Alpha-1-Antitrypsin (PI) Polymorphism in France, with Special Regard to the PI*Z Allele

Sesboüé, Richard; Martin, Josiane

doi:10.1159/000154022

Cited by 14 publications

(1 citation statement)

References 17 publications

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“…AATD is an autosomal, codominant, genetic disorder that is characterized by low circulating levels of AAT as a result of a mutation of the SERPINA1 gene. The worldwide frequency of AATD varies according to population and is particularly prevalent in Europe with multiple studies reporting a high prevalence of the deficiency alleles in Poland, 19 , 20 France, 21 Italy 22 and Ireland. 23 AATD is characterized by circulating levels <11 µmol/L, which is the putative protective threshold level.…”

Section: Aat Deficiencymentioning

confidence: 99%

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

Dunlea

Fee

McEnery

et al. 2018

JIR

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Alpha-1 antitrypsin (AAT) is the most abundant serine protease inhibitor circulating in the blood. AAT deficiency (AATD) is an autosomal codominant condition affecting an estimated 3.4 million individuals worldwide. The clinical disease associated with AATD can present in a number of ways including COPD, liver disease, panniculitis and antineutrophil cytoplasmic antibody vasculitis. AATD is the only proven genetic risk factor for the development of COPD, and deficient individuals who smoke are disposed to more aggressive disease. Principally, AAT is a serine protease inhibitor; however, over the past number of years, the assessment of AAT as simply an antiprotease has evolved, and it is now recognized that AAT has significant anti-inflammatory properties affecting a wide range of cells, including the circulating neutrophil.

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Section: Aat Deficiencymentioning

confidence: 99%

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

Dunlea

Fee

McEnery

et al. 2018

JIR

View full text Add to dashboard Cite

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Absence of the alpha-1-antitrypsin PI*Z allele in Tunisia substantiates the particular genetic structure of African populations

et al. 1997

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Risk factors for cirrhosis in patients with chronic hepatitis C virus infection: Results of a case-control study

et al. 1997

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The role of the viral genotype, especially genotype 1b, in the severity of liver injury induced by chronic hepatitis C virus (HCV) infection is unclear, probably because of confounding factors such as the date and mode of contamination. Host genetic or environmental factors such as heterozygous MZ alpha1-antitrypsin deficiency or alcoholism, could also be potential risk factors for the development of cirrhosis. The aim of this study was to compare the prevalence of genotypes, alpha1-antitrypsin phenotype, past hepatitis B virus infection, and alcohol consumption in cirrhotic and noncirrhotic patients with chronic hepatitis C. We conducted a case-control study comparing 84 consecutive cirrhotic patients with chronic hepatitis C (cases) with 84 noncirrhotic patients with chronic hepatitis C (controls) selected from a cohort of 464 patients hospitalized during the same period. Controls were paired with cases according to age, sex, risk factors, and date of infection. HCV genotypes were determined using the InnoLiPA technique (Innogenetics, Zwijnaarde, Belgium) and classified according to the method of Simmonds. Patients were divided in three groups according to alcohol consumption: <30 g/d (light), 30 to 80 g/d (moderate), and >80 g/d (heavy). Cirrhotic and noncirrhotic patients were not significantly different in terms of genotype distribution (1a/1b/2a/3a/others/undetermined: 10/48/7/17/0/2 versus 11/43/10/10/5/5), alpha1-antitrypsin phenotype distribution (MM/MS/MZ: 84%/14%/2% vs. 87%/11%/2%, respectively), and prevalence of antibody to hepatitis B core antigen positivity (29% vs. 23%). Alcohol consumption was significantly different between cases and controls (L/M/H: 58%/27%/16% vs. 76%/15%/9%, respectively; P < .05). Two conclusions regarding patients with chronic hepatitis C virus infection can be drawn from this study: 1) viral genotype, especially 1b, past hepatitis B virus infection, and heterozygous MZ alpha1-antitrypsin deficiency are not risk factors for cirrhosis; and 2) alcohol consumption, even moderate, is a risk factor for cirrhosis.

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Alpha-1-Antitrypsin (PI) Polymorphism in France, with Special Regard to the PI*Z Allele

Cited by 14 publications

References 17 publications

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals

Absence of the alpha-1-antitrypsin PI*Z allele in Tunisia substantiates the particular genetic structure of African populations

Risk factors for cirrhosis in patients with chronic hepatitis C virus infection: Results of a case-control study

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