Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis DOI Creative Commons
Ting‐Yuan Liu, Min-Rou Lin, Hsing-Fang Lu

и другие.

Clinical Immunology, Год журнала: 2024, Номер 269, С. 110381 - 110381

Опубликована: Окт. 20, 2024

Язык: Английский

Epidemiology and Risk Factors of Dry Eye Disease: Considerations for Clinical Management DOI Creative Commons
Alexis Ceecee Britten‐Jones, Michael T.M. Wang, Isaac Samuels

и другие.

Medicina, Год журнала: 2024, Номер 60(9), С. 1458 - 1458

Опубликована: Сен. 5, 2024

Dry eye disease is a multifactorial condition characterised by tear film instability, hyperosmolarity and ocular surface inflammation. Understanding the epidemiology of dry recognising both modifiable non-modifiable risk factors can assist care practitioners in assessing, treating, managing patients with condition. This review considers current knowledge surrounding its incidence prevalence, as well associated demographic, systemic, ocular, iatrogenic, lifestyle-related factors. Population-based prevalence estimates vary according to diagnostic criteria used define disease, severity demographic characteristics population. Considering recent data variable population demographics, conservative suggest that 10-20% over 40 years age report moderate severe symptoms and/or seek treatment for disease. Individuals specific may be at increased developing Advanced age, female sex East Asian ethnicity have been identified key features predisposing individuals Systemic conditions an include migraine, Sjögren syndrome, connective tissue disorders, mental health diabetes mellitus androgen deficiency. Medications contribute this antidepressants, antihistamines, hormone replacement therapy. Ocular iatrogenic blepharitis,

Язык: Английский

Процитировано

9

Systems Biology of Dry Eye: Unraveling Molecular Mechanisms through Multi-Omics Integration DOI
Zhirui Zhang, Changxing Liu, Lingying Zhao

и другие.

The Ocular Surface, Год журнала: 2024, Номер unknown

Опубликована: Дек. 1, 2024

Язык: Английский

Процитировано

3

Genome-wide association study of dry eye disease reveals shared heritability with systemic comorbidities DOI Creative Commons
Bryan R. Gorman,

Jaxon J. Huang,

Peter B. Barr

и другие.

medRxiv (Cold Spring Harbor Laboratory), Год журнала: 2025, Номер unknown

Опубликована: Март 20, 2025

Dry eye disease (DED) affects up to 25% of the adult population, with chronic symptoms pain and dryness often negatively impacting quality life. The genetic architecture DED is largely unknown. Here, we develop validate an algorithm for in Million Veteran Program using a combination diagnosis codes prescription records, resulting 132,657 cases 352,201 controls. In multi-ancestry genome-wide association study, identify ten significant loci nine susceptibility regions consistent effects across ancestries, including linked synapse maintenance ( EPHA5 , GRIA1 SYNGAP1 ) autoimmunity BLK ). Phenome-wide scans pleiotropy indicate substantial correlations comorbidities, fibromyalgia, post-traumatic stress disorder, Sjögren's disease. Finally, applying genomic structural equation modeling, derive latent factor underlying other traits which accounts 51% variance DED.

Язык: Английский

Процитировано

0

Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment DOI Creative Commons
Kao-Jung Chang,

C.-C. Wang,

Hsin-Yu Wu

и другие.

Translational Vision Science & Technology, Год журнала: 2025, Номер 14(4), С. 16 - 16

Опубликована: Апрель 14, 2025

Retinal detachment (RD) is a vision-threatening condition that manifests silently before abrupt disease onset; thus, most of the RD at-risk individuals are left unchecked until first attack. To establish an risk-informing system for broader population, we utilized carotid ultrasonography (CUS) biometrics, polygenic risk score (PRSRD), and clinical covariates (COVs) to assess predisposition factors. First, backpropagation logistic regression model identified RD-associated CUS biomarkers further incorporated them as multivariable RD-risk nomogram. Next, PRSRD was established with selected single-nucleotide polymorphisms (SNPs) curated high functional expression candidates in retina single-cell RNA datasets. Finally, three-component prediction (CUS, PRSRD, COVs) assembled by cumulative analysis. Demographic analysis reported hypertension (HTN) status associated (odds ratio [OR] = 1.601). The revealed minimum flow right internal artery (ICA-Qmin; OR 1.04) time-averaged maximum velocity common (CCA-TAMAX; 1.03) were increased risk. Notably, genome-wide association studies (GWAS) three significant SNPs (IGFBPL1 rs117248428, 1.63; CELF2 rs56168975, 1.72; PAX6 rs11825821, 1.61; P < 5.00 × 10-6) highly expressed at border retinal pigment epithelium choroid. demonstrated state-of-the-art (AUCHTN+ 0.95, AUCHTN- 0.93). Based on instrumenting images genetic proposing screening method patients. Results from this study combination GWAS cost-effective, population-wide framework identifying individuals.

Язык: Английский

Процитировано

0

Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis DOI Creative Commons
Ting‐Yuan Liu, Min-Rou Lin, Hsing-Fang Lu

и другие.

Clinical Immunology, Год журнала: 2024, Номер 269, С. 110381 - 110381

Опубликована: Окт. 20, 2024

Язык: Английский

Процитировано

1