Familial cases of multiple sclerosis: gender differences and clinical course DOI Open Access
Tetyana Nehrych,

M.Ya. Lafarenko

INTERNATIONAL NEUROLOGICAL JOURNAL, Год журнала: 2024, Номер 20(6), С. 265 - 270

Опубликована: Ноя. 7, 2024

Background. This study focuses on analyzing the progression of multiple sclerosis (MS) across different familial and age cohorts to determine gender-specific trends in disease onset, progression, severity. Objective: regularities course MS based analysis mean duration, level disability (on Expanded Disability Status Scale (EDSS)) family clusters. Materials methods. A cohort 10 (20 individuals, 16 women 4 men) was studied. Analysis encompassed older (9 women, 1 man) younger members (7 3 men). In addition, a comparative conducted by according World Health Organization criteria: young patients middle-aged women). Results. The confirmed higher prevalence among within Specifically, average onset 34.67 years, which compared men (26 years). EDSS scores revealed significant gender differences, with having an score 6.0 indicating levels that who had 3.44. Younger (up 44 years old) exhibited earlier shorter duration (44 59 years), tended have later scores, indicative more severe disability. Young showed reflecting pronounced than but lower scores. Conclusions. findings highlight substantial differences MS, should be taken into account clinical management patients. These results provide foundation for further research development personalized approaches treatment prevention MS.

Язык: Английский

Evidence for the gut‐skin axis: Common genetic structures in inflammatory bowel disease and psoriasis DOI Creative Commons
Jinyan Guo, Qinghua Luo, Chunsheng Li

и другие.

Skin Research and Technology, Год журнала: 2024, Номер 30(2)

Опубликована: Фев. 1, 2024

Abstract Background Inflammatory bowel disease (IBD) and psoriasis (Ps) are common immune‐mediated diseases that exhibit clinical comorbidity, possibly due to a genetic structure. However, the exact mechanism remains unknown. Methods The study population consisted of IBD Ps genome‐wide association (GWAS) data. Genetic correlations were first evaluated. Then, overall evaluation employed LD score regression (LDSC), while local assessment utilized heritability estimation from summary statistics (HESS). Causality was conducted through two‐sample Mendelian randomization (2SMR), overlap analysis conditional false discovery rate/conjunctional FDR (cond/conjFDR) method. Finally, LDSC applied specifically expressed genes (LDSC‐SEG) performed at tissue level. For Ps‐specific genes, correlation, causality, shared genetics, trait‐specific associated tissues methodically examined. Results At genomic level, both found between Ps. MR indicated positive causal relationship IBD. conjFDR with threshold < 0.01 identified 43 loci Subsequent investigations into disease‐associated close whole blood, lung, spleen, EBV‐transformed lymphocytes. Conclusion current research offers novel perspective on It contributes an enhanced comprehension structure mechanisms comorbidities in diseases.

Язык: Английский

Процитировано

13
Genetic overlap between Alzheimer’s disease and immune-mediated diseases: an atlas of shared genetic determinants and biological convergence DOI
Nitesh Enduru, Brisa S. Fernandes, Shahram Bahrami

и другие.

Molecular Psychiatry, Год журнала: 2024, Номер 29(8), С. 2447 - 2458

Опубликована: Март 18, 2024

Язык: Английский

Процитировано

13
Herpesviridae, Neurodegenerative Disorders and Autoimmune Diseases: What Is the Relationship between Them? DOI Creative Commons
Maria Antonia De Francesco

Viruses, Год журнала: 2024, Номер 16(1), С. 133 - 133

Опубликована: Янв. 17, 2024

Alzheimer’s disease and Parkinson’s represent the most common forms of cognitive impairment. Multiple sclerosis is a chronic inflammatory central nervous system responsible for severe disability. An aberrant immune response cause myelin destruction that covers axons in brain, spinal cord, optic nerves. Systemic lupus erythematosus an autoimmune characterized by alteration B cell activation, while Sjögren’s syndrome heterogeneous altered responses. The etiology all these diseases very complex, including interrelationship between genetic factors, principally associated genes, environmental factors such as infectious agents. However, neurodegenerative share proinflammatory signatures perturbation adaptive immunity might be influenced herpesviruses. Therefore, they play critical role pathogenesis. aim this review was to summarize principal findings link herpesviruses both diseases; moreover, briefly underlining potential therapeutic approach virus vaccination antivirals.

Язык: Английский

Процитировано

8
Mapping the genetic landscape of psychiatric disorders with the MiXeR toolset DOI Creative Commons
Dennis van der Meer, Guy Hindley, Alexey Shadrin

и другие.

Biological Psychiatry, Год журнала: 2025, Номер unknown

Опубликована: Фев. 1, 2025

Язык: Английский

Процитировано

1
Inflammatory bowel disease and rheumatoid arthritis share a common genetic structure DOI Creative Commons

Guoling Cao,

Qinghua Luo,

Yunxiang Wu

и другие.

Frontiers in Immunology, Год журнала: 2024, Номер 15

Опубликована: Июнь 13, 2024

Background The comorbidity rate of inflammatory bowel disease (IBD) and rheumatoid arthritis (RA) is high; nevertheless, the reasons behind this high remain unclear. Their similar genetic makeup probably contributes to comorbidity. Methods Based on data obtained from genome-wide association study IBD RA, we first assessed an overall by performing linkage disequilibrium score regression (LDSC) analysis. Further, a local correlation analysis was performed estimating heritability in summary statistics. Next, causality between two diseases analyzed two-sample Mendelian randomization (MR). A overlap conditional/conjoint false discovery (cond/conjFDR) method.LDSC with specific expression gene identify related tissues diseases. Finally, GWAS multi-trait (MTAG) also carried out. Results RA are correlated at genomic level, both locally. MR results suggested that induced RA. We identified 20 shared loci basis conjFDR &lt;0.01. Additionally, tissues, namely spleen small intestine terminal ileum, which were commonly associated Conclusion Herein, proved presence polygenic provided new insights into architecture mechanisms underlying these

Язык: Английский

Процитировано

4
The shared genetic landscape of polycystic ovary syndrome and breast cancer: convergence on ER + breast cancer but not ER- breast cancer DOI Creative Commons

Kaixin Bi,

Miaoran Chen,

Qianru Zhao

и другие.

Breast Cancer Research, Год журнала: 2024, Номер 26(1)

Опубликована: Ноя. 25, 2024

The clinically high comorbidity between polycystic ovary syndrome (PCOS) and breast cancer (BC) has been extensively reported. However, limited knowledge exists regarding their shared genetic basis underlying mechanisms. Leveraging summary statistics from the largest genome-wide association studies (GWASs) to date, we conducted a comprehensive cross-trait analysis of PCOS BC. A variety statistical methods were employed uncover potential causes. Our revealed overlap three trait pairs. After partitioning genome into 2,495 independent regions, identified two loci, chr8: 75,011,700–76,295,483 chr17: 6,305,079–7,264,458, with significant localized correlations. Pleiotropic under composite null hypothesis 1,183 pleiotropic single nucleotide polymorphisms (SNPs) across FUMA mapped 26 regions 16q12.2 6q25.1 duplicated all pairs, while COLOC detected loci colocalization evidence. Gene-based 23 unique candidate genes, including FTO by as well SER1, RALB, others in Pathway enrichment further highlighted key biological pathways, primarily involving pathways metabolism regulation autophagy, cellular catabolic process, positive process. Latent Heritable Confounder Mendelian randomization (LHC-MR) supported causal relationship both BCALL ERPBC but not ERNBC. In conclusion, our BC, specific identical mechanisms causality various BC subtypes, which could better explains genetics co-morbidity rather than These findings provide new insights these complex diseases, have important implications for clinical disease intervention, treatment, improved prognosis.

Язык: Английский

Процитировано

3
Alzheimer's disease (AD) in multiple sclerosis (MS): A systematic review of published cases, mechanistic links between AD and MS, and possible clinical evaluation of AD in MS DOI Creative Commons

Ross Cottrill,

Anupa Ekanayake,

Cooper Grove

и другие.

Journal of Alzheimer s Disease Reports, Год журнала: 2025, Номер 9

Опубликована: Янв. 1, 2025

Background: Alzheimer's disease (AD) and multiple sclerosis (MS) are two neurological disorders that can pose enormous burden to a person's quality of life. Due new therapeutic advancements significantly extend the lifespan, there may be an increased prevalence AD in elderly MS patients. Objective: Building on previous review MS-AD coexistence, this not only aimed broaden pool literature searched, but also investigated possible mechanistic links between clinical markers for AD. Methods: We searched newly reported cases coexisting PubMed, Clinical Key, BioMed Central, Europe PubMed Central databases; identified 101 addition previously 24 by Luczynski et al. (2019). The resulting 125 comorbid necessitated evaluation pathogenesis Results: This highlights many overlaps (for instance, immune cell dysfunction, glymphatic genetics, environmental factors, others). critically evaluated laboratory metrics used identify patients (e.g., MRI, amyloid-β tau protein identification, miRNA biomarker evaluation, cerebrospinal fluid analysis, vitamin levels, gut microbiota etc.). Conclusions: Future research should refine these diagnostic criteria focus enhancing screening detection methods Furthermore, one investigate primary causes comorbidity MS.

Язык: Английский

Процитировано

0
Identification of genetic architecture shared between schizophrenia and Alzheimer’s disease DOI Creative Commons
Huaigui Liu, Yingying Xie, Yuan Ji

и другие.

Translational Psychiatry, Год журнала: 2025, Номер 15(1)

Опубликована: Апрель 16, 2025

Both schizophrenia (SCZ) and Alzheimer's disease (AD) are highly heritable brain disorders. Despite of the observed comorbidity shared psychosis cognitive decline between two disorders, genetic risk architecture by SCZ AD remains largely unknown. Based on summary statistics currently available largest genome-wide association studies for (n = 130,644) 455,258) in individuals European ancestry, we conducted conditional/conjunctional false discovery rate (FDR) analysis to enhance statistical power discovering more associations with or detect common variants both We found conditioned vice versa across different levels significance, indicating polygenic overlap. 268 (78 novel) SCZ-only 125 (55 AD-only SNPs at conditional FDR < 0.01, 16 lead conjunctional 0.05. Only half showed concordant effect direction, which was consistent modest correlation (r 0.097; P 0.026) This study provides evidence overlap AD, suggesting existence molecular mechanisms, may inform therapeutic targets that applicable

Язык: Английский

Процитировано

0
Association between frailty and inflammatory cytokines in patients with multiple sclerosis: a case-control study DOI
S. Xing, Xue Li, Chen Chen

и другие.

Cytokine, Год журнала: 2025, Номер 191, С. 156945 - 156945

Опубликована: Май 6, 2025

Язык: Английский

Процитировано

0
Plasma protein-based identification of neuroimage-driven subtypes in mild cognitive impairment via protein-protein interaction aware explainable graph propagational network DOI
Sunghong Park, Do Yoon Kim, Heirim Lee

и другие.

Computers in Biology and Medicine, Год журнала: 2024, Номер 183, С. 109303 - 109303

Опубликована: Окт. 30, 2024

Язык: Английский

Процитировано

3