Contents
What are SNPs used for?
Single nucleotide polymorphism (SNP) technologies can be used to identify disease-causing genes in humans and to understand the inter-individual variation in drug response. These areas of research have major medical benefits.
How do SNPs affect phenotype?
SNPs may change the encoded amino acids (nonsynonymous) or can be silent (synonymous) or simply occur in the noncoding regions. They may influence promoter activity (gene expression), messenger RNA (mRNA) conformation (stability), and subcellular localization of mRNAs and/or proteins and hence may produce disease.
Are SNPs associated with specific traits?
SNPs, however, are not just associated with genes; they can also occur in noncoding regions of DNA. In addition, if certain SNPs are known to be associated with a trait, then scientists may examine stretches of DNA near these SNPs in an attempt to identify the gene or genes responsible for the trait.
Do SNPs cause disease?
They can act as biological markers, helping scientists locate genes that are associated with disease. When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function. Most SNPs have no effect on health or development.
Where is a SNP most likely to have an effect on a phenotype or trait?
The SNPs most likely to have a direct impact on the protein product of a gene are coding region SNPs (cSNPs) that change amino acid sequence, and SNPs in gene regulatory regions, which control protein levels.
Many of these studies have involved the analysis of SNP associations with complex human disease traits.
How are Association modules constructed in SNP clusters?
(C) Association modules are constructed as elements of the powerset of phenotypes observed in the SNP clusters. Association modules can thus be seen as non-overlapping sets of SNPs, or overlapping sets of phenotypes. These modules form the axes of powerset space.
How are multi phenotype associations used in GWAS?
Various patterns of multi-phenotype associations (MPAs) exist in the results of Genome Wide Association Studies (GWAS) involving different topologies of single nucleotide polymorphism (SNP)-phenotype associations.
Which is the phenomenon of gene affecting multiple phenotypes?
Pleiotropy is the phenomenon in which a gene affects multiple phenotypes (Tyler et al., 2009). One can also have a locus-centric view of pleiotropy involving a single SNP affecting multiple phenotypes (Solovieff et al., 2013).