rs111228939 - PSMC3 - RAPSN

Magnitude 2.2 · 2 studies on file

Reported associations

• 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

• Genetic Architecture of Trans-Laminar Cribrosa Pressure Difference and Primary Open-Angle Glaucoma - Unknown journal (n.d.) · Unknown authors · PubMed 42017308

  ABSTRACT: Purpose The purpose of this study was to investigate whether the genetic architecture of translaminar cribrosa pressure difference (TLCPD) provides genetic insights based on dual-pressure theory beyond intraocular pressure (IOP) and whether a TLCPD-based polygenic risk score (PRS) predicts primary open-angle glaucoma (POAG) risk and its pleiotropic effects. Methods The genome-wide association study (GWAS) of TLCPD was conducted in 82,147 individuals of European ancestry from the UK Biobank (UKBB). Functional enrichment analysis and colocalization analysis were performed to identify associated genes, tissues, and pathways. PRS was calculated in an independent set of 268,734 unrelated European-ancestry individuals not included in the TLCPD GWAS. A survival analysis was utilized to

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