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The top 100 ranking SNPs associated with AAT serum level in SAPALDIAN1392

The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsinwhich is a type of serine protease inhibitorserpinSerpins help control several types of chemical reactions by blockinginhibitingthe activity of certain enzymesAlpha-1 antitrypsin prevents the digestive enzyme trypsin from breaking down proteins until trypsin reaches the intestinesAlpha-1 antitrypsin also inhibits other enzymesincluding a powerful enzyme called neutrophil elastase that is released from white blood cells to fight infection.

AffiliationDepartments of Health Sciences and GeneticsUniversity of LeicesterLeicesterUnited Kingdom.

Other SERPINA1 gene mutations lead to the production of an abnormally small form of alpha-1 antitrypsin that is quickly broken down in the liverAs a resultlittle or no alpha-1 antitrypsin is available in the lungsWhile the liver remains healthy in individuals with these mutationsthe lungs are left unprotected from neutrophil elastase.

Expand Figure 4LD plot among common and low-frequent SNPs in the SERPINA1 gene within the SAPALDIA study.

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as mentioned above, it is also possible to use detection methods of the invention to characterize serpina-1 and or albumin polypeptides levels by monitoring changes in levels of serpina-1 and or albumin polypeptides over time.