Evidence map›Paper›PMID 24758914›Full record

ArticleJournal of human genetics2014

The screening of the 3'UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.

Lucía F Cardo, Eliecer Coto, René Ribacoba, Ignacio F Mata, Germán Moris, Manuel Menéndez, Victoria Alvarez

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In one paragraph

Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 19 citations in OpenAlex.

  1. Trial
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  7. MicroRNAs in Parkinson's disease.Experimental brain research · 2017
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

Lucía F CardoGenética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.
Eliecer Coto1] Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain [2] Department of Medicine, University of Oviedo, Oviedo, Spain.
René RibacobaNeurología, Hospitales Universitario Central Asturias and Álvarez Buylla-Mieres, Asturias, Spain.
Ignacio F Mata1] Geriatric Research, Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA [2] Department of Neurology, University of Washington School of Medicine, Seattle, WA, USA.
Germán MorisNeurología, Hospitales Universitario Central Asturias and Álvarez Buylla-Mieres, Asturias, Spain.
Manuel MenéndezNeurología, Hospitales Universitario Central Asturias and Álvarez Buylla-Mieres, Asturias, Spain.ORCID 0000000252180774
Victoria AlvarezGenética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.
Hospital Universitario Central de Asturias · ESUniversidad de Oviedo · ESUniversity of Puget Sound · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most common genetic determinants of familial and sporadic Parkinson's disease (PD). Most of the mutational screenings analyzed the exon-coding sequence. Our aim was to determine whether LRRK2 3' untranslated region (UTR) variants were associated with the risk of developing PD in a large cohort of patients (n=743) and controls (n=523) from Spain. We identified a total of 12 3'UTR variants (two new). Single-nucleotide polymorphism (SNP) rs66737902 C allele was overrepresented in patients (P=0.005; odds ratio=1.47). This SNP was in linkage disequilibrium with the p.R1441G mutation, but the association remained significant among mutation-negative cases. We found a significant lower level of the LRRK2 transcript in the Substantia nigra (SN) of PD postmortem donors (n=9) who were rs66737902 C carriers (P=0.01). This SNP was predicted to affect a binding site for miR-138-2-3p. We showed that this microRNA was expressed in all the SN samples. In conclusion, we found a significant association between SNP rs66737902 and the risk of developing PD. This effect on PD risk could be explained by differences in LRRK2 transcript levels between the two alleles.

Indexed as

3' Untranslated RegionsPolymorphism, Single NucleotideCase-Control StudiesGenetic Association StudiesGenetic Predisposition to DiseaseHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMicroRNAsMiddle AgedParkinson DiseaseProtein Serine-Threonine KinasesSubstantia Nigra3' Untranslated RegionsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanMicroRNAsMIRN138 microRNA, humanProtein Serine-Threonine Kinases

Identifiers

PMID24758914
OpenAlexW2086617907

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.