Expressive

rs11822813 - PANX1

Magnitude 2.0 · 4 studies on file

Reported associations

  • Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk - Nature genetics (2026) · Reeve MP, Kanai M, Graham DB, Karjalainen J, Luo S, Kolosov N, Adams C, Ritari J, Karczewski KJ, Kiiskinen T, Jiang Y, Fuller Z, Mehtonen J, Kurki MI, Khan Z, Partanen J, McCarthy MI, Artomov M, Palotie A, Tuomi T, Pirinen M, Kero J, Xavier RJ, Daly MJ, Ripatti S · PubMed 41748903

    ABSTRACT: The high prevalence (>5%) of autoimmune hypothyroidism (AIHT) provides a unique opportunity to dissect genetic contributions to systemic and organ-specific autoimmunity. Here we performed a genome-wide association meta-analysis of 81,718 AIHT cases in FinnGen and the UK Biobank, identifying 418 independent signals (P < 5 × 10−8). At 48 of these loci, a protein-coding variant is, or is highly correlated (r2 > 0.95) with, the lead variant, including Finnish-enriched coding variants in LAG3, ZAP70 and TG. We demonstrated that ZAP70:T155M reduces T cell activation and broadly compare large-scale scans of nonthyroid autoimmunity and thyroid-stimulating hormone levels with a Bayesian classifier to assign loci into distinct groupings, estimating that 38% are involved in g

  • Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases - Nature genetics (2026) · White SL, Brasher MS, Pattee J, Zhou W, Chapman S, Jee YH, Bell CC, Jamil TL, Barrio M, Arehart CH, Evans LM, Hirbo J, Cox NJ, Straub P, Namba S, Bertucci-Richter E, Guare L, Edris A, Morris S, Mulford AJ, Zhang H, Fennessy B, Tobin MD, Chen J, Williams AT, John C, van Heel DA, Mathur R, Finer S, Moksnes MR, Brumpton BM, Åsvold BO, Peculis R, Rovite V, Konrade I, Wang Y, Crooks K, Chavan S, Fisher MJ, Rafaels N, Lin M, Shortt JA, Sanders AR, Whiteman DC, MacGregor S, Medland SE, Thorsteinsdóttir U, Stefánsson K, Karaderi T, Egan KM, Bocklage T, McCrary HC, Riedlinger G, Salhia B, Shriver C, Phan MD, Farlow JL, Edge S, Kaur V, Churchman ML, Rounbehler RJ, Brock PL, Ringel MD, Pividori M, Schweppe R, Raeburn CD, Walters RG, Chen Z, Li L, Matsuda K, Okada Y, Zöllner S, Verma A, Preuss MH, Kenny E, Hendricks AE, Fishbein L, Kraft P, Daly MJ, Neale BM, Martin AR, Cole JB, Haugen BR, Gignoux CR, Pozdeyev N · PubMed 41644669

    ABSTRACT: Thyroid diseases are common and highly heritable. We performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer (ThC), benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism. We analyzed genetic association data from ~2.9 million genomes and identified 313 known and 570 new independent loci linked to thyroid diseases. We discovered genetic correlations between ThC, benign nodular goiter and autoimmune thyroid diseases (rg = 0.16-0.97). Telomere maintenance genes contributed to benign and malignant thyroid nodular disease risk, whereas cell cycle, DNA repair and damage response genes were associated with ThC. We propose a paradigm that explains genetic predisposition to benign

  • 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

  • Leveraging Polygenic Functional Enrichment to Improve GWAS Power. - American journal of human genetics (2019) · Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL · PubMed 30595370

    Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyses. We show via simulations with real genotypes that the method, functionally informed novel discovery of risk loci (FINDOR), correctly controls the false-positive rate at null loci and attains a 9%-38% increase in the number of independent associations detected at causal loci, depending on trait polygenicity and sample size. We applied FINDOR to 27 independent complex traits and diseases from the interim UK Biobank release (average N = 130K). Averaged across traits, we attaine

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