Expressive

rs12188300 - IL12B-AS1

Magnitude 4.5 · 7 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

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

  • A scalable variational inference approach for increased mixed-model association power - Unknown journal (n.d.) · Unknown authors · PubMed 39789286

    ABSTRACT: The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration. We applied Quickdraws to 79 quantitative and 50 binary traits in 405,088 UK Biobank samples, identifying 4.97% and 3.25% more associations than REGENIE and 22.71%

  • Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci - Unknown journal (n.d.) · Unknown authors · PubMed 26974007

    ABSTRACT: We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European-ancestry we identified 244 independent multi-disease signals including 27 novel genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multi-disease signals with expression data sets from human, rat and mouse, and epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subg

  • Identification of fifteen new psoriasis susceptibility loci highlights the role of innate immunity - Unknown journal (n.d.) · Unknown authors · PubMed 23143594

    ABSTRACT: Summary To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of three genome-wide association studies (GWAS) and two independent datasets genotyped on the Immunochip, involving 10,588 cases and 22,806 controls in total. We identified 15 new disease susceptibility regions, increasing the number of psoriasis-associated loci to 36 for Caucasians. Conditional analyses identified five independent signals within previously known loci. The newly identified shared disease regions encompassed a number of genes whose products regulate T-cell function (e.g. RUNX3, TAGAP and STAT3). The new psoriasis-specific regions were notable for candidate genes whose products are involved in innate host defense, encoding proteins with roles in interferon-media

  • Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis - Unknown journal (n.d.) · Unknown authors · PubMed 20953186

    [INTRO] Psoriatic arthritis (PsA) is an inflammatory joint disease distinct from other chronic arthritides and frequently accompanied by psoriasis vulgaris (PsV) and seronegativity for rheumatoid factor. In a SNP array based genome wide association study (GWAS) of a German case/control collective, we confirmed HLA-C and IL12B as PsA susceptibility genes and found and replicated association to intragenic variants of TRAF3IP2 in various European study groups (1.39×10−12 > p > 8.56×10−17). These SNPs were also associated in a German psoriasis vulgaris cohort. Sequencing revealed coding variant p.D10N (rs33980500) as strongly associated (p = 1.13×10−20, OR = 1.95) and the only variant present on all risk haplotypes. Association with PsV was weaker (p = 1.35×10−4), although we are c

  • Causal relationship and shared genetic loci between psoriasis and type 2 diabetes through trans-disease meta-analysis - Unknown journal (n.d.) · Unknown authors · PubMed 33385400

    ABSTRACT: Psoriasis and type 2 diabetes (T2D) are complex conditions with significant impact on health. Psoriasis patients have higher risk of type 2 diabetes (~1.5 Odds Ratio) and vice versa, controlling for body mass index (BMI), yet there has been limited study comparing their genetic architecture. We hypothesized there are shared genetic components between psoriasis and T2D. Trans-disease meta-analysis (TDMA) was applied to 8,016,731 well-imputed genetic markers from large-scale meta-analyses of psoriasis (11,024 cases and 16,336 controls) and T2D adjusted for BMI (74,124 cases and 824,006 controls). We confirmed our findings in a hospital-based study (42,112 patients) and tested for causal relationships with multi-variable Mendelian randomization. Mendelian randomization identified a

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