α1‐Antitrypsin Z allele and risk of venous thromboembolism in the general population

Journal of Thrombosis and Haemostasis - Tập 20 - Trang 115-125 - 2022
Julie Riis1,2,3, Børge G. Nordestgaard1,2,3, Shoaib Afzal1,2,3
1Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
2The Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
3Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

Tài liệu tham khảo

Abboud, 2011, Alpha1‐antitrypsin deficiency: a clinical‐genetic overview, Appl Clini Genet, 4, 55, 10.2147/TACG.S10604 Gooptu, 2014, The molecular and cellular pathology of alpha(1)‐antitrypsin deficiency, Trends Mol Medi, 20, 116, 10.1016/j.molmed.2013.10.007 Luisetti, 2004, Alpha1‐antitrypsin deficiency. 1: epidemiology of alpha1‐antitrypsin deficiency, Thorax, 59, 164, 10.1136/thorax.2003.006494 Mayer, 2006, Risk factors for symptom onset in PI*Z alpha‐1 antitrypsin deficiency, Int J Chronic Obstruct Pulm Dis, 1, 485 Heck, 1974, Isolation and characterization of human factor XI (PTA) and inhibition of the activated enzyme by alpha 1‐antitrypsin, J Exp Med, 140, 1615, 10.1084/jem.140.6.1615 Walsh, 1987, Regulation of factor XIa activity by platelets and alpha 1‐protease inhibitor, J Clin Invest, 80, 1578, 10.1172/JCI113244 Gans, 1967, Alpha‐1‐antitrypsin, an inhibitor for thrombin and plasmin, Clin Chim Acta, 17, 111, 10.1016/0009-8981(67)90104-0 Matheson, 1976, Inactivation of human thrombin in the presence of human alpha1‐proteinase inhibitor, Biochem J, 159, 495, 10.1042/bj1590495 Clemmensen, 1976, Inhibition of urokinase by complex formation with human alpha1‐antitrypsin, Biochim Biophys Acta, 429, 591, 10.1016/0005-2744(76)90307-7 Heeb, 1988, Physiologic inhibition of human activated protein C by alpha 1‐antitrypsin, J Biol Chem, 263, 11613, 10.1016/S0021-9258(18)37825-6 Gupta, 2014, A rare case of alpha 1‐antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis, Anna Thoracic Med, 9, 39, 10.4103/1817-1737.124442 Milger, 2015, Identification of a novel SERPINA‐1 mutation causing alpha‐1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism, Int J Chronic Obstruct Pulm Dis, 10, 891, 10.2147/COPD.S80173 Basil, 2021, Severe alpha‐1‐antitrypsin deficiency increases the risk of venous thromboembolism, J Thromb Haemost, 19, 1519, 10.1111/jth.15302 Ingebrigtsen, 2015, Fibrinogen and alpha1‐antitrypsin in COPD exacerbations, Thorax, 70, 1014, 10.1136/thoraxjnl-2015-207561 The Copenhagen General Population Study. Available from: http://www.cgps.dk. Pedersen, 2011, The Danish civil registration system, Scand J Public Health, 39, 22, 10.1177/1403494810387965 Helweg‐Larsen, 2011, The Danish register of causes of death, Scand J Public Health, 39, 26, 10.1177/1403494811399958 Lynge, 2011, The Danish national patient register, Scand J Public Health, 39, 30, 10.1177/1403494811401482 Colak, 2015, Characteristics and prognosis of never‐smokers and smokers with asthma in the Copenhagen general population study. A prospective cohort study, Am J Respir Crit Care Med, 192, 172, 10.1164/rccm.201502-0302OC Wei, 1989, Regression analysis of multivariate incomplete failure time data by modeling marginal distributions, J Am Stat Assoc, 84, 1065, 10.1080/01621459.1989.10478873 Andersen, 1982, Cox's regression model for counting processes: a large sample study, Anna Stat, 10, 1100 Altman, 2011, How to obtain the confidence interval from a P value, BMJ, 343, d2090, 10.1136/bmj.d2090 Newson, 2013, Attributable and unattributable risks and fractions and other scenario comparisons, Stata J, 13, 672, 10.1177/1536867X1301300402 Tanash, 2016, Cause‐specific mortality in individuals with severe alpha 1‐antitrypsin deficiency in comparison with the general population in Sweden, Int J Chronic Obstruct Pulm Dis, 11, 1663, 10.2147/COPD.S109173 Lindström, 2019, Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism, Blood, 134, 1645, 10.1182/blood.2019000435 Klarin, 2019, Genome‐wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease, Nat Genet, 51, 1574, 10.1038/s41588-019-0519-3 Sundbøll, 2016, Positive predictive value of cardiovascular diagnoses in the Danish National Patient Registry: a validation study, BMJ Open, 6, 10.1136/bmjopen-2016-012832