appendix

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Online Appendix for the following JACC article
TITLE: Genetics and Genomics of Stroke: Novel Approaches
AUTHOR: Alison E. Baird, PHD
APPENDIX
Glossary (34,35)
Allele
One of several variants of a gene, usually referring to a
specific site on a gene. The allele at a particular SNP that
is most frequent in a population is the “common” or “wild
type” allele. The allele that is least frequent is the
“variant” allele
Candidate-gene association
Study that evaluates the association of specific genetic
variants with an outcome of interest, the variants chosen
based on their postulated association with the outcome or
disease
Copy number variants
Deletions and duplications of deoxyribonucleic acid (DNA)
strands of between a few hundred base pairs and several
million base pairs
Exon
A sequence of DNA that codes information for protein
synthesis that is transcribed to messenger ribonucleic acid
(RNA)
Gene
The unit of hereditary material (DNA) that causes a
particular phenotype (generally assumed to be caused by a
protein)
Genetics
The study of inheritance, the way traits are passed from one
generation to another
Genome-wide association
Study that evaluates associations of genetic variation with
outcomes or traits of interest by using 100,000 to 1,000,000
or more markers across the genome
Genomics
The study of the whole genome and the interaction among
those genes and the environment
Haplotype
Pattern of consecutive allelic variations on each of the
chromosomes; single nucleotide polymorphisms in close
proximity mean that some alleles tend to occur together on
the same chromosome and may be inherited together
Linkage
Occurs when particular genetic loci or alleles for genes are
inherited jointly because they occur on the same
chromosome
Locus
The site on a chromosome at which the gene for a
particular trait is located, or on a gene at which a particular
SNP is located
Metabolomics
The study of the full set of metabolites encoded by a
genome
Missense mutation
Genetic change involving the substitution of one base in the
DNA for another which results in the substitution of one
amino acid for another
Mutation
A rare variant in a gene, occurring in <1% of the population
(cf polymorphism)
Polymorphism
The existence of two or more variants of a gene, with the
less common variant occurring with at least 1% frequency
in the population (cf mutation); types include single
nucleotide polymorphism (most common type), insertion,
deletion, and tandem repeat
PAR
Population attributable risk: the reduction in disease
incidence that would be observed if a population was
entirely unexposed to a risk factor, compared with its
current (actual) exposure pattern
Proteomics
The study of the full set of proteins encoded by a genome
SNP
Single nucleotide polymorphism: variation at a single base
pair location, compared with the “common” or “wild-type”
sequence
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