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 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 <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.

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.

THE RELATIONSHIP OF TWO XANTHINE OXIDASE SINGLE NUCLEOTIDE POLYMORPHISMS TO HYPERURICEMIA, GOUT, AND DOSE OF XANTHINE OXIDASE INHIBITOR

2013 ◽  
Vol 16 (01) ◽  
pp. 1350004 ◽  
Author(s):  
Matthew B. Carroll ◽  
Mauricio DeCastro-Pretelt ◽  
Nicole Hust ◽  
Freddie Smith ◽  
Tigist Belema ◽  
...  
Keyword(s):  
Uric Acid ◽  
Single Nucleotide Polymorphisms ◽  
Xanthine Oxidase ◽  
Serum Uric Acid ◽  
Treatment Goal ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Relationship Of ◽  
The Relationship

Background: There is evidence linking xanthine oxidase (XO) single nucleotide polymorphisms (SNPs) to multiple medical conditions. The relationship of XO SNPs to hyperuricemia/gout is limited. An in vitro study of serum from healthy adults found two XO SNPs at 2107A > G and 3662A > G associated with a two-fold higher activity of the enzyme. Materials and Methods: The main outcomes of this study were to determine if the presence of either 2107A > G or 3662A > G XO SNP led to the occurrence of hyperuricemia, gout, or necessitated a higher dose of XO inhibitor (XOI) to achieve a treatment goal of less than 6 mg/dL. A total of 72 patients were enrolled in the hyperuricemia/gout group; 41 in the control group. XO SNPs were amplified and sequenced. Patient interviews and chart reviews gathered demographic data, use of XOI, comorbidities, and serum uric acid levels. Results: The 2107A > G SNP was detected in six patients with hyperuricemia/gout and two patients in the control group. There was no association between either XO SNP with the occurrence of hyperuricemia/gout (p = 0.709). A higher dose of allopurinol was needed to achieve a treatment serum uric acid goal of less than 6 mg/dL (p = 0.049). The 3662A > G SNP was not identified in any patients in the either group of the study. Conclusion: While the presence of 2107A > G SNP had no relationship to hyperuricemia or gout in our cohort it did affect the dose of allopurinol needed to achieve a treatment goal of less than 6 mg/dL. The 3662A > G SNP was not identified in our sample.

A Decade of Disparities in Diabetes Technology Use and HbA1c in Pediatric Type 1 Diabetes: A Trans-Atlantic Comparison

2020 ◽  
Author(s):  
Ananta Addala ◽  
Marie Auzanneau ◽  
Kellee Miller ◽  
Werner Maier ◽  
Nicole Foster ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Technology Use ◽  
Hemoglobin A1c ◽  
Diabetes Technology ◽  
Design And Methods ◽  
Relationship Of ◽  
The Relationship ◽  
Pediatric Type 1 Diabetes

<b>Objective:</b> As diabetes technology use in youth increases worldwide, inequalities in access may exacerbate disparities in hemoglobin A1c (HbA1c). We hypothesized an increasing gap in diabetes technology use by socioeconomic status (SES) would be associated with increased HbA1c disparities. <p> </p> <p><b>Research Design and Methods: </b>Participants aged <18 years with diabetes duration ≥1 year in the Type 1 Diabetes Exchange (T1DX, US, n=16,457) and Diabetes Prospective Follow-up (DPV, Germany, n=39,836) registries were categorized into lowest (Q1) to highest (Q5) SES quintiles. Multiple regression analyses compared the relationship of SES quintiles with diabetes technology use and HbA1c from 2010-2012 and 2016-2018. </p> <p> </p> <p><b>Results: </b>HbA1c was higher in participants with lower SES (in 2010-2012 & 2016-2018, respectively: 8.0% & 7.8% in Q1 and 7.6% & 7.5% in Q5 for DPV; and 9.0% & 9.3% in Q1 and 7.8% & 8.0% in Q5 for T1DX). For DPV, the association between SES and HbA1c did not change between the two time periods, whereas for T1DX, disparities in HbA1c by SES increased significantly (p<0.001). After adjusting for technology use, results for DPV did not change whereas the increase in T1DX was no longer significant.</p> <p> </p> <p><b>Conclusions: </b>Although causal conclusions cannot be drawn, diabetes technology use is lowest and HbA1c is highest in those of the lowest SES quintile in the T1DX and this difference for HbA1c broadened in the last decade. Associations of SES with technology use and HbA1c were weaker in the DPV registry. </p>

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