Biomedical subjects

Qian Ma

Publications and source records attributed to Qian Ma.

3 recordsLinked to original sources

PubMed2026

Multilevel genomic, transcriptomic, and epidemiologic evidence linking diabetic retinopathy to Alzheimer disease.

BACKGROUND: Diabetic retinopathy (DR) and Alzheimer disease (AD) share metabolic and vascular dysfunctions, but the extent to which they reflect overlapping genetic susceptibility and neurovascular-metabolic regulatory pathways remains unclear. We combined multi-omics analyses with population-based data to examine the genetic convergence, cellular pathways, and longitudinal association between DR and AD. METHODS: We performed a two-sample Mendelian randomisation (MR) to estimate the association between genetically predicted DR liability and AD risk. We used Bayesian colocalisation analysis to identify shared genomic loci, and summary-data-based MR (SMR) to detect expression-mediated genes jointly associated with DR and AD. We analysed single-cell RNA sequencing data to characterise shared cellular features and related biological pathways. We also conducted an MR-based mediation analysis to explore whether lipid-related, metabolic, or inflammatory traits mediated the observed DR-AD association, and a longitudinal analysis of the UK Biobank cohort to assess the association between DR and incident AD. RESULTS: With the MR analysis, we found that genetically predicted liability to DR was associated with a modest increase in AD risk. Colocalisation analysis supported a shared genetic signal. We identified three genes with shared expression-mediated associations across DR and AD through SMR. Functional enrichment analyses revealed partially overlapping neurovascular and metabolic pathways. Using MR-based mediation analysis, we found no significant intermediary traits linking DR and AD. Findings from the UK Biobank cohort were directionally consistent with the genetic analyses. CONCLUSIONS: Genetic liability to DR is associated with an increased risk of AD and is accompanied by shared expression-mediated effects and convergent neurovascular-metabolic pathways. These findings support the possibility that DR may serve as a clinically accessible indicator of increased neurodegenerative vulnerability.

Humans↗

PubMed2026

Probiotic Lacticaseibacillus casei 2S-1 Attenuates Escherichia coli-Induced Enteritis via Gut Microbiota Modulation and Host Gene Regulation.

Maintaining gut microbial homeostasis is crucial for host health, whereas infection with Escherichia coli (E. coli) is a major contributor to intestinal inflammation and microbial dysbiosis. Recent research has focused on probiotic strategies for managing enteric inflammatory disorders. Previous studies have shown that beneficial microorganisms show protection through modulating host immune responses, enhancing intestinal epithelial barrier integrity, and inhibiting pathogenic bacteria. To evaluate the prophylactic effectiveness of a recently isolated strain, Lacticaseibacillus casei 2S-1, in a murine model of E. coli-induced enteritis, this study focuses on interactions within the microbiota-intestinal-immune axis, together with host transcriptional responses and pathway enrichment associated with oxidative stress and mitochondrial function. In vitro analysis of probiotic features, including growth dynamics, acidogenic capacity, and tolerance to acidic and bile salt environments, as well as genetic safety profiling, followed the methodical isolation and taxonomic identification of L. casei 2S-1. A preventive intervention protocol was established, and a murine model of enteritis was induced by exposure to E. coli. Histopathological analyses were performed to observe in vivo safety and protective efficacy. Changes in gut microbial structure were characterized by 16S rRNA gene sequencing, while host responses were identified by intestinal immunohistochemistry and transcriptome profiling. L. casei 2S-1 showed probiotic properties. In vitro analyses showed that the strain exhibited tolerance to acidic and bile salt conditions, and its untreated culture supernatant showed antimicrobial activity against pathogenic bacteria. Its safety profile was supported by genomic analysis, which verified the lack of virulence-associated genes and antibiotic resistance factors. In vivo, L. casei 2S-1 pretreatment reduced mortality and intestinal inflammation, modulated gut microbial composition, and preserved intestinal barrier-associated protein expression in infected mice. This study provides experimental evidence supporting the prophylactic effects of L. casei 2S-1 and its associations with gut microbiota modulation and host transcriptional responses, providing a foundation for further investigation of probiotic-based preventive strategies against intestinal infections.

Animals↗

PubMed2025

Causal association between different types of ametropia and risk of diabetic retinopathy: a two-sample Mendelian randomization study.

OBJECTIVE: To investigate the causal link between ametropia and diabetic retinopathy, as well as to offer genetic support for the association between these two conditions. METHODS: This study employed a methodology involving the utilisation of genome-wide association studies data that are publicly accessible. Specifically, single nucleotide polymorphisms (SNPs) that exhibit a strong association with ametropia were employed as instrumental variables, and a two-sample Mendelian randomization (MR) approach was employed to examine the causal relationship between different types of ametropia and diabetic retinopathy. The main findings were derived from the utilisation of inverse variance weighted (IVW), while supplementary results were obtained through the utilisation of MR Egger, weighted median, simple mode and weighted mode. Additionally, a sensitivity analysis was conducted using the 'leave-one-out' method. Cochran's Q statistics were also used to quantify the heterogeneity of SNPs. RESULTS: 38 SNPs were finally included. The results of the IVW analysis indicate that myopia may exert an inhibitory effect on the development of diabetic retinopathy (OR=0.596, 95% CI (0.371, 0.957), p<0.05). Conversely, hypermetropia (OR=8.882, 95% CI (0.389×10-3, 2.06×105), p>0.05) and astigmatism (OR=1.004, 95% CI (0.888, 1.135), p>0.05) do not exhibit a causal relationship with the risk of diabetic retinopathy. CONCLUSION: This two-sample Mendelian randomization study provides evidence that myopia may impede diabetic retinopathy occurrence, while hypermetropia and astigmatism show no significant causal effects. However, our analysis treats refractive errors as independent entities, which may not reflect their clinical interdependence. Further investigations are warranted to elucidate myopia's protective mechanisms.

Humans↗