HOCOMOCO in 2024: a rebuild of the curated collection of binding models for human and mouse transcription factors

IE Vorontsov, IA Eliseeva, A Zinkevich… - Nucleic Acids …, 2024 - academic.oup.com
We present a major update of the HOCOMOCO collection that provides DNA binding
specificity patterns of 949 human transcription factors and 720 mouse orthologs. To make …

[HTML][HTML] Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms

J Guo, K Walter, PM Quiros, M Gu, EJ Baxter… - Nature Genetics, 2024 - nature.com
Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction
of mature blood cells. Their causative somatic mutations, for example, JAK2 V617F, are …

Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects

S Kasela, F Aguet, S Kim-Hellmuth, BC Brown… - The American Journal of …, 2024 - cell.com
Bulk-tissue molecular quantitative trait loci (QTLs) have been the starting point for
interpreting disease-associated variants, and context-specific QTLs show particular …

Single nucleotide polymorphisms in the cannabinoid CB2 receptor: Molecular pharmacology and disease associations

T Foyzun, M Whiting, KK Velasco… - British Journal of …, 2024 - Wiley Online Library
Preclinical evidence implicating cannabinoid receptor 2 (CB2) in various diseases has led
researchers to question whether CB2 genetics influence aetiology or progression …

[HTML][HTML] A two-sample Mendelian randomization study explores metabolic profiling of different glycemic traits

THT Wong, JMY Mo, M Zhou, JV Zhao… - Communications …, 2024 - nature.com
We assessed the causal relation of four glycemic traits and type 2 diabetes liability with 167
metabolites using Mendelian randomization with various sensitivity analyses and a reverse …

[HTML][HTML] Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases

M Homilius, W Zhu, SS Eddy, PC Thompson… - Nature Genetics, 2024 - nature.com
Although genome-wide association studies (GWAS) have successfully linked genetic risk
loci to various disorders, identifying underlying cellular biological mechanisms remains …

[HTML][HTML] Genetic associations between circulating immune cells and periodontitis highlight the prospect of systemic immunoregulation in periodontal care

X Ye, Y Bai, M Li, Y Ye, Y Chen, B Liu, Y Dai, S Wang… - Elife, 2024 - elifesciences.org
Periodontitis drives irreversible destruction of periodontal tissue and is prone to
exacerbating inflammatory disorders. Systemic immunomodulatory management continues …

[HTML][HTML] Epidemiologic and genetic associations of female reproductive disorders with depression or dysthymia: a Mendelian randomization study

S Ling, Y Dai, R Weng, Y Li, W Wu, Z Zhou, Z Zhong… - Scientific Reports, 2024 - nature.com
Observational studies have previously reported an association between depression and
certain female reproductive disorders. However, the causal relationships between …

[HTML][HTML] Effect of the gut microbiome, plasma metabolome, peripheral cells, and inflammatory cytokines on obesity: a bidirectional two-sample Mendelian …

Y Li, X Wang, Z Zhang, L Shi, L Cheng… - Frontiers in …, 2024 - frontiersin.org
Background Obesity is a metabolic and chronic inflammatory disease involving genetic and
environmental factors. This study aimed to investigate the causal relationship among gut …

[HTML][HTML] Rare copy number variation in autoimmune Addison's disease

H Artaza, D Eriksson, K Lavrichenko… - Frontiers in …, 2024 - frontiersin.org
Autoimmune Addison's disease (AAD) is a rare but life-threatening endocrine disorder
caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide …