Rs28929474

rs28929474, also known as Glu342Lys as well as E366K, is a SNP in the serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 SERPINA1 gene.

This SNP is the one most frequently leading, when homozygous, to the complications of alpha-1 antitrypsin deficiency and the associated high risk of emphysema and liver disease. Between 1 - 2% of US Caucasians are thought to be (heterozygous) carriers for this SNP, leading some associations, like the Alpha-1 Foundation, to call for mass carrier screening.


 * 23andMe blog rs28929474(T) increases odds of liver disease in cystic fibrosis patients by 4.17 times. (T;T) at both copies of this SNP causes alpha-1 antitrypsin deficiency; note use of opposite strand nomenclature by this company.

Genetic polymorphisms and susceptibility to lung disease.

Prevalence of genetic polymorphisms in the promoter region of the alpha-1 antitrypsin (SERPINA1) gene in chronic liver disease: a case control study.

Serum levels and genotype distribution of alpha1-antitrypsin in the general population.

Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation.

Alpha 1-antitrypsin deficiency associated with panniculitis.

Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model.