Evidence map›Paper›PMID 23052943›Full record

ArticleHuman genetics2013

Linkage disequilibrium pattern and age-at-diagnosis are critical for replicating genetic associations across ethnic groups in leprosy.

Andrea Alter, Vinicius Medeiros Fava, Nguyen Thu Huong, Meenakshi Singh, Marianna Orlova, Nguyen Van Thuc, Kiran Katoch, Vu Hong Thai, Nguyen Ngoc Ba, Laurent Abel and 3 more

Abstract read
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In one paragraph

Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
1.6field-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

25 citing papers in PubMed, 39 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Investigation ofBiomedicines · 2023
    Article
  5. Review
  6. Review
  7. Reply to Zhang et al.: The differential role of LRRK2 variants in nested leprosy phenotypes.Proceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  8. Article
  9. TheScience signaling · 2020
    Article
  10. Article
  11. Human genetics of mycobacterial disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2018
    Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Age-Dependent Association ofFrontiers in immunology · 2017
    Article
  17. Article
  18. Review
  19. Article
  20. Review
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

13 authors at 8 institutions in 6 countries.

Andrea AlterMcGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
Vinicius Medeiros Fava
Nguyen Thu Huong
Meenakshi Singh
Marianna Orlova
Nguyen Van Thuc
Kiran Katoch
Vu Hong Thai
Nguyen Ngoc Ba
Laurent Abel
Narinder Mehra
Alexandre Alcaïs
Erwin Schurr
HCMC Hospital of Dermato Venereology · VNAll India Institute of Medical Sciences · INMcGill University · CAHôpital Cochin · FRMcGill University Health Centre · CAMontreal General Hospital · CANational JALMA Institute for Leprosy & Other Mycobacterial Diseases · INUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

One of the persistent challenges of genetic association studies is the replication of genetic marker-disease associations across ethnic groups. Here, we conducted high-density association mapping of PARK2/PACRG SNPs with leprosy and identified 69 SNPs significantly associated with leprosy in 198 single-case Vietnamese leprosy families. A total of 56 associated SNPs localized to the overlapping promoter regions of PARK2/PACRG. For this region, multivariate analysis identified four SNPs belonging to two major SNP bins (rs1333955, rs7744433) and two single SNP bins (rs2023004, rs6936895) that capture the combined statistical evidence (P = 1.1 × 10(-5)) for association among Vietnamese patients. Next, we enrolled a case-control sample of 364 leprosy cases and 370 controls from Northern India. We genotyped all subjects for 149 SNPs that capture >80 % of the genetic variation in the Vietnamese sample and found 24 SNPs significantly associated with leprosy. Multivariate analysis identified three SNPs (rs1333955, rs9356058 and rs2023004) that capture the association with leprosy (P < 10(-8)). Hence, two SNPs (rs1333955 and rs2023004) were replicated by multivariate analysis between both ethnic groups. Marked differences in the linkage disequilibrium pattern explained some of the differences in univariate analysis between the two ethnic groups. In addition, the strength of association for two promoter region SNP bins was significantly stronger among young leprosy patients in the Vietnamese sample. The same trend was observed in the Indian sample, but due to the higher age-at-diagnosis of the patients the age effect was less pronounced.

Indexed as

AdolescentAdultAge of OnsetAsian PeopleCase-Control StudiesChildEthnicityFemaleGenetic Association StudiesHumansIndiaIntronsLeprosyLinkage DisequilibriumMaleMicrofilament ProteinsMicrofilament ProteinsMolecular ChaperonesPACRG protein, humanparkin proteinUbiquitin-Protein Ligases

Identifiers

PMID23052943
OpenAlexW2071643063

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Read underepoch 390

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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.