Yi‐Hsiang Hsu
A5050436237- Genetic Associations and Epidemiology
- Bone health and osteoporosis research
- Bone Metabolism and Diseases
- Nutrition, Genetics, and Disease
- Bipolar Disorder and Treatment
- Folate and B Vitamins Research
- RNA modifications and cancer
- Genomics and Rare Diseases
- Genetic and phenotypic traits in livestock
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Genetic Mapping and Diversity in Plants and Animals
- RNA Research and Splicing
- Single-cell and spatial transcriptomics
- Metabolism, Diabetes, and Cancer
- Epigenetics and DNA Methylation
- MicroRNA in disease regulation
- Bioinformatics and Genomic Networks
- Gut microbiota and health
- Adipose Tissue and Metabolism
- Birth, Development, and Health
- Adipokines, Inflammation, and Metabolic Diseases
- Lipoproteins and Cardiovascular Health
- Liver Disease Diagnosis and Treatment
- Genetics and Physical Performance
National Cheng Kung University Hospital
2025
Harvard University
2015-2024
Hebrew SeniorLife
2015-2024
Digital Science (United States)
2024
Amgen (United States)
2022-2024
Beth Israel Deaconess Medical Center
2013-2024
Broad Institute
2014-2024
Massachusetts Institute of Technology
2017-2024
Quantitative BioSciences
2014-2024
Boston University
2005-2024
The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we provide detailed summary this initiative, including technical and biological validations, insights into disease signatures, prediction modelling for various demographic health indicators. We present comprehensive protein quantitative trait locus (pQTL) mapping 2,923 proteins that identifies 14,287 primary genetic associations,...
Abstract The UK Biobank Pharma Proteomics Project (UKB-PPP) is a collaboration between the (UKB) and thirteen biopharmaceutical companies characterising plasma proteomic profiles of 54,306 UKB participants. Here, we describe results from first phase UKB-PPP, including protein quantitative trait loci (pQTL) mapping 1,463 proteins that identifies 10,248 primary genetic associations, which 85% are newly discovered. We also identify independent secondary associations in 92% cis 29% trans loci,...
The Taiwan Biobank (TWB) is an ongoing prospective study of >150,000 individuals aged 20-70 in Taiwan. A comprehensive list phenotypes was collected for each consented participant at recruitment and follow-up visits through structured interviews physical measurements. Biomarkers genetic data were generated from blood urine samples. We present here overview TWB's quality, population structure, familial relationship, which consists predominantly Han Chinese ancestry, highlight its important...
Osteoporosis is a complex disorder and commonly leads to fractures in elderly persons. Genome-wide association studies (GWAS) have become an unbiased approach identify variations the genome that potentially affect health. However, genetic variants identified so far only explain small proportion of heritability for traits. Due modest effect size inadequate power, true signals may not be revealed based on stringent genome-wide significance threshold. Here, we take advantage SNP transcript...
Abstract Background The association between ischemic stroke and 2 single nucleotide polymorphisms (SNPs) on chromosome 12p13, rs12425791 rs11833579 appears inconsistent across different samples. These SNPs are close to the ninjurin2 gene which may alter risk of by affecting brain response injury. purpose this study was investigate these two risk, as well prognostic outcomes in a Taiwanese sample. Methods We examined relations odds new-onset stroke, subtypes, one year stroke-related death or...
<h3>Importance</h3> Lithium is a first-line mood stabilizer for the treatment of bipolar affective disorder (BPAD). However, efficacy lithium varies widely, with nonresponse rate up to 30%. Biological response markers are lacking. Genetic factors thought mediate lithium, and there previously reported genetic overlap between BPAD schizophrenia (SCZ). <h3>Objectives</h3> To test whether polygenic score SCZ associated in explore potential molecular underpinnings this association. <h3>Design,...
Genome-wide association studies (GWASs) have identified tens of thousands genetic loci associated with human complex traits. However, the majority GWASs were conducted in individuals European ancestries. Failure to capture global diversity has limited genomic discovery and impeded equitable delivery knowledge diverse populations. Here we report findings from 102,900 across 36 quantitative traits Taiwan Biobank (TWB), a major biobank effort that broadens population East Asia. We 968 novel...
ABSTRACT Sarcopenia and osteoporosis are important public health problems that occur concurrently. A bivariate genome-wide association study (GWAS) identified METTL21c as a suggestive pleiotropic gene for both bone muscle. The METTL21 family of proteins methylates chaperones involved in the etiology myopathy inclusion body myositis with Paget's disease. To validate these GWAS results, Mettl21c mRNA expression was reduced siRNA mouse myogenic C2C12 cell line osteocyte-like MLO-Y4. At day 3,...
Genome-wide association studies (GWAS) have identified multiple genetic loci for C-reactive protein (CRP) and lipids, of which some overlap. We aimed to identify pleiotropy among CRP lipids in order better understand the shared biology chronic inflammation lipid metabolism. In a bivariate GWAS, we combined summary statistics published GWAS on (n = 66,185) including LDL-cholesterol, HDL-cholesterol, triglycerides, total cholesterol 100,184), using an empirical weighted linear-combined test...
DNA methylation affects expression of associated genes and may contribute to the missing genetic effects from genome-wide association studies osteoporosis. To improve insight into mechanisms postmenopausal osteoporosis, we combined transcript profiling with analyses in bone. RNA were isolated 84 bone biopsies donors varying markedly mineral density (BMD). In all, 2529 CpGs top 100 most significantly BMD analyzed. The levels at 63 differed between healthy osteoporotic women 10% false...
Skeletal and glycemic traits have shared etiology, but the underlying genetic factors remain largely unknown. To identify loci that may pleiotropic effects, we studied Genome-wide association studies (GWASs) for bone mineral density identified a bivariate risk locus at 3q21. Using sequence epigenetic modeling, prioritized an adenylate cyclase 5 (ADCY5) intronic causal variant, rs56371916. This SNP changes binding affinity of SREBP1 leads to differential ADCY5 gene expression, altering...