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Thrombotic risk det...
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study
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- Manderstedt, Eric (author)
- Kristianstad University,Biomedicin,Faculty of Natural Science,Fakulteten för naturvetenskap
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- Halldén, Christer (author)
- Kristianstad University,Biomedicin,Faculty of Natural Science,Fakulteten för naturvetenskap
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- Lind-Halldén, Christina (author)
- Kristianstad University
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- Elf, J. (author)
- Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups
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- Svensson, P.J. (author)
- Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups
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- Engström, G. (author)
- Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups
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- Melander, O. (author)
- Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups
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- Baras, Aris (author)
- Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.
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- Lotta, Luca A. (author)
- Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.,Regeneron Pharmaceuticals, Inc.
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- Zöller, B. (author)
- Lund University,Lunds universitet,Allmänmedicin, kardiovaskulär medicin och genetik,Forskargrupper vid Lunds universitet,Family medicine, cardiovascular medicine and genetics,Lund University Research Groups
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(creator_code:org_t)
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- Elsevier BV, 2022
- 2022
- English.
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In: Journal of Thrombosis and Haemostasis. - : Elsevier BV. - 1538-7933 .- 1538-7836. ; 20:6
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Abstract
Subject headings
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- Background: Severe alpha-1-antitrypsin deficiency (AATD), phenotype PiZZ, was associated with venous thromboembolism (VTE) in a case-control study. Objectives: This 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/Methods: The 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. Results: Resequencing 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)
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- alpha-1-antitrypsin
- epidemiology
- genetics
- SERPINA1
- venous thromboembolism
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Manderstedt, Eri ...
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Halldén, Christe ...
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Lind-Halldén, Ch ...
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Elf, J.
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Svensson, P.J.
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Engström, G.
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show more...
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Melander, O.
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Baras, Aris
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Lotta, Luca A.
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Zöller, B.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of Throm ...
- By the university
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Lund University
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Kristianstad University College