author(s):  
Bindiya Narang ◽  
Revati Deshmukh ◽  
Sangeeta J Palaskar ◽  
Manjiri Joshi
Keyword(s):  
Oral Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Health Concern ◽  
Genetic Constitution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Major Health ◽  
Tobacco Usage ◽  
Risk Predisposition

Oral cancer is a major health concern as it can cause signicant morbidity and mortality. A dose response relation has been established between oral cancer and tobacco usage. Though tobacco and alcohol have been long associated with the disease, genetic factors also play an important role in its pathogenesis. Various genetic mutations and epigenetic regulations are associated with the etiology of Oral Cancer. The focus of the current review is to emphasize the role of most common genomic variants known as single nucleotide polymorphisms in oral cancer. Single Nucleotide Polymorphisms also known as SNPs are precise nucleotide sites in the human genome where in, it is possible to have two or more different nucleotides at a specic position on a chromosome. These are the most common type of variations occurring in the genetic constitution. SNP studies in various populations emphasize association of SNPs with risk predisposition or susceptibility to oral cancer.

scholarly journals Type 2 Diabetes Mellitus Associated with Obesity (Diabesity). The Central Role of Gut Microbiota and Its Translational Applications

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2749 ◽  
Author(s):  
Miguel A. Ortega ◽  
Oscar Fraile-Martínez ◽  
Irene Naya ◽  
Natalio García-Honduvilla ◽  
Melchor Álvarez-Mon ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Gut Microbiota ◽  
Metabolic Disorders ◽  
Health Concern ◽  
Public Health Concern ◽  
Wide Range

Obesity is a condition of rising prevalence worldwide, with important socioeconomic implications, being considered as a growing public health concern. Frequently, obesity brings other complications in addition to itself—like Type 2 Diabetes Mellitus (T2DM)—sharing origin, risk factors and pathophysiological mechanisms. In this context, some authors have decided to include both conditions as a unique entity known as “diabesity”. In fact, understanding diabesity as a single disease is possible to maximise the benefits from therapies received in these patients. Gut microbiota plays a key role in individual’s health, and their alterations, either in its composition or derived products are related to a wide range of metabolic disorders like T2DM and obesity. The present work aims to collect the different changes reported in gut microbiota in patients with T2DM associated with obesity and their possible role in the onset, development, and establishment of the disease. Moreover, current research lines to modulate gut microbiota and the potential clinical translation derived from the knowledge of this system will also be reviewed, which may provide support for a better clinical management of such a complex condition.

scholarly journals Association of Interleukin-8 with Cachexia from Patients with Low-Third Gastric Cancer

2009 ◽  
Vol 2009 ◽  
pp. 1-6 ◽  
Author(s):  
Bo Song ◽  
Dianliang Zhang ◽  
Shuchun Wang ◽  
Hongmei Zheng ◽  
Xinxiang Wang
Keyword(s):  
Gastric Cancer ◽  
Cancer Cachexia ◽  
Haplotype Analysis ◽  
Positive Association ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain

Background. Interleukin (IL)-8 has been implicated in the development of cancer cachexia. The polymorphism of IL-8 gene, which may affect the production level of IL-8, may be associated with cancer cachexia.Methods. The serum IL-8 level in our study was examined by radioimmunoassay. We also analyzed single nucleotide polymorphisms (SNPs) −251 A/T and +781 C/T of IL-8 gene, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results. The serum levels of IL-8 were significantly elevated in patients with low-third gastric cancer compared with controls, and were further up-regulated in patients with cachexia than those without (Z=−3.134,P=.002). A significantly increased frequency of +781 T allele was noted in patients with cachexia (OR=2.247, 95% CI: 1.351–3.737,P=.002). The +781 TT genotype was observed to be associated with a significantly increased risk of cachexia (OR=3.167, 95% CI: 1.265–7.929,P=.011), and with odds ratio of 3.033 (95% CI: 1.065–8.639,P=.038) for cachexia after adjusting for potential confounding factors. Meanwhile, haplotype analysis indicated a borderline positive association betweenT251T781haplotype and cachexia as compared with theT251C781haplotype (OR=4.92, 95% CI: 1.00–24.28;,P=.053).Conclusions. IL-8 appears to be associated with cachexia from patients with low-third gastric cancer.

scholarly journals An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Magdalena M. Michalska ◽  
Dariusz Samulak ◽  
Hanna Romanowicz ◽  
Maciej Sobkowski ◽  
Beata Smolarz
Keyword(s):  
Ovarian Cancer ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Histological Grading ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Lys751gln Polymorphism

Aim.The aim of this study was to evaluate the role of the Lys751Gln (rs13181)ERCC2gene polymorphism in clinical parameters and the risk for development of ovarian cancer.Material and Methods.The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.Results.The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;p<0.0001). Association of Lys751Gln polymorphism with histological grading showed increasedERCC2Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;p<0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;p<0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase inERCC2Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.Conclusion.On the basis of these results, we conclude thatERCC2gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

Polymorphism of the ADRB2 gene as a predictor of preterm birth

2021 ◽  
Vol 20 (2) ◽  
pp. 5-12
Author(s):  
G.F. Proklova ◽  
◽  
E.A. Sokova ◽  
R.E. Kazakov ◽  
R.A. Chilova ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Gene Polymorphism ◽  
Pregnant Women ◽  
Control Group ◽  
Missense Mutations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Adrb2 Gene

Tocolytic therapy with the use of β2-agonist hexoprenaline is used to prolong pregnancy. Polymorphisms of the ADRB2 gene can affect the efficacy and safety of this drug, including missense mutations associated with the Gly16Arg and Gln27Glu substitutions. Objective. To study the role of the ADRB2 gene polymorphism in preterm birth, as well as the efficiency and safety of tocolytic therapy with hexoprenaline. Patients and methods. 120 pregnant women were examined. The main group included 60 pregnant women who were at risk of preterm birth and to whom intravenous tocolytic therapy with hexoprenaline was performed. In the control group (n = 60), there was a woman whose pregnancy was not accompanied by the threat of preterm birth, and delivery itself was emergency and spontaneous. The identification of the Gly16Arg and Gln27Glu polymorphisms of the ADRB2 gene was carried out by the PCR-RFLP method. Results. In pregnant women with the threat of premature labor, the 16Arg allele (p = 0.028) was less common, and the 16Gly/Gly genotype (p = 0.027) of the ADRB2 gene was reliably more common. Adverse reactions to hexoprenaline occured in 53% of pregnant women: in 47%, it was tachycardia, in 6% – headache. Their incidence was not associated with the ADRB2 gene polymorphism. Conclusion. The effectiveness of hexoprenaline is lower in the carriers of genotypes indicating high or low expression of β2-adrenoreceptors. Key words: hexoprenaline, genotyping, single-nucleotide polymorphisms, preterm birth, tocolytic therapy, ADRB2

scholarly journals Gasdermin A Single Nucleotide Polymorphisms and Alopecia Susceptibility in Punjabi Population from North-West India

2021 ◽  
pp. 586-596
Author(s):  
Suman Rani ◽  
Praveen P. Balgir
Keyword(s):  
Haplotype Analysis ◽  
Skin Diseases ◽  
Sequence Similarity ◽  
Large Population ◽  
Population Sample ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
North West ◽  
Allele Count

Human Gasdermin A (GSDMA), a member of gasdermin gene family, is mainly expressed in skin and stomach. Mutations in its mouse counterpart Gsdma3, were found to cause skin diseases characterized by hair loss/ alopecia. As human and mice genes share 75% sequence similarity, present study was designed to check whether natural variability in human GSDMA gene was associated with alopecia. Blood samples of 100 alopecia patients and 100 age matched controls were collected and genomic DNA Isolated. All the samples were genotyped for two GSDMA SNPs, rs7212938 (V128L) and rs200722398 (V253I) for distribution of alleles along with haplotype analysis. Out of the T and G allele of rs7212938, the G allele count was found to be significantly increased (0.29 to 0.39) among alopecia patients and out of G/A alleles at rs200722398, allele A count was found to be significantly increased (0.06 to 0.13) among alopecia patients. Further haplotype analysis revealed that haplotype combination TGTAGG of rs7212938 and rs200722398 enhanced the susceptibility to alopecia significantly among Punjabi men. Studies on large population sample, other interacting genes and mechanism underlying the observed enhanced susceptibility are required to delineate the role of the observed association between GSDMA alleles and relative risk of alopecia.

Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

2020 ◽  
Vol 60 (12) ◽  
pp. 898-903
Author(s):  
Lyudmila P. Kuzmina ◽  
Anastasiya G. Khotuleva ◽  
Evgeniy V. Kovalevsky ◽  
Nikolay N. Anokhin ◽  
Iraklij M. Tskhomariya
Keyword(s):  
Antioxidant Enzymes ◽  
Genetic Polymorphism ◽  
Genetic Predisposition ◽  
Risk Groups ◽  
Dust Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gstp1 Gene ◽  
Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

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