ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
SERPINA1 Z allele is associated with cystic fibrosis liver disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.Human mutation · 2024Pooled it
- GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.Nature communications · 2022Pooled it
- Decoding liver injury in cystic fibrosis: How to tell drug-induced liver injury from cystic fibrosis liver disease.World journal of gastroenterology · 2026Review
- Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults.Frontiers in pediatrics · 2026Article
- Evaluation of Alpha1 Antitrypsin Deficiency-Associated Mutations in People with Cystic Fibrosis.Journal of clinical medicine · 2025Article
- Genetic and clinical factors influencing CF-associated liver disease: the impact ofMedicine and pharmacy reports · 2024Article
- Cystic fibrosis hepatobiliary involvement: an update on imaging in diagnosis and monitoring.Pediatric radiology · 2024Review
- Case Report: When cystic fibrosis, elexacaftor/tezacaftor/ivacaftor therapy, and alpha1 antitrypsin deficiency get together.Frontiers in pediatrics · 2024Article
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Human placental proteomics and exon variant studies link AAT/SERPINA1 with spontaneous preterm birth.BMC medicine · 2022Article
- Immunosuppressive landscape in hepatocellular carcinoma revealed by single-cell sequencing.Frontiers in immunology · 2022Article
- Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.Physiological reports · 2021Article
- Pleiotropic associations of heterozygosity for theERJ open research · 2021Article
- Identification and Characterization of Alcohol-related Hepatocellular Carcinoma Prognostic Subtypes based on an Integrative N6-methyladenosine methylation Model.International journal of biological sciences · 2021Article
- Current Treatment Options for Cystic Fibrosis-Related Liver Disease.International journal of molecular sciences · 2020Review
- The genetics and genomics of cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2020Review
- Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2020Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe SERPINA1 Z allele is associated with cystic fibrosis (CF)-related liver disease (CFLD), a common manifestation in patients with CF. We estimated CFLD incidence based on the SERPINA1 genotype in 3328 CF patients with CFLD-phenotype information.
methodsThe associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
resultsOverall, 3% of patients carried the SERPINA1 Z allele and 13% carried the S allele. The cumulative incidence of CFLD increased more rapidly in patients carrying the Z allele (hazard ratio [HR] = 1.6; 95% confidence interval [CI] = 1.1-2.4, P = 0.019), reaching 47% by age 25 compared with 30% in noncarriers. Increased risk was similar for patients with severe CFLD (HR = 1.5, 95% CI = 0.7-3.2, P = 0.31) but failed to reach significance due to a limited sample size of Z-allele carriers. No significant effect was found for the S allele.
conclusionCF patients carrying the SERPINA1 Z allele had an increased risk of developing CFLD and related complications compared with noncarriers. Routine SERPINA1 Z genotyping upon CF diagnosis is warranted for identifying patients worthy of closer liver disease monitoring.
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