Ten Conditions Associated with Inherited Variation

Table 8.5 Ten Conditions Associated with Inherited Variationa Condition Complications Gene Variant(s) or Marker(s) Alpha—1 antitrypsin deficiency Lung and liver disease SERPINA1 P|*Z, Pl*S Alzheimer disease (late onset) Memory and cognitive APOE rs7412, rs429358 symptoms Celiac disease (gluten sensitivity) Digestive symptoms HLA D02, D08 Factor XI deficiency Blood-clotting disorder F11 IVS14+1 G>A, F283L, E117X Gaucher disease Organ and tissue damage GBA V394L, N37OS, 84GG GéPD deficiency Red blood cell damage GéPD VAL68MET, ASN126ASP Hereditary hemochromatosis lron overload HFE H63D, $65C, C282Y Hereditary thrombophilia Blood-clotting disorder F2, F5 Prothrombin GZOZ1OA, Factor V Leiden Parkinson disease Neurological symptoms LRRKZ, GBA 620195, N37OS Primary dystonia (early onset) Muscle control problems DYTi deltaE320 a Ten conditions approved by the US. FDA for risk association screening by 23andMe.