ArticleEuropean journal of human genetics : EJHG2019
Haploinsufficiency of ARHGAP42 is associated with hypertension.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- The RNA-binding protein CELF4: from molecular regulatory networks to clinical translation in cross-system diseases.Frontiers in molecular biosciences · 2026Review
- Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report.Balkan journal of medical genetics : BJMG · 2024Article
- Inflammaging and Brain Aging.International journal of molecular sciences · 2024Review
- Deep learning-derived splenic radiomics, genomics, and coronary artery disease.medRxiv : the preprint server for health sciences · 2024Article
- Deciphering the causal relationship between blood pressure and regional white matter integrity: A two-sample Mendelian randomization study.Journal of neuroscience research · 2023Article
- The Brain and Spinal Microvasculature in Normal Aging.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023Review
- Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.Frontiers in genetics · 2023Article
- A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.PLoS genetics · 2021Article
- Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases.International journal of molecular sciences · 2021Review
- Healthy aging and the blood-brain barrier.Nature aging · 2021Review
- Molecular Regulation of the RhoGAP GRAF3 and Its Capacity to Limit Blood Pressure In Vivo.Cells · 2020Article
- Targeted next-generation sequencing identifies the disruption of theMolecular cytogenetics · 2020Article
- Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated.Human molecular genetics · 2019Review
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Family studies have established that the heritability of blood pressure is significant and genome-wide association studies (GWAS) have identified numerous susceptibility loci, including one within the non-coding part of Rho GTPase-activating protein 42 gene (ARHGAP42) on chromosome 11q22.1. Arhgap42-deficient mice have significantly elevated blood pressure, but the phenotypic effects of human variants in the coding part of the gene are unknown. In a Danish cohort of carriers with apparently balanced chromosomal rearrangements, we identified a family where a reciprocal translocation t(11;18)(q22.1;q12.2) segregated with hypertension and obesity. Clinical re-examination revealed that four carriers (age 50-77 years) have had hypertension for several years along with an increased body mass index (34-43 kg/m
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