Results 11 to 20 of about 238,587 (230)
Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease. [PDF]
Hepatol Commun, 2021 The serpin family A member 1 (SERPINA1) Z allele is present in approximately one in 25 individuals of European ancestry. Z allele homozygosity (Pi*ZZ) is the most common cause of alpha 1‐antitrypsin deficiency and is a proven risk factor for cirrhosis.
Hakim A +9 more
europepmc +4 more sources
Alpha-1 Antitrypsin Z Variant (AAT PI*Z) as a Risk Factor for Intrahepatic Cholestasis of Pregnancy. [PDF]
Front Genet, 2021 Background: Intrahepatic cholestasis of pregnancy (ICP; prevalence 0.2–15.6%) is the most common pregnancy-related liver disorder. It may have serious consequences for a pregnancy, including increased risk of preterm delivery, meconium staining of amniotic fluid, fetal bradycardia, distress, and fetal demise.
Kosinski P +9 more
europepmc +5 more sources
PulmonologyIntroduction and objectives Asthma is a chronic inflammatory disease of the airways. Asthma patients may experience potentially life-threatening episodic flare-ups, known as exacerbations, which may significantly contribute to the asthma burden. The Pi*S
Elena Martín-González +27 more
doaj +6 more sources
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. [PDF]
Eur Clin Respir J, 2015 The prevalence of PI*Z and PI*S alleles of SERPINA1 gene related to alpha-1-antitrypsin deficiency has previously been estimated to be lower in Finland than in the other countries of Northern Europe. The prevalence of PI*M (Malton) has not been studied in Finland before. We determined alpha-1-antitrypsin PI*Z and PI*S and PI*M (Malton) genotypes from a
Häggblom J +5 more
europepmc +5 more sources
Monaldi Archives for Chest Disease, 2016 Background. AAT deficiency is not a rare disease, but one of the most common congenital disorders increasing susceptibility of deficiency individuals to both lung and liver disease as well as other several adverse health effects.
F.J. de Serres +2 more
doaj +3 more sources
Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis. [PDF]
World J HepatolBACKGROUND Alpha-1 antitrypsin deficiency (AATD) is a codominant autosomal hereditary condition that predisposes patients to the development of lung and/or liver disease, and Pi*Z allele is the most clinically relevant mutation. AIM To evaluate the impact of clinical parameters and AATD phenotypes, particularly the Pi*Z ...
Ferreira AI +5 more
europepmc +3 more sources
Pi∗S and Pi∗Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4-Independent Enhancer. [PDF]
Hum MutatAlpha‐1 antitrypsin deficiency (AATD) is a genetic disorder caused by specific variants in the SERPINA1 gene, which encodes AAT. The most common disease‐associated SERPINA1 variants are Pi ∗ S and Pi ∗ Z alleles, which cause moderate and severe AATD, respectively. Recent studies have reported the presence of a possible regulator of SERPINA gene cluster
Escuela-Escobar A +5 more
europepmc +4 more sources
Risk factors for symptom onset in PI*Z alpha-1 antitrypsin deficiency [PDF]
International Journal of COPD, 2006 In an early study of highly symptomatic patients with PI*Z alpha-1 antitrypsin deficiency (AAT), tobacco smoking was identified as a risk factor by comparing the age of symptom onset in smokers and nonsmokers. Age of symptom onset has not been well studied in relationship to other environmental exposures.Environmental exposures were assessed in 313 PI ...
Annyce S, Mayer +6 more
openaire +2 more sources
Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis [PDF]
Gut, 2018 Objective Homozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we evaluated the impact of the two most relevant AAT variants (‘Pi*Z’ and ‘Pi*S’), present in up to 10% of Caucasians, on subjects with non ...
Strnad, Pavel +59 more
openaire +10 more sources
The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia: A case-control study. [PDF]
Medicine (Baltimore), 2017 Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected ...
Al-Jameil N +10 more
europepmc +3 more sources