Skip to main content
. 2023 Feb 25;21:148. doi: 10.1186/s12967-023-03987-x

Table 1.

Categories of genetic and environmental contributions in complex diseases. Genetic—Environment Spectrum

Disease G/E Spectrum Environmental Driver/Trigger Genetics
Tay-Sachs [11] G None Hexosaminidase A gene
Iminoglycinuria [12] G None Solute carrier family genes
AMED syndrome [13] G None Alcohol dehydrogenase genes
Prader-Willi (deletion) [14] G None Deletion of genes on Chromosome 15
Prader-Willi (uniparental disomy) [15] G/E Intracytoplasmic sperm injection (ICSI) Maternal uniparental disomy of Chromosome 15
alpha-1 antitrypsin [16] G/E Tobacco smoke, chemicals and dust impact severity SERPINA1 (serine protease inhibitor) gene
spina bifida [17] G/E Folate deficiency Methylenetetrahydrofolate reductase (MTHFR) gene
retinitis pigmentosa [18] G/E UV light exposure  > 60 genes identified
myopia [19] G/E Near work, outdoor exposure  > 27 genes identified
fetal alcohol syndrome [20] G/E Alcohol None, maternal ability to metabolize alcohol
ricin poisoning [21] E Ricin None

G genetic, G/E genetic and environmental, E environmental