ArticleHuman mutation2011
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.
Article in Human mutation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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, 26 citations in OpenAlex.
- DNA hypomethylation, ambient particulate matter, and increased blood pressure: findings from controlled human exposure experiments.Journal of the American Heart Association · 2013Trial
- Genetic Variants in the MTHFR and WNK1 Genes and Their Contribution to Hypertension Susceptibility.International journal of medical sciences · 2026Article
- Regulatory control of the Na-Cl co-transporter NCC and its therapeutic potential for hypertension.Acta pharmaceutica Sinica. B · 2021Review
- WNK-SPAK/OSR1-NCC kinase signaling pathway as a novel target for the treatment of salt-sensitive hypertension.Acta pharmacologica Sinica · 2021Review
- AluMine: alignment-free method for the discovery of polymorphic Alu element insertions.Mobile DNA · 2019Article
- Mechanisms and controversies in mutant Cul3-mediated familial hyperkalemic hypertension.American journal of physiology. Renal physiology · 2018Review
- The CUL3/KLHL3-WNK-SPAK/OSR1 pathway as a target for antihypertensive therapy.American journal of physiology. Renal physiology · 2016Article
- Does Renal Denervation Fit All Resistant Hypertension? The Role of Genetics.Journal of clinical hypertension (Greenwich, Conn.) · 2016Article
- Identification of Alternative Variants and Insertion of the Novel PolymorphicInternational journal of genomics · 2016Article
- Lack of family-based association between common variations in WNK1 and blood pressure level.Medical science monitor : international medical journal of experimental and clinical research · 2014Article
- Comprehensive assessment of the association of WNK4 polymorphisms with hypertension: evidence from a meta-analysis.Scientific reports · 2014Article
- Linear decay of retrotransposon antisense bias across genes is contingent upon tissue specificity.PloS one · 2013Article
- Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.Current hypertension reports · 2012Review
- Beyond genome-wide association studies: new strategies for identifying genetic determinants of hypertension.Current hypertension reports · 2011Review
- HYPEST study: profile of hypertensive patients in Estonia.BMC cardiovascular disorders · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 5 countries.
Funding
Abstract
Mutations in WNK1 and WNK4 cause familial hypertension, the Gordon syndrome. WNK1 and WNK4 conserved noncoding regions were targeted to polymorphism screening using DHPLC and DGGE. The scan identified an undescribed polymorphic AluYb8 insertion in WNK1 intron 10. Screening in primates revealed that this Alu-insertion has probably occurred in human lineage. Genotyping in 18 populations from Europe, Asia, and Africa (n = 854) indicated an expansion of the WNK1 AluYb8 bearing chromosomes out of Africa. The allele frequency in Sub-Saharan Africa was ~3.3 times lower than in other populations (4.8 vs. 15.8%; P = 9.7 × 10(-9) ). Meta-analysis across three European sample sets (n = 3,494; HYPEST, Estonians; BRIGHT, the British; CADCZ, Czech) detected significant association of the WNK1 AluYb8 insertion with blood pressure (BP; systolic BP, P = 4.03 × 10(-3) , effect 1.12; diastolic BP, P = 1.21 × 10(-2) , effect 0.67). Gender-stratified analysis revealed that this effect might be female-specific (n = 2,088; SBP, P = 1.99 × 10(-3) , effect 1.59; DBP P = 3.64 × 10(-4) , effect 1.23; resistant to Bonferroni correction), whereas no statistical support was identified for the association with male BP (n = 1,406). In leucocytes, the expressional proportions of the full-length WNK1 transcript and the splice-form skipping exon 11 were significantly shifted in AluYb8 carriers compared to noncarriers. The WNK1 AluYb8 insertion might affect human BP via altering the profile of alternatively spliced transcripts.
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.