echemi logo
  • Product
  • Supplier
  • Inquiry
    Home > Active Ingredient News > Study of Nervous System > Lancet Neurology: Genetic Determining Factors for the Survival of Sexual nuclear Paralysis: A Genome-Wide Association Study

    Lancet Neurology: Genetic Determining Factors for the Survival of Sexual nuclear Paralysis: A Genome-Wide Association Study

    • Last Update: 2021-02-23
    • Source: Internet
    • Author: User
    Search more information of high quality chemicals, good prices and reliable suppliers, visit
    Aggressive nuclear paralysis (PSP) is a rapidly developing neurodegenerative disease.
    in classic PSP-Richardson syndrome (PSP-RS), patients experience balance problems, frequent falls, eye dysfunction and dementia, and the average patient survives an average of 6.9 years from the onset of symptoms.
    PSP subtypes defined over the past 10 years, such as PSP-Parkinson's syndrome and PSP-conductive gait freezing, are associated with slower progression.
    previous studies have shown that PSP esopes change through variations at TRIM11/17 bits.
    study, researchers aimed to determine the genetic determining factors in the survival of PSP patients.
    In the first phase of this two-phase genome-wide association study (GWAS), this study included PSP patients diagnosed according to pathological and clinical criteria from two different queues: from the Mayo Clinic (Jacksonville, Florida, USA) and Munich (Germany) PSP GWAS Cohort 2011; another PSP Cohort Study from University College London, from Brain Bank and Prospective Research, is a UK-wide longitudinal study of patients with atypical Parkinson's syndrome.
    this paper evaluates the expression quantitative character site (eQTL) spectrum through genome-wide significant variants in GGWAS using the functional positioning and annotation of the GTAS platform, and uses eQTLGen and PsychENCODE data sets for co-location analysis.
    data collection and analysis for this study runs from 1 August 2016 to 1 February 2020.
    1,001 PSP patients of white European descent in the first phase.
    found a significant correlation between the whole genome and the survival of chromosome 12 (single nucleotide polymorphism rs2242367, p=7.5 × 10-10, risk ratio 1.42 (95% CI 1.22-1.67).
    rs2242367 and the second stage (n=238; p=0.049, 1.22 ?1.00-1.48)) and the two phases The summary analysis of the individual survival rate was related to (n=1239; p=1.3×10-10, 1.37 ?1.25-1.51).
    eQTL database screening showed that rs2242367 was associated with an increase in expression between LRRK2 and two long genes in whole blood that were non-coded RNAs (lncRNAs) LINC0255 and AC079630.4.
    Although the co-positioning signal of LRRK2 was not detected in this study, the analysis of PSP survival signal and eQTLs of LINC02555 in eQTLGen blood data set shows that the probability of post-test of hypothesis 4 is 0.77, which indicates that co-positioning is caused by a single common causal variation.
    , LRRK2 gene base is important as a potential genetic determining factor in disease progression and survival in related tau diseases, i.e. Alzheimer's disease, frontal temporal lobe degeneration, and cortogenic substation degeneration.
    Jabbari, EdwinMok, Kin Y. et al. Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. The Lancet Neurology, Volume 20, Issue 2, 107 - 116 Network Source: Web Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Met Medical" or "Source: MedSci Original" are owned by Mays Medical, are not authorized, may not be reproduced by any media, website or individual, and are authorized to be reproduced with the words "Source: Mays Medicine".
    all reprinted articles on this website are for the purpose of transmitting more information and clearly indicate the source and author, and media or individuals who do not wish to be reproduced may contact us and we will delete them immediately.
    at the same time reproduced content does not represent the position of this site.
    leave a message here
    This article is an English version of an article which is originally in the Chinese language on and is provided for information purposes only. This website makes no representation or warranty of any kind, either expressed or implied, as to the accuracy, completeness ownership or reliability of the article or any translations thereof. If you have any concerns or complaints relating to the article, please send an email, providing a detailed description of the concern or complaint, to A staff member will contact you within 5 working days. Once verified, infringing content will be removed immediately.
    Related Articles

    Contact Us

    The source of this page with content of products and services is from Internet, which doesn't represent Echemi's opinion. If you have any queries, please write to It will be replied within 5 days.

    Moreover, if you find any instances of plagiarism from the page, please send email to with relevant evidence.