Genetic Association Analyses Highlight IL6 , ALPL , and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis

Name: Work Video:
Duration: 3 min 30 s
Sébastien Thériault; Christian Dina; David Messika‐Zeitoun; Solena Le Scouarnec; Romain Capoulade; Nathalie Gaudreault; Sidwell Rigade; Zhonglin Li; Floriane Simonet; Maxime Lamontagne; Marie‐Annick Clavel; Benoît J. Arsenault; Anne‐Sophie Boureau; Simon Lecointe; Estelle Baron; Stéphanie Bonnaud; Matilde Karakachoff; Éric Charpentier; Imen Fellah; Jean‐Christian Roussel; Jean Philippe Verhoye; Christophe Baufreton; Vincent Probst; Ronan Roussel; Richard Redon; François Dagenais; Philippe Pîbarot; Patrick Mathieu; Thierry Le Tourneau; Yohan Bossé; Jean‐Jacques Schott; B. Balkau; Pierre Ducimetière; Eveline Eschwège; François Alhenc-Gélas; A Girault; Frédéric Fumeron; Michel Marre; Fabrice Bonnet; Amélie Bonnefond; Philippe Froguel; Fanny Rancière; Joël Cogneau; C. Born; E Cacès; M. Cailleau; Olivier Lantieri; J.G. Moreau; F Rakotozafy; Jean Tichet; Sylviane Vol
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73], 'meta-analysis': [53], 'of': [54, 64, 87, 168, 193, 235, 255, 295], '4': [55, 115], 'cohorts,': [56], 'totaling': [57], '5115': [58], 'cases': [59], '354': [61], '072': [62], 'controls': [63], 'European': [65], 'descent,': [66], 'was': [67, 74], 'performed.': [68], 'TWAS': [70, 136], '(transcriptome-wide': [71], 'completed': [75], 'integrate': [77], 'transcriptomic': [78], 'data': [79], 'from': [80, 140], '233': [81, 141], 'human': [82, 142], 'valves.': [84], 'series': [86], 'post-GWAS': [88], 'analyses': [89, 203], 'were': [90, 162], 'performed,': [91], 'including': [92, 120], 'fine-mapping,': [93], 'colocalization,': [94], 'phenome-wide': [95], 'studies,': [97], 'pathway,': [98], 'tissue': [100], 'enrichment': [101], 'well': [103], 'genetic': [105, 266, 283], 'correlation': [106, 267], 'with': [107, 164, 190, 248], 'traits.': [109], 'Results:': [110], 'In': [111], 'the': [112, 177, 183, 191, 194, 205, 212, 216, 236, 243, 262, 293], 'meta-analysis,': [114], 'loci': [116, 284], 'achieved': [117], 'genome-wide': [118, 263], 'significance,': [119], 'new': [122, 154, 282], 'loci:': [123], 'IL6': [124, 184, 195, 217, 237], '(interleukin': [125], '6)': [126], 'on': [127, 133, 150], '7p15.3': [128], 'ALPL': [130], '(alkaline': [131], 'phosphatase)': [132], '1p36.12.': [134], 'integrating': [137], 'gene': [138], 'expression': [139, 167, 192], 'valves': [144], 'NAV1': [146, 169, 244], '(neuron': [147], 'navigator': [148], '1)': [149], '1q32.1': [151], 'candidate': [155], 'gene.': [157], 'The': [158, 186, 239], 'CAVS': [159, 286], 'risk': [160, 213, 240, 275], 'alleles': [161], 'associated': [163], 'higher': [165, 221, 249, 253], 'mRNA': [166], 'in': [170, 182, 198, 204, 285], 'tissues.': [172, 200], 'Fine-mapping': [173], 'rs1800795': [175], 'most': [178], 'likely': [179], 'variant': [181, 219, 246], 'locus.': [185], 'signal': [187], 'colocalizes': [189], 'RNA': [196], 'antisense': [197], 'various': [199], 'Phenome-wide': [201], 'UK': [206], 'Biobank': [207], 'showed': [208], 'colocalized': [209, 247], 'associations': [210], 'between': [211, 268], 'allele': [214, 241], 'at': [215, 242, 261], 'lead': [218, 245], 'eosinophil': [222], 'count,': [223], 'pulse': [224, 250], 'pressure,': [225, 228], 'systolic': [226], 'blood': [227], 'carotid': [230, 256], 'artery': [231, 257, 271], 'procedures,': [232], 'implicating': [233], 'modulation': [234], 'pathways.': [238], 'pressure': [251], 'prevalence': [254], 'stenosis.': [258], 'Association': [259], 'results': [260], 'scale': [264], 'indicated': [265], 'CAVS,': [269], 'coronary': [270], 'disease,': [272], 'factors.': [276], 'Conclusions:': [277], 'Our': [278], 'study': [279], 'implicates': [280], '3': [281], 'pathogenesis,': [287], 'constitute': [289], 'novel': [290], 'targets': [291], 'development': [294], 'therapeutic': [296], 'agents.': [297]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2980964793', 'counts_by_year': [{'year': 2024, 'cited_by_count': 14}, {'year': 2023, 'cited_by_count': 16}, {'year': 2022, 'cited_by_count': 10}, {'year': 2021, 'cited_by_count': 12}, {'year': 2020, 'cited_by_count': 6}, {'year': 2019, 'cited_by_count': 1}], 'updated_date': '2024-12-28T22:23:31.654946', 'created_date': '2019-10-25'}
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