Microglial efferocytosis: diving into the Alzheimer's disease gene pool

C Romero-Molina, F Garretti, SJ Andrews, E Marcora… - Neuron, 2022 - cell.com
Genome-wide association studies and functional genomics studies have linked specific cell
types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles …

From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries

B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

Contribution of specific ceramides to obesity-associated metabolic diseases

P Hammerschmidt, JC Brüning - Cellular and Molecular Life Sciences, 2022 - Springer
Ceramides are a heterogeneous group of bioactive membrane sphingolipids that play
specialized regulatory roles in cellular metabolism depending on their characteristic fatty …

The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Lipid remodeling of adipose tissue in metabolic health and disease

YK Cho, S Lee, J Lee, J Doh, JH Park… - … & Molecular Medicine, 2023 - nature.com
Adipose tissue is a dynamic and metabolically active organ that plays a crucial role in
energy homeostasis and endocrine function. Recent advancements in lipidomics techniques …

The dark side of sphingolipids: searching for potential cardiovascular biomarkers

P Di Pietro, C Izzo, AC Abate, P Iesu, MR Rusciano… - Biomolecules, 2023 - mdpi.com
Cardiovascular diseases (CVDs) are the leading cause of death and illness in Europe and
worldwide, responsible for a staggering 47% of deaths in Europe. Over the past few years …

The genetic epidemiology of type 2 diabetes: opportunities for health translation

JB Meigs - Current diabetes reports, 2019 - Springer
Abstract Purpose of Review Genome-wide association studies have delineated the genetic
architecture of type 2 diabetes. While functional studies to identify target transcripts are …

Ceramides are fuel gauges on the drive to cardiometabolic disease

JL Wilkerson, SM Tatum, WL Holland… - Physiological …, 2024 - journals.physiology.org
Ceramides are signals of fatty acid excess that accumulate when a cell's energetic needs
have been met and its nutrient storage has reached capacity. As these sphingolipids accrue …

A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci

AC Joslin, DR Sobreira, GT Hansen, NJ Sakabe… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified many disease-associated
variants, yet mechanisms underlying these associations remain unclear. To understand …