ArticleEuropean journal of human genetics : EJHG2013
A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Assessing the causal association of glycine with risk of cardio-metabolic diseases.Nature communications · 2019Pooled it
- Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.American journal of hematology · 2015Trial
- Historical review: more than two decades understanding the genetic architecture of hemostasis and thrombosis.Journal of thrombosis and haemostasis : JTH · 2026Review
- Genome-wide association and linkage analysis of histidine-rich glycoprotein identifies common variants associated with plasma histidine-rich glycoprotein concentrations.Research and practice in thrombosis and haemostasis · 2025Article
- Implications of venous thromboembolism GWAS reported genetic makeup in the clinical outcome of ovarian cancer patients.The pharmacogenomics journal · 2021Article
- The Roles of GRKs in Hemostasis and Thrombosis.International journal of molecular sciences · 2020Review
- Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.Human molecular genetics · 2017Article
- Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study.Journal of thrombosis and haemostasis : JTH · 2015Article
- A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.Human molecular genetics · 2015Article
- Article
- Role of plasma kallikrein in diabetes and metabolism.Thrombosis and haemostasis · 2013Review
- Inflammation, coagulation and risk of locomotor disability in elderly women: findings from the British Women's Heart and Health Study.European journal of epidemiology · 2012Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Activated partial thromboplastin time (aPTT) is an important routine measure of intrinsic blood coagulation. Addition of activated protein C (APC) to the aPTT test to produce a ratio, provides one measure of APC resistance. The associations of some genetic mutations (eg, factor V Leiden) with these measures are established, but associations of other genetic variations remain to be established. The objective of this work was to test for association between genetic variants and blood coagulation using a high-density genotyping array. Genetic association with aPTT and APC resistance was analysed using a focused genotyping array that tests approximately 50 000 single-nucleotide polymorphisms (SNPs) in nearly 2000 cardiovascular candidate genes, including coagulation pathway genes. Analyses were conducted on 2544 European origin women from the British Women's Heart and Health Study. We confirm associations with aPTT at the coagulation factor XII (F12)/G protein-coupled receptor kinase 6 (GRK6) and kininogen 1 (KNG1)/histidine-rich glycoprotein (HRG) loci, and identify novel SNPs at the ABO locus and novel locus kallikrein B (KLKB1)/F11. In addition, we confirm association between APC resistance and factor V Leiden mutation, and identify novel SNP associations with APC resistance in the HRG and F5/solute carrier family 19 member 2 (SLC19A2) regions. In conclusion, variation at several genetic loci influences intrinsic blood coagulation as measured by both aPTT and APC resistance.
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