Mono-and biallelic variant effects on disease at biobank scale

HO Heyne, J Karjalainen, KJ Karczewski, SM Lemmelä… - Nature, 2023 - nature.com
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 …

Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions

MP Purdue, D Dutta, MJ Machiela, BR Gorman… - Nature …, 2024 - nature.com
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) …

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 …

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

PH Dixon, AP Levine, I Cebola, MMY Chan… - Nature …, 2022 - nature.com
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 …

[HTML][HTML] Causal relationship between meat intake and biological aging: evidence from Mendelian randomization analysis

S Liu, Y Deng, H Liu, Z Fu, Y Wang, M Zhou, Z Feng - Nutrients, 2024 - mdpi.com
Existing research indicates that different types of meat have varying effects on health and
aging, but the specific causal relationships remain unclear. This study aimed to explore the …

A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation

BR Gorman, M Francis, CL Nealon… - Communications …, 2024 - nature.com
Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal
transplantation, but its molecular etiology remains poorly understood. We performed …

Unveiling the causal link between metabolic factors and ovarian cancer risk using Mendelian randomization analysis

L Han, S Xu, D Zhou, R Chen, Y Ding… - Frontiers in …, 2024 - frontiersin.org
Background Metabolic abnormalities are closely tied to the development of ovarian cancer
(OC), yet the relationship between anthropometric indicators as risk indicators for metabolic …

Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data

S Li, KT Schmid, DH de Vries, M Korshevniuk, C Losert… - Genome Biology, 2023 - Springer
Background Expression quantitative trait loci (eQTL) studies show how genetic variants
affect downstream gene expression. Single-cell data allows reconstruction of personalized …

Association of VEGFR2 Polymorphisms with Clinical Outcomes of Anti-angiogenesis Therapy in Cancer Patients: A Systematic Review and Meta-analysis

W Feng, L Zhou, J He, Y Wang, J Cai, T Jiang… - European Journal of …, 2025 - Elsevier
Background Some cancer patients derive limited benefit from anti-angiogenic therapy or
discontinuation due to adverse reactions. Vascular endothelial growth factor receptor 2 …