Mono-and biallelic variant effects on disease at biobank scale
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …
medical genetics. Population bottleneck events, such as those that occurred in the history of …
Telomere length and development of systemic lupus erythematosus: a Mendelian randomization study
XF Wang, WJ Xu, FF Wang, R Leng… - Arthritis & …, 2022 - Wiley Online Library
Objective Previous observational studies demonstrated that a subset of patients with
systemic lupus erythematosus (SLE) have markedly short telomere length in leukocytes …
systemic lupus erythematosus (SLE) have markedly short telomere length in leukocytes …
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting
0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus …
0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus …
Animal-SNPAtlas: a comprehensive SNP database for multiple animals
Y Gao, G Jiang, W Yang, W Jin, J Gong… - Nucleic Acids …, 2023 - academic.oup.com
Single-nucleotide polymorphisms (SNPs) as the most important type of genetic variation are
widely used in describing population characteristics and play vital roles in animal genetics …
widely used in describing population characteristics and play vital roles in animal genetics …
Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data
Background Expression quantitative trait loci (eQTL) studies show how genetic variants
affect downstream gene expression. Single-cell data allows reconstruction of personalized …
affect downstream gene expression. Single-cell data allows reconstruction of personalized …
Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions
Here, in a multi-ancestry genome-wide association study meta-analysis of kidney cancer
(29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) …
(29,020 cases and 835,670 controls), we identified 63 susceptibility regions (50 novel) …
Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions
Background The shared inherited genetic contribution to risk of different cancers is not fully
known. In this study, we leverage results from 12 cancer genome-wide association studies …
known. In this study, we leverage results from 12 cancer genome-wide association studies …
Integrative Mendelian randomization reveals the soluble receptor for advanced glycation end products as protective in relation to rheumatoid arthritis
Rheumatoid arthritis (RA) is a risk factor for atherosclerotic cardiovascular diseases (CVD).
Given the critical roles of the immune system and inflammatory signals in the pathogenesis …
Given the critical roles of the immune system and inflammatory signals in the pathogenesis …
Common host variation drives malaria parasite fitness in healthy human red cells
The replication of Plasmodium falciparum parasites within red blood cells (RBCs) causes
severe disease in humans, especially in Africa. Deleterious alleles like hemoglobin S are …
severe disease in humans, especially in Africa. Deleterious alleles like hemoglobin S are …
The causal relationship of human blood metabolites with the components of Sarcopenia: a two-sample Mendelian randomization analysis
W Peng, Z Xia, Y Guo, L Li, J He, Y Su - BMC geriatrics, 2024 - Springer
Background Sarcopenia is a progressive loss of muscle mass and function. Since skeletal
muscle plays a critical role in metabolic homeostasis, identifying the relationship of blood …
muscle plays a critical role in metabolic homeostasis, identifying the relationship of blood …