Table 3.
Description of the polymorphisms studied
| Gene | Protein | SNP | Allele change |
Location/amino acid change |
Clinical Association |
|---|---|---|---|---|---|
| CHIA | Acid mammalian chitinase | rs3818822 G339T |
G => A G => T |
Gly102 => Arg Arg61 => Met |
Associated with asthma (Bierbaum 2005; Seibold 2009) |
| CHIT1 | Chitotriosidase | rs2494303 | C => A | Intron | High linkage disequilibrium with 24-bp duplication that was associated with reduced chitinase activity in the lungs of smokers (Seibold 2008) |
| CHI3L1 | YKL-40 | rs4950928 | C => G | 5’ untranslated region | Associated with asthma (Ober 2008) |