Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk

  title={Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk},
  author={Yan Zhang and Longcai Wang and Haiyang Jia and Mingzhi Liao and Xiaoyun Chen and Jianyong Xu and Yunjuan Bao and Guiyou Liu},
  journal={Journal of the Neurological Sciences},
rs1990622 variant associates with Alzheimer’s disease and regulates TMEM106B expression in human brain tissues
The comprehensive analyses highlighted the role of FTD rs1990622 variant in AD risk and the importance to better understand TMEM106B function and dysfunction in the context of normal aging and neurodegenerative diseases.
Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way
The results show that the minor allele frequency of rs755622 and expression of DDT are significantly increased in males for MS subjects and this minor allele variant can significantly upregulate DDT expression for males but not females, which suggests that the regulation ofDDT expression level by rs755522 can affect MS progression in males.
SERPINA1 gene expression in whole blood links the rs6647 variant G allele to an increased risk of large artery atherosclerotic stroke
  • Qingrong Liu, Pan Cui, Haijie Liu
  • Biology
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 2020
SerPINA1 gene expression in whole blood bridges the rs6647 variant G allele with increased LAS risk, providing new insights into the mechanisms underlying role of thers6647 in determining LASrisk.
Genetic Variants Associated With Neurodegenerative Diseases Regulate Gene Expression in Immune Cell CD14+ Monocytes
The results that showed that rs1476679 and rs76904798 variants or their proxy variants could significantly regulate the expression of PILRB and LRRK2 in immune cell CD14+ monocytes and human peripheral blood are verified.
Shared Gene Expression Between Multiple Sclerosis and Ischemic Stroke
The outcome of gene-based test and pathway-based analysis of GWAS datasets that explored potential gene expression links between MS and IS provide an improved understanding about possible shared mechanisms and treatments strategies for MS andIS and provide some basis for further studies of how these two diseases are linked at the molecular level.
Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease.
It is demonstrated that PD rs117896735 variant could regulate INPP5F expression in brain tissues and increase the risk of AD.
Mendelian randomization study to evaluate the effects of interleukin-6 signaling on four neurodegenerative diseases
Genetic evidence that inhibiting the IL-6 signaling such as tocilizumab treatment might represent a novel therapy for MS is provided, which has the similar directional effects to an existing humanized anti-IL-6R monoclonal antibody TocilizumAB which could bind to the Il-6 binding site of human IL- 6R and competitively inhibit IL-7 signaling.
Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis
A functional analysis of rs7805747 variant is performed using multiple bioinformatics software and databases to provide new insight into the underlying susceptibility of PRKAG2 gene to CKD.
Oxysterols in Autoimmunity
The current knowledge about the role of oxysterols during autoimmune conditions is reviewed and the implication of LXR-dependent and LXRs-independent pathways are highlighted, in particular during central nervous system autoimmunity and inflammatory bowel diseases.
Effect of Single Nucleotide Polymorphisms on the structure of long noncoding RNAs and their interaction with RNA Binding Proteins
67 lncRNAs with GWAS-tagged SNPs are selected and their role in affecting the local secondary structures is investigated and structural modifications may influence the transcriptional and post-transcriptional pathways of these RNAs, leading to the causation of diseases.


Rs4878104 contributes to Alzheimer’s disease risk and regulates DAPK1 gene expression
It is suggested that rs4878104 may contribute AD susceptibility by modifying DAPK1 expression in European population by modifying the allele and genotype genetic models based on multiple large-scale expression quantitative trait loci datasets.
NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk
It is concluded that the reported low-frequency association is a false positive, likely generated by insufficient sample size and the claim of NR1H3 mutations describing a Mendelian form of MS-of which no examples exist-can therefore not be substantiated by data.
Convergent Genetic and Expression Datasets Highlight TREM2 in Parkinson’s Disease Susceptibility
Convergent genetic and expression datasets demonstrate that TREM2 is a potent risk factor for PD and may be a therapeutic target in PD and other neurodegenerative diseases.
SORL1 Variants Show Different Association with Early-Onset and Late-Onset Alzheimer's Disease Risk.
The findings suggest that three genetic variants rs2070045, rs1699102, and rs3824968 could significantly regulate SORL1 expression in human brain tissues and provide important supplementary information about the involvement of the SORl1 variants in LOAD risk.
Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression
Interestingly, a nonsynonymous variant in the CD226 gene was identified to be significantly associated with several autoimmune diseases, including MS, which further supported Gross et al.
Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions
15 rs9828519-tagged SNPs are identified that significantly regulated SLC9A9 expression only in occipital cortex, intralobular white matter, and substantia nigra and advance the understanding of the involvement of SLC 9A9 and rs98 28519 mechanisms in MS.
Integrating genome-wide association studies and gene expression data highlights dysregulated multiple sclerosis risk pathways
It is found that dysregulated MS genes were significantly enriched in 10 of 15 MS risk pathways identified in stages 1 and 2, and the findings provide new insights on the genetic determinants of MS.