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Alpha-1 antitrypsin deficiency

From SNPedia

SNPs associated with reduced levels of the enzyme alpha-1 antitrypsin (encoded by the SERPINA1 gene):

  • rs17580 (risk genotype (T;T) in SNPedia orientation)
  • rs28929474 (risk genotype (A;A) in SNPedia orientation)

Depending on the genetic variant, alpha-1 antitrypsin deficiency can lead to chronic obstructive pulmonary disease (COPD) or emphysema and can cause liver disease. Smokers who carry particular variants are especially susceptible. The SNP with the most severe effects is most common among people with Scandinavian ancestry, according to a report from [23andMe].

ClinGen has issued an Actionability recommendation for carriers of PiS and PiZ alleles which can be found here, and additional information about the PiS and PiZ genotypes is available on SNPedia's SERPINA1 page.