Single-cell transcriptomic atlas of human retina from Chinese donors reveals population-specific cellular diversity.

The human retina exhibits complex cellular heterogeneity which is critical for visual function, yet comprehensive ethnic-specific references are scarce in ophthalmic transcriptomics. The lack of single-cell RNA sequencing (scRNA-seq) data from Asian populations particularly Chinese donors imposes significant limitations in understanding population-specific retinal biology. We constructed the first comprehensive single-cell transcriptomic atlas of the human retina from Chinese donors, generated through high-throughput scRNA-seq of ∼290,000 viable cells obtained from 18 fresh retinal specimens (living donor and post-mortem specimens).

Integrative GWAS and Mendelian randomization study of rheumatoid arthritis based on the 2019 UK Biobank questionnaire.

Introduction: Rheumatoid arthritis (RA) is the most prevalent autoimmune inflammatory joint disorder worldwide. We aimed to identify the genetic variants contributing to RA and investigate the potential influence of related diseases on RA risk.

Methods: We performed genome-wide association studies (GWAS) on RA using the 2019 UK Biobank pain questionnaire.

A scRNA-seq reference contrasting living and early post-mortem human retina across diverse donor states.

Background: Current human retina studies predominantly utilize post-mortem tissue, and the sample accessibility constraints make the characterization of the living human retina at single-cell resolution a challenge. Although single-nucleus RNA-seq expands the utility of frozen samples, it provides a nuclear-centric view, potentially missing key cytoplasmic information and transient biological processes. Thus, it is important to generate resources directly from living human retinal tissue to complement existing datasets.

Genome-wide association study identifies novel genetic variants associated with widespread pain in the UK Biobank ( = 172,230).

Objectives: Widespread pain is a hallmark characteristic of fibromyalgia, commonly affecting older individuals. This study aimed to identify novel genetic variants associated with widespread pain by utilizing the extensive UK Biobank dataset.

Methods: We conducted a primary genome-wide association study (GWAS) using a novel definition of widespread pain, defined as pain experienced all over the body during the past month.

A genome-wide association study identifies novel genetic variants associated with neck or shoulder pain in the UK biobank (N = 430,193).

Introduction: Neck and shoulder pain are prevalent musculoskeletal disorders that significantly affect the quality of life for a substantial portion of the global population. Studies have shown that women are more susceptible than men.

Objective: This study aims to discover genetic variants associated with neck or shoulder pain through a genome-wide association study (GWAS), using data from 430,193 participants in the UK Biobank.

Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy.

Purpose: Diabetic maculopathy (including diabetic macular edema [DME]) is the leading cause of vision loss in people with diabetes. We aimed to identify the genetic determinants of diabetic maculopathy.

Methods: We conducted a genome-wide association study (GWAS) in two cohorts with a meta-analysis.

A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127).

Hip pain is a common musculoskeletal complaint that leads many people to seek medical attention. We conducted a primary genome-wide association study (GWAS) on the hip pain phenotype within the UK Biobank cohort. Sex-stratified GWAS analysis approach was also performed to explore sex specific variants associated with hip pain.