Quantile-specific heritability of plasminogen activator inhibitor type-1 (PAI-1, aka SERPINE1) and other hemostatic factors.

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Abstrakt

Tytuł:: Quantile-specific heritability of plasminogen activator inhibitor type-1 (PAI-1, aka SERPINE1) and other hemostatic factors.
Autorzy:: Williams PT; Lawrence Berkeley National Laboratory, Molecular Biophysics & Integrated Bioimaging Division, Berkeley, CA, USA.
Źródło:: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Oct; Vol. 19 (10), pp. 2559-2571. Date of Electronic Publication: 2021 Aug 08.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: 2023- : [New York] : Elsevier
Original Publication: Oxford : Blackwell Pub.
MeSH Terms:: Hemostatics*
Plasminogen Activator Inhibitor 1*/genetics
Alleles ; Fibrinolysis ; Genotype ; Humans
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Grant Information:: R21 ES020700 United States ES NIEHS NIH HHS; N01HC25195 United States HL NHLBI NIH HHS; HHSN268201500001I United States HL NHLBI NIH HHS
Contributed Indexing:: Keywords: SERPINE1; factor VII; gene-environment interaction; heritability; plasminogen activator inhibitor type-1; von Willebrand factor
Substance Nomenclature:: 0 (Hemostatics)
0 (Plasminogen Activator Inhibitor 1)
0 (SERPINE1 protein, human)
Entry Date(s):: Date Created: 20210717 Date Completed: 20211025 Latest Revision: 20230829
Update Code:: 20240105
DOI:: 10.1111/jth.15468
PMID:: 34273240
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Background: Plasminogen activator inhibitor type-1 (PAI-1, aka SERPINE1) is a moderately heritable glycoprotein that regulates fibrin clot dissolution (fibrinolysis).
Objectives: Test whether the heritabilities (h 2 ) of PAI-1 and other hemostatic factors are constant throughout their distribution or whether they are quantile-specific (i.e., a larger or smaller h 2 depending on whether their concentrations are high or low).
Methods: Quantile regression was applied to 5606 parent-offspring pairs and 5310 full siblings of the Framingham Heart Study. Quantile-specific heritability was estimated from the parent-offspring regression slope (β PO , h 2 = 2β PO /(1+r spouse )) and the full-sib regression slope (β FS , h 2 = {(1+8r spouse β FS ) 0.5 -1}/(2r spouse )).
Results: Heritability (h 2 ± SE) increased significantly with increasing percentiles of the offspring's age- and sex-adjusted PAI-1 distribution when estimated from β PO (p linear trend = 0.0001): 0.09 ± 0.02 at the 10th, 0.09 ± 0.02 at the 25th, 0.16 ± 0.02 at the 50th, 0.29 ± 0.04 at the 75th, and 0.26 ± 0.08 at the 90th percentile of the PAI-1 distribution, and when estimated from β FS (p linear trend = 6.5x10 -7 ). There was no significant evidence for quantile-specific heritability for factor VII (p linear trend = 0.35), D-dimer (p linear trend = 0.08), tPA (p linear trend = 0.74), or von Willebrand factor (p linear trend = 0.79).
Conclusion: Higher mean plasma PAI-1 antigen concentrations tend to accentuate genetic effects (quantile-dependent expressivity), which is consistent with the greater reported differences in PAI-1 concentrations between rs1799889 SERPINE1 (4G/5G) genotypes in patients with osteonecrosis, meningococcal sepsis, obesity, prior myocardial infarction, deep vein thrombosis, and polycystic ovarian syndrome than in healthy controls. It is also consistent with the greater increases in PAI-1 concentrations in 4G-allele carriers than 5G/5G homozygotes following fibrinolytic treatment, low-salt intake, and high saturated fat intake.
(Published 2021. This article is a U.S. Government work and is in the public domain in the USA.)

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