Expressive

rs117988169 - HVCN1

Magnitude 2.2 · 5 studies on file

Reported associations

  • Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes - Unknown journal (n.d.) · Unknown authors · PubMed 36329257

    ABSTRACT: To explore the complex genetic architecture of common diseases and traits, we conducted comprehensive PheWAS of ten diseases and 34 quantitative traits in the community-based Taiwan Biobank (TWB). We identified 995 significantly associated loci with 135 novel loci specific to Taiwanese population. Further analyses highlighted the genetic pleiotropy of loci related to complex disease and associated quantitative traits. Extensive analysis on glycaemic phenotypes (T2D, fasting glucose and HbA1c) was performed and identified 115 significant loci with four novel genetic variants (HACL1, RAD21, ASH1L and GAK). Transcriptomics data also strengthen the relevancy of the findings to metabolic disorders, thus contributing to better understanding of pathogenesis. In addition, genetic risk sc

  • Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia∗ - Unknown journal (n.d.) · Unknown authors · PubMed 38064665

    ABSTRACT: Key Points PEAR1 and CBL variants demonstrate time-specific genetic influences on platelet count throughout the course of pregnancy. PEAR1 and TUBB1 variants play a major role in contributing to the genetic predisposition for GT and severe GT. Visual Abstract Abstract Platelet count reduction occurs throughout pregnancy, with 5% to 12% of pregnant women being diagnosed with gestational thrombocytopenia (GT), characterized by a more marked decrease in platelet count during pregnancy. However, the underlying biological mechanism behind these phenomena remains unclear. Here, we used sequencing data from noninvasive prenatal testing of 100 186 Chinese pregnant individuals and conducted, to our knowledge, the hitherto largest-scale genome-wide association studies on platelet counts

  • Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population - Unknown journal (n.d.) · Unknown authors · PubMed 40465716

    ABSTRACT: We addressed the underrepresentation of non-European populations in genome-wide association studies (GWASs) by building HiGenome, a large-scale genetic resource for the Taiwanese Han population. Using a custom genotyping array, we integrated deidentified electronic medical records (2003 to 2021) with genomic data to enable GWASs, phenome-wide association studies, and polygenic risk score (PRS) analysis. Among 413,000 participants, 323,397 passed ancestry and quality control filtering. GWASs covered 1085 traits, focusing on diseases prevalent in Taiwan such as type 2 diabetes, chronic kidney disease, gout, and alcoholic liver damage. PRSs were calculated for 238 traits, with the strongest associations observed in musculoskeletal disorders. Incorporating PRS into clinical practice

  • Your height affects your health: genetic determinants and health-related outcomes in Taiwan - Unknown journal (n.d.) · Unknown authors · PubMed 35831902

    ABSTRACT: Background Height is an important anthropometric measurement and is associated with many health-related outcomes. Genome-wide association studies (GWASs) have identified hundreds of genetic loci associated with height, mainly in individuals of European ancestry. Methods We performed genome-wide association analyses and replicated previously reported GWAS-determined single nucleotide polymorphisms (SNPs) in the Taiwanese Han population (Taiwan Biobank; n = 67,452). A genetic instrument composed of 251 SNPs was selected from our GWAS, based on height and replication results as the best-fit polygenic risk score (PRS), in accordance with the clumping and p-value threshold method. We also examined the association between genetically determined height (PRS251) and measured height (phen

  • Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study - Unknown journal (n.d.) · Unknown authors · PubMed 41824406

    ABSTRACT: Both genetic and environmental factors affect human stature, including overall height and familial short stature (FSS), and it is associated with various health outcomes. However, the study of genetic connections between stature and health conditions remains lacking in East Asian populations. Hence, we conducted parallel genome-wide association studies (GWAS) of body height and FSS in the Han Taiwanese population, aiming to elucidate the genetic influences of stature on health and facilitate the formulation of precision-health strategies. We analyzed large-scale GWAS data on adult height (120,301 Han Taiwanese) and FSS (FSS; 2,050 cases, 27,966 controls) to examine cross-trait genetic correlations across five East Asian biobanks, and applied phenome-wide association studies (PheW

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