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".
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