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Genome-Wide
Association Studies
(GWAS)
GWAS is a statistical analysis of Single
Nucleotide Polymorphisms (SNPs), looking
To identify differences in frequency between
disease cases and controls.
SNPs linked with disease will be found at
different frequencies in cases versus controls.
Association is represented by the level of
statistical significance (p-value) of the SNP
frequency difference.
SNPs can be tested across the genome
and mapped to specific regions.
Single Nucleotide
Polymorphism (SNP)
GGCCAGCTGGAGGAGG
GGCCAGCTGGAT GAGG
- log10 (pvalue)
200-
100-
50
20
5
10
5
2
1
4
102.2
5 6
102.4
7
FLA+
LOD
102.8
8
9 10 11 12
COL
CREA
Cases
1028
ns11123923
AIRLI
CRNI
LIBRA
M772
SLCOME
14
SCOL
1032
16
TEMI
1034
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