Evidence map›Paper›PMID 27613114›Full record

ArticleBMC medical genetics2016

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.

Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 26% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Sepiapterin reductase: Characteristics and role in diseases.Journal of cellular and molecular medicine · 2020
    Review
  6. Association between ZNF184 and symptoms of Parkinson's disease in southern Chinese.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020
    Article
  7. Article
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

6 authors at 1 institution in 1 country.

Charmaine ZahraLaboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta.
Christine TaboneDepartment of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta.
Graziella CamilleriDepartment of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta.
Alex E FeliceLaboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta.
Rosienne FarrugiaDepartment of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta.
Stephanie Bezzina WettingerLaboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta. stephanie.bezzina-wettinger@um.edu.mt.
University of Malta · MT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations. Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G > A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A > G) and Methylenetetrahydrofolate Reductase NM_005957 (MTHFR c.677C > T and c.1298A > C) genes are frequent in Malta and potential candidates for PD.

methods178 cases and 402 control samples from Malta collected as part of the Geoparkinson project were genotyped for MTHFR polymorphisms, QDPR and SPR mutations. Only PD and parkinsonism cases were tested for SNCA and LRRK2 mutations.

resultsLRRK2 c.4321C > G and SNCA c.209G > A were not detected. The LRRK2 c.6055G > A mutation was found in 3.1 % of Maltese PD cases. The QDPR mutation was found in both cases and controls and did not increase risk for PD. The SPR mutation was found in controls only. The odds ratios for MTHFR polymorphisms were not elevated.

conclusionsThe LRRK2 c.6055G > A is a cause of PD in the Maltese, whilst QDPR c.68G > A, SPR c.596-2A > G and MTHFR c.677C > T and c.1298A > C are not important determinants of PD.

Indexed as

AdultAgedAged, 80 and overAlcohol OxidoreductasesAllelesCase-Control StudiesDihydropteridine ReductaseFemaleGene FrequencyGenotypeHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMaltaMethylenetetrahydrofolate Reductase (NADPH2)Middle AgedAlcohol OxidoreductasesDihydropteridine ReductaseLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, humansepiapterin reductaseAlpha-synucleinLeucine-rich repeat kinase 2MalteseMethylenetetrahydrofolate ReductaseParkinson’s DiseaseQuinoid Dihydropteridine ReductaseSepiapterin Reductase

Identifiers

PMID27613114
PMCPMC5016953
OpenAlexW2516617526

What OpenQuestion holds

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LicenceCC BY
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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.