A noncoding single-nucleotide polymorphism at 8q24 drives IDH1-mutant glioma formation
Establishing causal links between inherited polymorphisms and cancer risk is challenging. Here, we focus on the single-nucleotide polymorphism rs55705857, which confers a sixfold greater risk of isocitrate dehydrogenase (IDH)–mutant low-grade glioma (LGG)
C. Yanchus+42 more
semanticscholar +1 more source
Genomic diversity affects the accuracy of bacterial single-nucleotide polymorphism–calling pipelines
Background Accurately identifying single-nucleotide polymorphisms (SNPs) from bacterial sequencing data is an essential requirement for using genomics to track transmission and predict important phenotypes such as antimicrobial resistance.
Stephen J. Bush+9 more
semanticscholar +1 more source
Association of the leptin receptor Q223R (rs1137101) polymorphism with obesity measures in Sri Lankans [PDF]
OBJECTIVE: The role of genetic factors in the development of obesity is largely unreported in Sri Lankans. The Q223R (rs1137101) single nucleotide polymorphism (SNP) of the leptin receptor (LEPR) gene has been associated with obesity measures in various ...
Dalton, C.F.+3 more
core +1 more source
Association between SORL1 polymorphisms and the risk of Alzheimer's disease [PDF]
A meta-analysis was performed to identify empirical data assessing the effects of a single nucleotide polymorphisms of sortilin-related receptor on Alzheimer's disease based on 14 studies involving 37941 cases and 49727 control studies. Analysis showed, (
Lele Cong, Xiangyi Kong, Jing Wang, Jianshi Du, Zhongxin Xu, Yanan Xu, Qing Zhao
doaj +1 more source
High-density single nucleotide polymorphism (SNP) genotyping arrays are a powerful tool for studying genomic patterns of diversity, inferring ancestral relationships between individuals in populations and studying marker–trait associations in mapping ...
Shichen Wang+39 more
semanticscholar +1 more source
Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection [PDF]
Background: Tuberculosis (TB) is one of the most significant health-care problems worldwide. The host’s genetics play an important role in the development of TB in humans.
Elena Yu. Bragina+6 more
doaj +1 more source
p22phox C242T Single-Nucleotide Polymorphism Inhibits Inflammatory Oxidative Damage to Endothelial Cells and Vessels. [PDF]
BACKGROUND: The NADPH oxidase, by generating reactive oxygen species, is involved in the pathophysiology of many cardiovascular diseases and represents a therapeutic target for the development of novel drugs.
Brooks, G+6 more
core +1 more source
MMP-2 geno-phenotype is prognostic for colorectal cancer survival, whereas MMP-9 is not. [PDF]
The prognostic significance of single-nucleotide polymorphisms (SNPs) and tumour protein levels of MMP-2 and MMP-9 was evaluated in 215 colorectal cancer patients.
Hawinkels, LJAC+8 more
core +2 more sources
Software for tag single nucleotide polymorphism selection
This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two
Stram Daniel O
doaj +1 more source
The C242T polymorphism of the NAD(P)H oxidase p22(phox) subunit is associated with an enhanced risk for cerebrovascular disease at a young age [PDF]
Background and Purpose: Oxidative stress has been proposed as a major contributing factor for vascular disease, that acts independently from its participation in predisposing disorders such as diabetes and arterial hypertension.
Genius, Just+2 more
core +1 more source