SNPs in miRNAs and Target Sequences: Role in Cancer and Diabetes

miRNAs are fascinating molecular players for gene regulation as individual miRNA can control multiple targets and a single target can be regulated by multiple miRNAs. Loss of miRNA regulated gene expression is often reported to be implicated in various human diseases like diabetes and cancer. Recently, geneticists across the world started reporting single nucleotide polymorphism (SNPs) in seed sequences of miRNAs. Similarly, SNPs are also reported in various target sequences of these miRNAs. Both the scenarios lead to dysregulated gene expression which may result in the progression of diseases. In the present paper, we explore SNPs in various miRNAs and their target sequences reported in various human cancers as well as diabetes. Similarly, we also present evidence of these mutations in various other human diseases.

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The −5 A/G single-nucleotide polymorphism in the core promoter region of MT2A and its effect on allele-specific gene expression and Cd, Zn and Cu levels in laryngeal cancer

Toxicology and Applied Pharmacology ◽

10.1016/j.taap.2014.08.016 ◽

2014 ◽

Vol 280 (2) ◽

pp. 256-263 ◽

Cited By ~ 7

Author(s):

Katarzyna Starska ◽

Anna Krześlak ◽

Ewa Forma ◽

Jurek Olszewski ◽

Alina Morawiec-Sztandera ◽

...

Keyword(s):

Gene Expression ◽

Single Nucleotide Polymorphism ◽

Promoter Region ◽

Core Promoter ◽

Specific Gene ◽

Nucleotide Polymorphism ◽

Core Promoter Region ◽

Single Nucleotide ◽

The Core ◽

Allele Specific

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The Human Glucocorticoid Receptor β Single Nucleotide Polymorphism GR9βA3669G Alters Gene Expression.

10.1210/endo-meetings.2010.part1.p1.p1-26 ◽

2010 ◽

pp. P1-26-P1-26

Author(s):

CM Jewell ◽

JA Cidlowski

Keyword(s):

Gene Expression ◽

Single Nucleotide Polymorphism ◽

Glucocorticoid Receptor ◽

Nucleotide Polymorphism ◽

Single Nucleotide

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Combined single nucleotide polymorphism-based genomic mapping and global gene expression profiling identifies novel chromosomal imbalances, mechanisms and candidate genes important in the pathogenesis of T-cell prolymphocytic leukemia with inv(14)(q11q32)

Leukemia ◽

10.1038/sj.leu.2404877 ◽

2007 ◽

Vol 21 (10) ◽

pp. 2153-2163 ◽

Cited By ~ 64

Author(s):

J Dürig ◽

S Bug ◽

L Klein-Hitpass ◽

T Boes ◽

T Jöns ◽

...

Keyword(s):

Gene Expression ◽

Single Nucleotide Polymorphism ◽

T Cell ◽

Expression Profiling ◽

Global Gene Expression ◽

Genomic Mapping ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Prolymphocytic Leukemia ◽

Global Gene Expression Profiling

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Single Nucleotide Polymorphism and its Application in Mapping Loci Involved in Developing Human Diseases and Traits

Handbook of Research on Computational and Systems Biology ◽

10.4018/978-1-60960-491-2.ch005 ◽

2011 ◽

pp. 113-127

Author(s):

Rui-Ru Ji

Keyword(s):

Single Nucleotide Polymorphism ◽

Complex Traits ◽

Single Gene ◽

Complex Trait ◽

Human Diseases ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Systematic Analysis ◽

Success Stories ◽

Mapping Process

Common diseases or traits in humans are often influenced by complex interactions among multiple genes as well as environmental and lifestyle factors rather than being attributable to a genetic variation within a single gene. Identification of genes that confer disease susceptibility can be facilitated by studying DNA markers such as single nucleotide polymorphism (SNP) associated with a disease trait. Genome-wide association approaches offers a systematic analysis of the association of hundreds of thousands of SNPs with a quantitative complex trait. This method has been successfully applied to a wide variety of common human diseases and traits, and has generated valuable findings that have improved the understanding of the genetic basis of many complex traits. This chapter outlines the general mapping process and methods, highlights the success stories, and describes some limitations and challenges that lie ahead.

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A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ◽

10.1016/j.mrfmmm.2005.01.007 ◽

2005 ◽

Vol 573 (1-2) ◽

pp. 83-95 ◽

Cited By ~ 53

Author(s):

Christian Jurinke ◽

Mikhail F. Denissenko ◽

Paul Oeth ◽

Matthias Ehrich ◽

Dirk van den Boom ◽

...

Keyword(s):

Gene Expression ◽

Single Nucleotide Polymorphism ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Expression Modulation ◽

Identification And Characterization

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Transcriptomics and functional genetic polymorphisms as biomarkers of micronutrient function: focus on selenium as an exemplar

Proceedings of The Nutrition Society ◽

10.1017/s0029665111000115 ◽

2011 ◽

Vol 70 (3) ◽

pp. 365-373 ◽

Cited By ~ 20

Author(s):

John Hesketh ◽

Catherine Méplan

Keyword(s):

Gene Expression ◽

Single Nucleotide Polymorphism ◽

Stress Response ◽

Association Studies ◽

Disease Association ◽

Genomic Research ◽

Polymorphism Analysis ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Selenoprotein S

Micronutrients are essential for optimal human health. However, in some cases, raising intake by supplementation has not proven to be beneficial and there is even some evidence that supplementation may increase disease risk, highlighting the importance of assessing the functional status of micronutrients. Techniques such as gene microarrays and single-nucleotide polymorphism analysis have the potential to examine effects of micronutrient intake on patterns of gene expression and inter-individual variation in micronutrient metabolism. Recent genomic research related to selenium (Se) provides examples illustrating how studies of functional single-nucleotide polymorphism and gene expression patterns can reveal novel biomarkers of micronutrient function. Both in vitro and in vivo experiments show that there are functionally relevant polymorphisms in genes encoding glutathione peroxidases 1, 3 and 4, selenoprotein P, selenoprotein S and the 15 kDa selenoprotein. Disease association studies investigating these gene variants have so far been relatively small but an association of a polymorphism in the selenoprotein S gene with colorectal cancer risk has been replicated in two distinct populations. Future disease association studies should examine effects of multiple variants in combination with nutritional status. Gene microarray studies indicate that changes in Se intake alter expression of components of inflammatory, stress response and translation pathways. Our hypothesis is that Se intake and genetic factors have linked effects on stress response, inflammation and apoptotic pathways. Combining such data in a systems biology approach has the potential to identify both biomarkers of micronutrients status and sub-group populations at particular risk.

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