Evidence map›Paper›PMID 28222097›Full record

ArticlePLoS genetics2017

A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

Vinicius M Fava, Jeremy Manry, Aurélie Cobat, Marianna Orlova, Nguyen Van Thuc, Milton O Moraes, Carolinne Sales-Marques, Mariane M A Stefani, Ana Carla P Latini, Andrea F Belone and 4 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
3.2field-weighted citation impact, top 8% 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

20 citing papers in PubMed, 34 citations in OpenAlex.

  1. Trial
  2. Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.Proceedings of the National Academy of Sciences of the United States of America · 2019
    Trial
  3. Article
  4. Article
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  7. Review
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  10. Review
  11. Human genetics of Buruli ulcer.Human genetics · 2020
    Review
  12. Review
  13. Human genetics of mycobacterial disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2018
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Age-Dependent Association ofFrontiers in immunology · 2017
    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

14 authors at 6 institutions in 5 countries.

Vinicius M FavaProgram in Infectious Diseases and Immunity in Global Health, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.ORCID 0000-0001-9142-1713
Jeremy ManryProgram in Infectious Diseases and Immunity in Global Health, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U.1163, Paris, France.
Marianna OrlovaProgram in Infectious Diseases and Immunity in Global Health, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Nguyen Van ThucHospital for Dermato-Venerology, Ho Chi Minh City, Vietnam.
Milton O MoraesLaboratório de Hanseníase, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.
Carolinne Sales-MarquesLaboratório de Hanseníase, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, Brazil.
Mariane M A StefaniTropical Pathology and Public Health Institute, Federal University of Goiás, Goiânia, Brazil.ORCID 0000-0002-3731-0817
Ana Carla P LatiniLauro de Souza Lima Institute, Bauru, Brazil.
Andrea F BeloneLauro de Souza Lima Institute, Bauru, Brazil.
Vu Hong ThaiHospital for Dermato-Venerology, Ho Chi Minh City, Vietnam.
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U.1163, Paris, France.
Alexandre AlcaïsLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U.1163, Paris, France.
Erwin SchurrProgram in Infectious Diseases and Immunity in Global Health, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
McGill University Health Centre · CAInserm · FRFundação Oswaldo Cruz · BRHCMC Hospital of Dermato Venereology · VNInstituto Lauro de Souza Lima · BRUniversidade Federal de Goiás · BR

Funding

CIHR
6 · The paper itself

Abstract

Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring with stepwise replication to identify risk factors for T1R. We discovered, replicated and validated T1R-specific associations with SNPs located in chromosome region 10p21.2. Combined analysis across the three independent samples resulted in strong evidence of association of rs1875147 with T1R (p = 4.5x10-8; OR = 1.54, 95% CI = 1.32-1.80). The T1R-risk locus was restricted to a lncRNA-encoding genomic interval with rs1875147 being an eQTL for the lncRNA. Since a genetic overlap between leprosy and inflammatory bowel disease (IBD) has been detected, we evaluated if the shared genetic control could be traced to the T1R endophenotype. Employing the results of a recent IBD GWAS meta-analysis we found that 10.6% of IBD SNPs available in our dataset shared a common risk-allele with T1R (p = 2.4x10-4). This finding points to a substantial overlap in the genetic control of clinically diverse inflammatory disorders.

Indexed as

Genetic Predisposition to DiseaseFemaleGene Expression RegulationGenome-Wide Association StudyHumansInflammatory Bowel DiseasesLeprosyMaleNerve DegenerationPolymorphism, Single NucleotideQuantitative Trait LociRisk FactorsRNA, Long NoncodingVietnamRNA, Long Noncoding

Identifiers

PMID28222097
PMCPMC5340414
OpenAlexW2589445491

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.