rs11852134 - LTBP2 - AREL1

Magnitude 2.2 · 2 studies on file

Reported associations

• Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse. - European heart journal (2022) · Roselli C, Yu M, Nauffal V, Georges A, Yang Q, Love K, Weng LC, Delling FN, Maurya SR, Schrölkamp M, Tfelt-Hansen J, Hagège A, Jeunemaitre X, Debette S, Amouyel P, Guan W, Muehlschlegel JD, Body SC, Shah S, Samad Z, Kyryachenko S, Haynes C, Rienstra M, Le Tourneau T, Probst V, Roussel R, Wijdh-Den Hamer IJ, Siland JE, Knowlton KU, Jacques Schott J, Levine RA, Benjamin EJ, Vasan RS, Horne BD, Muhlestein JB, Benfari G, Enriquez-Sarano M, Natale A, Mohanty S, Trivedi C, Shoemaker MB, Yoneda ZT, Wells QS, Baker MT, Farber-Eger E, Michelena HI, Lundby A, Norris RA, Slaugenhaupt SA, Dina C, Lubitz SA, Bouatia-Naji N, Ellinor PT, Milan DJ · PubMed 35245370

  Mitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high incidence, there is a limited understanding of the molecular mechanism of this disease, and no medical therapy is available for this disease. We aimed to elucidate the genetic basis of MVP in order to better understand this complex disorder. We performed a meta-analysis of six genome-wide association studies that included 4884 cases and 434 649 controls. We identified 14 loci associated with MVP in our primary analysis and 2 additional loci associated with a subset of the samples that additionally underwent mitral valve surgery. Integration of epigenetic, transcriptional, and proteomic data identified candidate MVP genes including LMCD1, SPTBN1, LTBP2,

• A cross-population atlas of genetic associations for 220 human phenotypes. - Nature genetics (2021) · Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y · PubMed 34594039

  Current genome-wide association studies do not yet capture sufficient diversity in populations and scope of phenotypes. To expand an atlas of genetic associations in non-European populations, we conducted 220 deep-phenotype genome-wide association studies (diseases, biomarkers and medication usage) in BioBank Japan (n = 179,000), by incorporating past medical history and text-mining of electronic medical records. Meta-analyses with the UK Biobank and FinnGen (n = 628,000) identified ~5,000 new loci, which improved the resolution of the genomic map of human traits. This atlas elucidated the landscape of pleiotropy as represented by the major histocompatibility complex locus, where we conducted HLA fine-mapping. Finally, we performed statistical decomposition of matrices of phenome-wid

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