[HTML][HTML] Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density
…, E Manduchi, C Su, S Lu, ME Leonard… - Nature …, 2019 - nature.com
Osteoporosis is a devastating disease with an essential genetic component. GWAS have
discovered genetic signals robustly associated with bone mineral density (BMD), but not the …
discovered genetic signals robustly associated with bone mineral density (BMD), but not the …
[HTML][HTML] The type 2 diabetes presumed causal variant within TCF7L2 resides in an element that controls the expression of ACSL5
…, A Chesi, E Manduchi, BT Johnston, S Lu, ME Leonard… - Diabetologia, 2016 - Springer
Aims/hypothesis One of the most strongly associated type 2 diabetes loci reported to date
resides within the TCF7L2 gene. Previous studies point to the T allele of rs7903146 in intron 3 …
resides within the TCF7L2 gene. Previous studies point to the T allele of rs7903146 in intron 3 …
[HTML][HTML] Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells
Systemic lupus erythematosus (SLE) is mediated by autoreactive antibodies that damage
multiple tissues. Genome-wide association studies (GWAS) link >60 loci with SLE risk, but the …
multiple tissues. Genome-wide association studies (GWAS) link >60 loci with SLE risk, but the …
Biological constraints on GWAS SNPs at suggestive significance thresholds reveal additional BMI loci
To uncover novel significant association signals (p<5×10 −8 ), genome-wide association
studies (GWAS) requires increasingly larger sample sizes to overcome statistical correction for …
studies (GWAS) requires increasingly larger sample sizes to overcome statistical correction for …
[HTML][HTML] Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types
…, JA Pippin, E Cruz Cabrera, ME Johnson, ME Leonard… - Genome Biology, 2022 - Springer
Background SARS-CoV-2 infection results in a broad spectrum of COVID-19 disease, from
mild or no symptoms to hospitalization and death. COVID-19 disease severity has been …
mild or no symptoms to hospitalization and death. COVID-19 disease severity has been …
[HTML][HTML] 3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders
…, S Lu, JA Pippin, MC Pahl, ME Leonard… - Progress in …, 2021 - Elsevier
Neurodevelopmental disorders are thought to arise from interrupted development of the
brain at an early age. Genome-wide association studies (GWAS) have identified hundreds of …
brain at an early age. Genome-wide association studies (GWAS) have identified hundreds of …
[PDF][PDF] Genetic and epigenetic fine mapping of complex trait associated loci in the human liver
Deciphering the impact of genetic variation on gene regulation is fundamental to understanding
common, complex human diseases. Although histone modifications are important …
common, complex human diseases. Although histone modifications are important …
[HTML][HTML] Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits
…, KM Hodge, SH Littleton, ME Leonard… - Nature …, 2021 - nature.com
The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine
systems. Given its role governing key traits, such as body weight and reproductive timing, …
systems. Given its role governing key traits, such as body weight and reproductive timing, …
[HTML][HTML] Variant-to-gene-mapping analyses reveal a role for the hypothalamus in genetic susceptibility to inflammatory bowel disease
Background & Aims Inflammatory bowel disease (IBD) is a polygenic disorder characterized
principally by dysregulated inflammation impacting the gastrointestinal tract. However, there …
principally by dysregulated inflammation impacting the gastrointestinal tract. However, there …
[HTML][HTML] Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual
…, L Howe, HJ Kalkwarf, JM Lappe, S Lu, ME Leonard… - Genome Biology, 2021 - Springer
Background Bone accrual impacts lifelong skeletal health, but genetic discovery has been
primarily limited to cross-sectional study designs and hampered by uncertainty about target …
primarily limited to cross-sectional study designs and hampered by uncertainty about target …