rs1058900 - IFITM2

Magnitude 2.2 · 6 studies on file

Reported associations

• FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease. - Nature (2020) · Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K · PubMed 32581359

  Autoimmune thyroid disease is the most common autoimmune disease and is highly heritable . Here, by using a genome-wide association study of 30,234 cases and 725,172 controls from Iceland and the UK Biobank, we find 99 sequence variants at 93 loci, of which 84 variants are previously unreported . A low-frequency (1.36%) intronic variant in FLT3 (rs76428106-C) has the largest effect on risk of autoimmune thyroid disease (odds ratio (OR) = 1.46, P = 2.37 × 10 ). rs76428106-C is also associated with systemic lupus erythematosus (OR = 1.90, P = 6.46 × 10 ), rheumatoid factor and/or anti-CCP-positive rheumatoid arthritis (OR = 1.41, P = 4.31 × 10 ) and coeliac disease (OR = 1.62, P = 1.20 × 10 ). FLT3 encodes fms-related tyrosine kinase 3, a receptor that regulat

• 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

• Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk - Unknown journal (n.d.) · Unknown authors · 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

• 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%

• Amplitudes of resting-state functional networks - investigation into their correlates and biophysical properties - Unknown journal (n.d.) · Unknown authors · PubMed 36462729

  ABSTRACT: Highlights Variability in amplitude of resting-state networks (RSNs) was assessed across 37,842 subjects. Network amplitudes are closely linked to functional connectivity between RSNs. Temporal synchrony between brain regions is a key factor determining RSN amplitudes. Sex effects on temporal synchrony differ between sensory and cognitive RSNs. Genetic variants associated with RSN amplitudes overlap with those associated with synchrony. Resting-state fMRI studies have shown that multiple functional networks, which consist of distributed brain regions that share synchronised spontaneous activity, co-exist in the brain. As these resting-state networks (RSNs) have been thought to reflect the brain's intrinsic functional organization, intersubject variability in the networks' spont

• The Polygenic and Monogenic Basis of Blood Traits and Diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32888494

  ABSTRACT: Summary Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering v

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