Expressive

rs11166276 - LINC01708

Magnitude 2.2 · 3 studies on file

Reported associations

  • Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve. - Circulation (2026) · Thériault S, Holdcraft JA, Sharipova D, Faucherre A, Debiec RM, Peloso GM, Al-Kassou B, Aranki S, Ashikhmina Swan E, Ballotta A, Bellino M, Björck HM, Boureau AS, Braund PS, Corriveau F, Dagenais F, Folkersen L, Forte A, Francke MD, Frigiola A, Gorbatov S, Guo D, Habchi KM, Heydarpour M, Isselbacher EM, Jopling C, Laporte F, Le Scouarnec S, Li Z, Lichtner P, Maj C, Manikpurage HD, Nelson CP, Nguyen TB, Norris RA, Ong CS, Pibarot P, Roychowdhury T, Sarubbi B, Simonet F, Sundt T, Surakka I, Tessler I, Willer CJ, Wittmann S, Yang B, Berezovets I, Doppler SA, Dreßen M, Knoll K, Puehler T, Schunkert H, Avierinos JF, Bissell MM, Bolger AP, Bossé Y, Bossone E, Brion M, Citro R, de Vincentiis C, Deeb GM, Della Corte A, Dina C, Durst R, Ensminger S, Eriksson P, Evangelista A, Franco-Cereceda A, Gilon D, Giusti B, Hetherington SL, Huggins GS, Krane M, Le Tourneau T, Limongelli G, Mathieu P, Messika-Zeitoun D, Michelena HI, Milewicz D, Muehlschlegel JD, Murdock DR, Nickenig G, Nistri S, Nöthen MM, Pluchinotta F, Prakash SK, Samani NJ, Schott JJ, Webb TR, Zaffran S, Abdelilah-Seyfried S, Eagle K, Schumacher J, Trenkwalder T, Body SC · PubMed 41645906

    Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Despite this, only a limited number of genes have been associated with the disease, and the molecular mechanisms remain unexplained in most cases. This study aimed to further understand the genetic architecture of BAV. A genome-wide association study meta-analysis including 9631 cases among 65 677 participants was performed. Genes were prioritized using transcriptomic analyses based on RNA sequencing in relevant tissues, including human fetal and adult aortic valves. The impact of the knockdown or knockout of 4 candidate genes on cardiac development was verified in zebrafish. A polygenic risk score was developed, its association with BAV was evaluated in an independent cohort, and its association

  • Multi-Ancestry Genome Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 36802703

    ABSTRACT: Background: Calcific aortic stenosis (CAS) is the most common valvular heart disease in older adults and has no effective preventive therapies. Genome-wide association studies (GWAS) can identify genes influencing disease and may help prioritize therapeutic targets for CAS. Methods: We performed a GWAS and gene association study of 14,451 CAS cases and 398,544 controls in the Million Veteran Program (MVP). Replication was performed in MVP, Penn Medicine Biobank, Mass General Brigham Biobank, BioVU, and BioMe, totaling 12,889 cases and 348,094 controls. Causal genes were prioritized from genome-wide significant (GWS) variants using Polygenic Priority Score gene localization, expression quantitative trait locus colocalization, and nearest gene methods. CAS genetic architecture was

  • Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk - Unknown journal (n.d.) · Unknown authors · PubMed 41419685

    ABSTRACT: The genetic influences on normal aortic valve function and their impact on aortic stenosis risk are of substantial interest. We used deep learning to measure peak velocity, mean gradient and aortic valve area from magnetic resonance imaging and conducted genome-wide association studies (GWAS) in 59,571 participants in the UK Biobank. Incorporating the aortic valve measurement GWAS with aortic stenosis GWAS using multitrait analysis of GWAS (MTAG), we identified 166 distinct loci (134 with aortic valve traits, 134 with aortic stenosis and 166 unique loci across all GWAS), including PCSK9 and LDLR. The MTAG aortic stenosis PGS was associated with aortic stenosis in All of Us (hazard ratio (HR) = 3.32 for top 5% versus all others, P = 8.8 × 10−22) and Mass General Bri

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.