Expressive

rs116956554 - NSF

Magnitude 2.2 · 5 studies on file

Reported associations

  • Uncovering the shared genetic components of thyroid disorders and reproductive health. - European journal of endocrinology (2024) · Figuerêdo J, Krebs K, Pujol-Gualdo N, Haller T, Võsa U, Volke V, Laisk T, Mägi R · PubMed 39067062

    The aim of the study is to map the shared genetic component and relationships between thyroid and reproductive health traits to improve the understanding of the interplay between those domains. A large-scale genetic analysis of thyroid traits (hyper- and hypothyroidism, and thyroid-stimulating hormone levels) was conducted in up to 743 088 individuals of European ancestry from various cohorts. We evaluated genetic associations using genome-wide association study (GWAS) meta-analysis, GWAS Catalog lookup, gene prioritization, mouse phenotype lookup, and genetic correlation analysis. GWAS meta-analysis results for thyroid phenotypes showed that 50 lead variants out of 253 (including 5/52 of the novel hits) were linked to reproductive health in previous literature. Genetic correlation analyse

  • Regulatory Genomic Circuitry of Brain Age by Integrative Functional Genomic Analyses - Unknown journal (n.d.) · Unknown authors · PubMed 40795387

    ABSTRACT: Abstract Brain age gap (BAG) is a valuable biomarker for evaluating brain healthy status and detecting age-associated cognitive degeneration. However, the genetic architecture of BAG and the underlying mechanisms are poorly understood. Here, we estimated brain age from magnetic resonance imaging with improved accuracy using our proposed adversarial convolution network (ACN), and applied the ACN model to an elderly cohort from the UK Biobank. The genetic heritability of BAG was significantly enriched in regulatory regions and implicated in glial cells. We prioritized a set of BAG-associated genes, and further characterized their expression patterns across brain cell types and regions. Two BAG-associated genes, RUNX2 and KLF3, were found to be associated with epigenetic clock and d

  • Exploiting meta-analysis of genome-wide interaction with serum 25-hydroxyvitamin D to identify novel genetic loci associated with pulmonary function - Unknown journal (n.d.) · Unknown authors · PubMed 38484975

    ABSTRACT: Background Higher 25-hydroxyvitamin D (25(OH)D) concentrations in serum has a positive association with pulmonary function. Investigating genome-wide interactions with 25(OH)D may reveal new biological insights into pulmonary function. Objectives We aimed to identify novel genetic variants associated with pulmonary function by accounting for 25(OH)D interactions. Methods We included 211,264 participants from the observational United Kingdom Biobank study with pulmonary function tests (PFTs), genome-wide genotypes, and 25(OH)D concentrations from 4 ancestral backgrounds-European, African, East Asian, and South Asian. Among PFTs, we focused on forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC) because both were previously associated with 25(OH)D.

  • Genome-wide association study and polygenic risk prediction of hypothyroidism - Unknown journal (n.d.) · Unknown authors · PubMed 41238958

    ABSTRACT: We performed a genome-wide meta-analysis of hypothyroidism (113,393 cases and 1,065,268 controls), free thyroxine (191,449 individuals) and thyroid-stimulating hormone (482,873 individuals). We identified 350 loci associated with hypothyroidism, including 179 not previously reported, 29 of which were linked through thyroid-stimulating hormone. We found that many hypothyroidism risk loci regulate blood cell counts and the circulating inflammasome, and through multiple gene-mapping strategies, we prioritized 259 putative causal genes enriched in immune-related functions. We developed a polygenic risk score (PRS) based on more than 115,000 hypothyroidism cases to address diagnostic challenges in individuals with or at risk of thyroid hormone deficiency. We show that the highest pred

  • GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer - Unknown journal (n.d.) · Unknown authors · PubMed 32769997

    ABSTRACT: Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to 119,715 individuals and identify 74 genome-wide significant loci for TSH, of which 28 are previously unreported. Functional experiments show that the thyroglobulin protein-altering variants P118L and G67S impact thyroglobulin secretion. Phenome-wide association analysis in the UK Biobank demonstrates the pleiotropic effects of TSH-associated variants and a polygenic score for higher TSH levels is associated with a reduced risk of thyroid cancer in the UK Biobank and three other independent studies. Two-sample Mendelian randomization using TSH index variants as inst

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