ArticleHuman molecular genetics2010
Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Meta-Analysis of Factor V, Factor VII, Factor XII, and Factor XIII-A Gene Polymorphisms and Ischemic Stroke.Medicina (Kaunas, Lithuania) · 2019Pooled it
- Ischemic stroke is associated with the ABO locus: the EuroCLOT study.Annals of neurology · 2013Pooled it
- Article
- Thrombophilia-Related Single Nucleotide Variants and Altered Coagulation Parameters in a Cohort of Mexican Women with Recurrent Pregnancy Loss.Diagnostics (Basel, Switzerland) · 2025Article
- Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study.PLoS genetics · 2022Article
- Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.Journal of the American Heart Association · 2021Article
- The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.Frontiers in genetics · 2020Article
- The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis.BMC medical genetics · 2018Article
- Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.Thrombosis and haemostasis · 2016Article
- Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system.BMC medical genetics · 2016Article
- Resilience to orthostasis and haemorrhage: A pilot study of common genetic and conditioning mechanisms.Scientific reports · 2015Article
- A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.Human molecular genetics · 2015Article
- The role of large pedigrees in an era of high-throughput sequencing.Human genetics · 2012Review
- Genomewide analysis of inherited variation associated with phosphorylation of PI3K/AKT/mTOR signaling proteins.PloS one · 2011Article
- Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.American journal of human genetics · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
The level of Factor XII (FXII) is an important phenotype that exhibits a high genetic component and is associated with thrombotic disease. In a genome-wide linkage scan, we demonstrated that the F12 gene represents a quantitative trait locus (QTL) that influences FXII levels. The current study investigated the genetic architecture of the F12 gene to locate polymorphism(s) responsible for the variation of FXII levels. Re-sequencing of the F12 gene in 40 unrelated individuals (selected from the tails of normal distribution of FXII levels) identified 26 polymorphisms which were genotyped in 398 individuals belonging to 21 families from the GAIT Project. By a measured genotype association analysis, eight of 26 SNPs showed significant P-values less than 10(-5) (after multiple test correction) with FXII levels. In addition, the Bayesian Quantitative Trait Nucleotide method, which infers those polymorphisms most likely to have a direct influence on the trait under study, provided evidence that only rs1801020 variation accounted for the variance attributed to this QTL. Moreover, we have analyzed the evolutionary processes that produced the variation in F12 gene and concluded that is evolutionarily neutral and that the T allele of the rs1801020 appeared approximately 100 000 years ago and spread to most human populations rising to high frequencies by genetic drift. Our study provides a template for future genetic studies of human quantitative traits, as we move beyond QTL localization to the polymorphisms responsible for the variation of important biomedical phenotypes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.