ArticlePLoS genetics2017
Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Variance-component-based meta-analysis of gene-environment interactions for rare variants.G3 (Bethesda, Md.) · 2021Pooled it
- A unified method for rare variant analysis of gene-environment interactions.Statistics in medicine · 2020Pooled it
- Novel Metabolites Genetically Linked to Salt Sensitivity of Blood Pressure: Evidence from mGWAS in Chinese Population.International journal of molecular sciences · 2025Article
- Aberrant splicing of CaCellular and molecular life sciences : CMLS · 2024Article
- Perinatal Lead Exposure Promotes Sex-Specific Epigenetic Programming of Disease-Relevant Pathways in Mouse Heart.Toxics · 2023Article
- Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea.American journal of respiratory and critical care medicine · 2022Article
- Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.PLoS genetics · 2022Article
- Rare coding variants in RCN3 are associated with blood pressure.BMC genomics · 2022Article
- Arterial Hypertension: Individual Therapeutic Approaches-From DNA Sequencing to Gender Differentiation and New Therapeutic Targets.Pharmaceutics · 2021Review
- Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level.American journal of human genetics · 2019Article
- Identifying Rare Variant Associations in Admixed Populations.Scientific reports · 2019Article
- Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.Human genetics · 2019Article
- Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31.European journal of human genetics : EJHG · 2019Article
- Article
- Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.Scientific reports · 2018Article
- Advances in the Genetics of Hypertension: The Effect of Rare Variants.International journal of molecular sciences · 2018Review
- Microarray Analysis Reveals a Potential Role of lncRNA Expression in 3,4-Benzopyrene/Angiotensin II-Activated Macrophage in Abdominal Aortic Aneurysm.Stem cells international · 2017Article
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 1 country.
Funding
Abstract
Many large genome-wide association studies (GWAS) have identified common blood pressure (BP) variants. However, most of the identified BP variants do not overlap with the linkage evidence observed from family studies. We thus hypothesize that multiple rare variants contribute to the observed linkage evidence. We performed linkage analysis using 517 individuals in 130 European families from the Cleveland Family Study (CFS) who have been genotyped on the Illumina OmniExpress Exome array. The largest linkage peak was observed on chromosome 16p13 (MLOD = 2.81) for systolic blood pressure (SBP). Follow-up conditional linkage and association analyses in the linkage region identified multiple rare, coding variants in RBFOX1 associated with reduced SBP. In a 17-member CFS family, carriers of the missense variant rs149974858 are normotensive despite being obese (average BMI = 60 kg/m2). Gene-based association test of rare variants using SKAT-O showed significant association with SBP (p-value = 0.00403) and DBP (p-value = 0.0258) in the CFS participants and the association was replicated in large independent replication studies (N = 57,234, p-value = 0.013 for SBP, 0.0023 for PP). RBFOX1 is expressed in brain tissues, the atrial appendage and left ventricle in the heart, and in skeletal muscle tissues, organs/tissues which are potentially related to blood pressure. Our study showed that associations of rare variants could be efficiently detected using family information.
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