ArticleJournal of thrombosis and haemostasis : JTH2022
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.
Article in Journal of thrombosis and haemostasis : JTH, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Genome-wide investigation of exogenous female hormones, genetic variation, and venous thromboembolism risk.Journal of thrombosis and haemostasis : JTH · 2024Pooled it
- Alpha-1 antitrypsin deficiency associated with increased risk of venous thromboembolism: a nationwide cohort study in Denmark.Research and practice in thrombosis and haemostasis · 2026Article
- Real-world data on Factor V Leiden in Sweden: A nationwide family study.Journal of thrombosis and thrombolysis · 2026Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia · 2024Article
- Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development.Journal of human genetics · 2023Article
- "Super" SERPINs-A stabilizing force against fibrinolysis in thromboinflammatory conditions.Frontiers in cardiovascular medicine · 2023Review
- Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study.Journal of thrombosis and haemostasis : JTH · 2022Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSevere alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case-control study.
objectivesThis study aimed to determine the genetic variation in the SERPINA1 gene and a possible thrombotic risk of these variants in a population-based cohort study. PATIENTS/
methodsThe coding sequence of SERPINA1 was analyzed for the Z (rs28929474), S (rs17580), and other qualifying variants in 28,794 subjects without previous VTE (born 1923-1950, 60% women), who participated in the Malmö Diet and Cancer study (1991-1996). Individuals were followed from baseline until the first event of VTE, death, or 2018.
resultsResequencing the coding sequence of SERPINA1 identified 84 variants in the total study population, 21 synonymous, 62 missense, and 1 loss-of-function variant. Kaplan-Meier analysis showed that homozygosity for the Z allele increased the risk of VTE whereas heterozygosity showed no effect. The S (rs17580) variant was not associated with VTE. Thirty-one rare variants were qualifying and included in collapsing analysis using the following selection criteria, loss of function, in frame deletion or non-benign (PolyPhen-2) missense variants with minor allele frequency (MAF) <0.1%. Combining the rare qualifying variants with the Z variant showed that carrying two alleles (ZZ or compound heterozygotes) showed increased risk. Cox regression analysis revealed an adjusted hazard ratio of 4.5 (95% confidence interval 2.0-10.0) for combinations of the Z variant and rare qualifying variants. One other variant (rs141620200; MAF = 0.002) showed an increased risk of VTE.
conclusionsThe SERPINA1 ZZ genotype and compound heterozygotes for severe AATD are rare but associated with VTE in a population-based Swedish study.
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