Hsa-miR-196a2 Rs 11614913 C>T polymorphism and CRC susceptibility: A case-control study.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16066-e16066
Author(s):  
Li-zhu Chen ◽  
Yu Chen ◽  
Wei-feng Tang ◽  
Lin Chen ◽  
Jin Lin ◽  
...  
Keyword(s):  
Alcohol Use ◽  
Smoking Status ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Incidence And Mortality ◽  
Genes Encoding ◽  
Pcr Method ◽  
Relationship Of ◽  
The Relationship

e16066 Background: The incidence and mortality rate of Colorectal cancer (CRC) is high worldwide. Many genetic studies have suggested that single nucleotide polymorphisms (SNPS) in genes encoding small molecule RNAs were associated with CRC risk, but the results were different in different studies. In our study, we investigated the general demographic characteristics and the relationship of hsa-mir-196a2 rs11614913 C > T polymorphism and CRC susceptibility in Chinese CRC. Methods: Our study included 1,003 CRC patients and 1,303 controls. Restriction fragment length polymorphism (RFLP-PCR) method was used for genotyping and SAS version 9.4 software for statistical analysis. Results: The incidence of smoking status,alcohol use and BMI in the CRC group (25.82%,17.35%,66.80%) were much higher than that in the control subjects (20.34%,10.44%,52.80%) respectively(P < 0.05). After adjusting age and other factors, hsa-mir-196a2 rs11614913 C > T genotypes were not statistically correlated with CRC risk and tumor location.But the TT genotype in the hsa-mir-196a2 rs11614913 C > T polymorphism reduced the risk of CRC in women (OR = 0.64, 95 CI: 0.42-0.97, P = 0.036). Conclusions: Smoking status,alcohol use and BMI may be main risk factors for CRC development in our study population.The polymorphism of hsa-mir-196a2 rs11614913 C > T gene may affect the risk of CRC in women, which requires further investigation in a larger cohort in the future.

scholarly journals IL-1R2 Polymorphisms and its Interaction Associates With Osteoporosis Susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  
Keyword(s):  
Negative Regulator ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Testing Accuracy ◽  
Relationship Of ◽  
The Relationship ◽  
Osteoporosis Risk

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.

scholarly journals Variation of genes encoding KAT1, AADAT and IDO1 as a potential risk of depression development

2018 ◽  
Vol 52 ◽  
pp. 95-103 ◽  
Author(s):  
Paulina Wigner ◽  
Piotr Czarny ◽  
Ewelina Synowiec ◽  
Michał Bijak ◽  
Monika Talarowska ◽  
...  
Keyword(s):  
Selective Serotonin Reuptake Inhibitors ◽  
Nucleotide Polymorphisms ◽  
Male Population ◽  
Gene Encoding ◽  
Single Nucleotide ◽  
Genes Encoding ◽  
Numerous Data ◽  
Tryptophan Catabolites ◽  
Hydroxyanthranilic Acid ◽  
The Relationship

AbstractBackground:Numerous data suggests that the disorders of tryptophan catabolites (TRYCATs) pathway, including a decreased level of tryptophan or evaluated concentration of harmful TRYCATs −kynurenine, quinolinic acid, 3-hydroxyanthranilic acid, 3-hydroxytryptophan − may cause the occurrence of DD symptoms. In this work, we assessed the relationship between single-nucleotide polymorphisms (SNPs) of KAT1, KAT2 and IDO1 gene encoding, and the risk of depression development. Our study was performed on the DNA isolated from peripheral blood of 281 depressed patients and 236 controls. We genotyped, by using TaqMan probes, four polymorphisms: c.*456G > A of KAT1 (rs10988134), c.975-7T > C of AADAT (rs1480544), c.-1849C > A (rs3824259) and c.-1493G > C(rs10089084)of IDO1. We found that only the A/A genotype of c.*456G > A − KAT1 (rs10988134) increased the risk of depression occurrence. Interestingly, when we stratified the study group according to gender, this relationship was present only in male population. However, a gene–gene analysis revealed a link between the T/T-C/C genotype of c.975-7T > C − AADAT (rs1480544)or c.-1493G > C − IDO1 (rs10089084) and C/C-C/A genotype of c.975-7T > C − AADAT (rs1480544)and c. −1849C > A − IDO1 (rs3824259) and the disease. Moreover, we found, that the c.975-7T > C − AADAT and c. *456G > A KAT1 (rs10988134) polymorphisms may modulate the effectiveness of selective serotonin reuptake inhibitors therapy. Concluding, our results confirm the hypothesis formulated in our recently published article that the SNPs of genes involved in TRYCATs pathway may modulate the risk of depression. This provides some further evidence that the pathway plays the crucial role in development of the disease.

scholarly journals <i>SIRT1</i> gene polymorphisms associated with carcass traits in Luxi cattle

2017 ◽  
Vol 60 (1) ◽  
pp. 27-32 ◽  
Author(s):  
Guifen Liu ◽  
Hongbo Zhao ◽  
Xiuwen Tan ◽  
Haijian Cheng ◽  
Wei You ◽  
...  
Keyword(s):  
Promoter Region ◽  
Muscle Development ◽  
Direct Sequencing ◽  
Carcass Traits ◽  
Sirtuin 1 ◽  
Nucleotide Polymorphisms ◽  
Class Iii ◽  
Single Nucleotide ◽  
Relationship Of ◽  
The Relationship

Abstract. SIRT1 is the gene that codes for Sirtuin 1, an NAD (nicotinamide adenine dinucleotide)-dependent class III histone deacetylase. This gene plays a key role in adipose tissue and muscle development in animals. Chinese Luxi cattle (n  =  169) were selected to identify SIRT1 SNPs (single nucleotide polymorphisms) and investigate the relationship of these SNPs with carcass traits. Five SNPs (g.-382G  >  A, g.-274C  >  G, g.17324T  >  C, g.17379A  >  G, and g.17491G  >  A) were identified by direct sequencing. SNPs g.-382G  >  A and g.-274C  >  G were located within the promoter region of this gene. SNP g.-382G  >  A was significantly associated with dressing percentage, meat percentage, and striploin and ribeye weights, and the g.-274C  >  G polymorphism had a strong effect on carcass, tenderloin, and high rib weights in Luxi cattle. These findings will provide possible clues for the biological roles of SIRT1 underlying beef cattle carcass traits.

The Relationship of Single Nucleotide Polymorphisms in the TRPV1 Gene with Lipid Profile, Glucose, and Blood Pressure in Mexican Population

2020 ◽  
Vol 24 (7) ◽  
pp. 420-424
Author(s):  
Anahí González-Mercado ◽  
María Teresa Magaña-Torres ◽  
Josefina Yoaly Sánchez-López ◽  
Mónica Ríos-Silva ◽  
Bertha Ibarra-Cortés ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Single Nucleotide Polymorphisms ◽  
Lipid Profile ◽  
Mexican Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Relationship Of ◽  
The Relationship

The Relationship of TLR2 Polymorphisms with Infectious Diseases

2021 ◽  
pp. 57-73
Author(s):  
Marcos Jessé Abrahão Silva ◽  
Marceli Batista Martins Lima ◽  
Karla Valéria Batista Lima ◽  
Luana Nepomuceno Gondim Costa Lima
Keyword(s):  
Immune Response ◽  
Infectious Diseases ◽  
Cochrane Collaboration ◽  
Nucleotide Polymorphisms ◽  
Proinflammatory Response ◽  
Single Nucleotide ◽  
The Usa ◽  
The Individual ◽  
Relationship Of ◽  
The Relationship

The proinflammatory response induced by Toll-Like receptors (TLR) is considered the host's first defense line. Single nucleotide polymorphisms (SNPs) correspond to the most frequent type of variation in the human genome, and due to the importance of TLR2 in the immune response, SNPs in the TLR gene are related to susceptibility or resistance to various diseases. Thus, the objective of the present study was to identify the polymorphisms existing in the TLR2 gene that may cause susceptibility or protection against infectious diseases. We conducted a systematic review of the literature in the databases Science Direct, National Library of Medicine National Institutes of Health of the USA (PUBMED), Cochrane Collaboration and Medical Literature Analysis and Retrieval System Online (MEDLINE) between 2000 to 2020. The search resulted in 32 articles, all of which in English. Thus, it was demonstrated that the related polymorphisms are extremely important for the identification of related pathologies, whether for the susceptibility or protection of the individual to the diseases, also being essential for the mechanisms of signal generation and immune responses, and finally indicating that a balance between activation and inactivating these receptors to prevent an excessive inflammatory or immune response.

SARS-CoV-2: Evaluation and Evolution

Coronaviruses ◽  
2021 ◽  
Vol 02 ◽  
Author(s):  
Loay Bedda ◽  
Fayrouz Mahmoud ◽  
Radwa Elkhateib ◽  
Alyaa Dawoud ◽  
Hassan Gamal ◽  
...  
Keyword(s):  
Life Cycle ◽  
Genetic Recombination ◽  
Virus Evolution ◽  
High Morbidity ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
S Protein ◽  
Viral Genomes ◽  
Relationship Of ◽  
The Relationship

: The emerging new COVID 2019 pandemic, which started in 2019 in China (Wuhan) and is caused by SARS-CoV-2, raises critical concerns due to high morbidity and mortality. Given a large number of infected individuals and the fact that the number continues to rise, it's possible that the virus has multiple variants, some of which are more pathogenic than others.Besides, the virus is suspected of various evolutionary pathways since SARS-CoV-2 belongs to the RNA viruses’ family, which is characterized by a high mutation rate. Additionally, it is crucial to understand the life cycle of the virus to be able to urge antiviral studies. Genotyping studies about viruses are also important in order to understand the transmission and evolution of the virus. The genome of SARS-CoV-2 has a furin-like cleavage site in its S protein that may affect its pathogenicity. It was found that insertions and deletions in S protein have an impact on the transmission and fusion of the virus. The single nucleotide polymorphisms (SNP) genotypes are used to track the relationship of virus isolates. Sequence alignment revealed the presence of hundreds of inter-host mutations during person-to-person transmission. Furthermore, genetic recombination provided a second mechanism for virus evolution. In this review, we highlight the life cycle of the virus and methods of virus evolution caused by mutations or recombination of viral genomes.

The Influence of Single Nucleotide Polymorphisms of NOD2 or CD14 on Susceptibility to Tuberculosis: A Systematic Review

2020 ◽  
Author(s):  
Juan M Cubillos-Angulo ◽  
Catarina D Fernandes ◽  
Davi N Araújo ◽  
Cristinna A Carmo ◽  
María B Arriaga ◽  
...  
Keyword(s):  
Systematic Review ◽  
Single Nucleotide Polymorphisms ◽  
Causes Of Death ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Quality Scale ◽  
Reported Data ◽  
The Relationship

Abstract Background: Tuberculosis (TB) is still one of the leading causes of death worldwide. Genetic studies have pointed to the relevance of the NOD2 and CD14 polymorphic alleles in association with susceptibility or resistance to TB. Methods: A systematic review was performed on search platforms to examine the association between single nucleotide polymorphisms (SNP) and TB risk. Study quality was evaluated using the Newcastle-Ottawa Quality Scale (NOQS) Results: Thirteen studies matched the selection criteria. Of those, 9 investigated CD14 SNPs, and 6 reported a significant association between the T allele and TT genotypes of the rs2569190 SNP and increased TB risk. In contrast, the genotype CC was found to be protective against the disease. Furthermore, in two studies, rs2569191 SNP of the CD14, G allele was described to be significantly associated with increased TB risk. Four studies reported data uncovering the relationship between NOD2 SNPs and TB risk, with two of them reporting significant associations of rs1861759 and rs7194886 and higher TB risk in a Chinese Han population. Paradoxically, minor allele carriers (CG or GG) of rs2066842 and rs2066844 NOD2 SNPs were associated with lower TB risk in African Americans. Conclusions: The CD14 rs2569190 and rs2569191 polymorphisms influence TB risk depending on the allele. Furthermore, there is significant association between NOD2 SNPs rs1861759 and rs7194886 and augmented risk of TB, especially in persons with Chinese ethnicity. The referred polymorphisms of CD14 and NOD2 genes likely play an important role in TB susceptibility and physiopathology; such effect may be affected by ethnicity.Systematic review registration: CRD42020186523

scholarly journals IL18 Gene Polymorphism Influences Age of Onset of DM1 in African Ancestry Brazilians

2019 ◽  
Vol 08 (01) ◽  
pp. 038-040
Author(s):  
Alejandro Boëchat-Fernandes ◽  
Rosângela Réa ◽  
Nicole Romanzini ◽  
Marilia Gomes ◽  
Lupe Furtado-Alle ◽  
...  
Keyword(s):  
Age Of Onset ◽  
African Ancestry ◽  
Taqman Assay ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Relationship Of ◽  
The Relationship ◽  
Il18 Gene Polymorphism ◽  
Il18 Gene

AbstractThe aim of this study was to investigate the relationship of two single nucleotide polymorphisms (SNPs) in the interleukin-18 (IL18) gene (rs187238, g.-137G > C; rs1946518, g.-607C > A) and one SNP of the IL12B gene (rs3212227 g.*159A > C, 3′UTR) with the age of onset for type 1 diabetes mellitus (DM1). A total of 1,101 patients with DM1 enrolled in 13 centers from different regions of Brazil were genotyped with TaqMan assay and classified according to the ancestry. Our results show that an SNP in IL18 gene could be associated with DM1 age onset, taking into account that this studied variation affects gene expression.

scholarly journals The relationship between MUC5B promoter, TERT polymorphisms and telomere lengths with radiographic extent and survival in a Chinese IPF cohort

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Hui Wang ◽  
Yi Zhuang ◽  
Hui Peng ◽  
Min Cao ◽  
Yan Li ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Genetic Factors ◽  
Smoking Status ◽  
Telomerase Reverse Transcriptase ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Significant Gene ◽  
The Relationship ◽  
Peripheral Blood Leucocytes

Abstract Genetic factors were identified to be associated with the development of idiopathic pulmonary fibrosis (IPF). We aimed to investigate associations between mucin 5B (MUC5B) and telomerase reverse transcriptase (TERT) polymorphisms and telomere length (TL) with honeycombing extent and survival in a Chinese IPF cohort. Seventy-nine patients diagnosed with IPF were enrolled. The honeycombing extents in high resolution CT scan (HRCT) were quantitatively scored and defined as mild (<10%), moderate (10–50%), and severe (>50%) upon the honeycombing extents involving the total lung. We tested five single-nucleotide polymorphisms [rs35705950, rs868903 in MUC5B, rs2736100, rs2853676 in TERT and rs1881984 in Telomerase RNA Gene (TERC) and TLs in peripheral blood leucocytes, and evaluated their associations with radiographic extent and survival in IPF. The minor allele frequencies (MAF) were significantly greater for MUC5B rs868903 (P = 0.042) and TERT rs2853676 (P = 0.041) in IPF than those in healthy controls. CT/CC genotype of MUC5B rs868903 (p = 0.045) and short TLs (p = 0.035) were correlated with the more extensive honeycombing opacities in HRCT. After adjustment for age, sex, and smoking status, MUC5B rs868903 polymorphism was the significant gene risk factors for reduced survival (p = 0.044) in IPF. MUC5B promoter rs868903 polymorphism and TLs were associated with radiographic extent and survival in a Chinese IPF cohort. These findings suggested a genetic clue for exploring the underlying molecular basis and pathogenesis of IPF.

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