Evidence map›Paper›PMID 31487119›Full record

ArticleMolecular genetics & genomic medicine2019

LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case-control association study for Parkinson's disease.

Aroma Agape Gopalai, Jia Lun Lim, Hui-Hua Li, Yi Zhao, Thien Thien Lim, Gaik B Eow, Santhi Puvanarajah, Shanthi Viswanathan, Mohamed Ibrahim Norlinah, Zariah Abdul Aziz and 6 more

Abstract read
In one paragraph

Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
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

11 citing papers in PubMed.

  1. Article
  2. Review
  3. Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023
    Review
  4. LRRK2 and Parkinson's disease: from genetics to targeted therapy.Annals of clinical and translational neurology · 2023
    Review
  5. Review
  6. Article
  7. Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  8. Review
  9. Genetic and Environmental Factors Influence the Pleomorphy ofInternational journal of molecular sciences · 2021
    Review
  10. Article
  11. 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

16 authors.

Aroma Agape GopalaiFaculty of Medicine, Department of Biomedical Science, University of Malaya, Kuala Lumpur, Malaysia.
Jia Lun LimFaculty of Medicine, Department of Biomedical Science, University of Malaya, Kuala Lumpur, Malaysia.
Hui-Hua LiHealth Services Research, Singapore General Hospital, Singapore, Singapore.
Yi ZhaoDepartment of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
Thien Thien LimIsland Hospital, George Town, Malaysia.
Gaik B EowDepartment of Neurology, Hospital Pulau Pinang, Penang, Malaysia.
Santhi PuvanarajahDepartment of Neurology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Shanthi ViswanathanDepartment of Neurology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.ORCID 0000-0002-0094-0540
Mohamed Ibrahim NorlinahHospital University Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
Zariah Abdul AzizDepartment of Medicine, Hospital Sultanah Nur Zahirah, Kuala Terengganu, Malaysia.
Soo Kun LimFaculty of Medicine, Department of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Chong Tin TanFaculty of Medicine, Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia.
Ai Huey TanFaculty of Medicine, Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia.
Shen-Yang LimFaculty of Medicine, Division of Neurology and the Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, University of Malaya, Kuala Lumpur, Malaysia.
Eng-King TanDepartment of Neurology, Singapore General Hospital, Singapore, Singapore.
Azlina Ahmad AnnuarFaculty of Medicine, Department of Biomedical Science, University of Malaya, Kuala Lumpur, Malaysia.ORCID 0000-0001-6329-4366

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe LRRK2 gene is associated with Parkinson's disease (PD) as a number of mutations within the gene have been shown to be susceptibility factors. Studies on various global populations have determined that mutations such as G2019S, G2385R, and R1628P in LRRK2 increase the risk of developing PD while the N551K-R1398H haplotype is associated with conferring protection against developing PD. Here we report a study looking at the N551K and R1398H variants for the first time in the Malaysian population.

methodsCases (523) which conformed to the United Kingdom PD Brain Bank Criteria for PD were recruited through trained neurologists and age- and ethnically matched controls (491) were individuals free of any neurological disorder. The N551K and R1398H mutations were genotyped using the Taqman SNP genotyping assay.

resultsA significant protective association for N551K was found in those of Malay ancestry, with a protective trend seen for R1398H. A meta-analysis of Chinese individuals in this cohort with other published cohorts of Chinese ancestry indicated a significant protective role for N551K and R1398H.

conclusionThis study reports that the N551K-R1398H haplotype is also relevant to the Malaysian population, with a significant protective effect found in those of Malay and Chinese ancestries.

Indexed as

Genetic Predisposition to DiseaseMutationAsian PeopleCase-Control StudiesCohort StudiesFemaleFollow-Up StudiesGenotypeHaplotypesHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MalaysiaMaleMiddle AgedParkinson DiseasePrognosisLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanLRRK2N551KParkinson's diseaseR1398H

Identifiers

PMID31487119
PMCPMC6825847

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.