Evidence map›Paper›PMID 33421092›Full record

ArticleClinical and experimental immunology2021

Behçet disease, new insights in disease associations and manifestations: a next-generation sequencing study.

M Elfishawi, G Mossallam, D G Augusto, G Montero-Martin, H de Bruin, L Van de Pasch, P J Norman, E Rozemuller, M Fernandez-Vina, A Abrudescu and 3 more

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

Article in Clinical and experimental immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 15% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. 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

13 authors at 8 institutions in 3 countries.

M ElfishawiDivision of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN, USA.ORCID 0000-0002-4795-8991
G MossallamBMT Lab Unit, Clinical Pathology Deptartment, National Cancer Institute, Cairo University, Cairo, Egypt.
D G AugustoDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
G Montero-MartinDepartment of Pathology, Stanford University School of Medicine, Palo Alto, CA, USA.
H de BruinGenDx, Utrecht, the Netherlands.
L Van de PaschGenDx, Utrecht, the Netherlands.
P J NormanDivision of Personalized Medicine and Department of Immunology and Microbiology, University of Colorado School of Medicine, Denver, CO, USA.
E RozemullerGenDx, Utrecht, the Netherlands.
M Fernandez-VinaDepartment of Pathology, Stanford University School of Medicine, Palo Alto, CA, USA.
A AbrudescuDepartment of Medicine, New York City Health + Hospitals: Queens, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
J A HollenbachDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
K ZakyRheumatology and Rehabilitation, Faculty of Medicine, Al-Azhar University, Cairo, Egypt.
S ElfishawiBMT Lab Unit, Clinical Pathology Deptartment, National Cancer Institute, Cairo University, Cairo, Egypt.
Genmab (Netherlands) · NLCairo University · EGStanford University · USUniversity of California, San Francisco · USAl-Azhar University · EGMayo Clinic in Arizona · USNew York City Health and Hospitals Corporation · USUniversity of Colorado Denver · US

Funding

Insights Into Immune-Related Diseases Born from Population GenomicsU01AI090905 · NIAID · UNIVERSITY OF COLORADO DENVER · PI Paul John Norman · 2010 to 2026
$10.9M
NIAID NIH HHS U01 AI090905This work was made possible through collaboration during the 17th International Histocompatibility and Immunogenetics Workshop (IHIWS), in the disease association component, and with support from GenDx Inc, Utrecht, The Netherlands.
6 · The paper itself

Abstract

Behçet disease is a multi-system disease associated with human leukocyte antigen (HLA) class I polymorphism. High-resolution next-generation sequencing (NGS) with haplotype analysis has not been performed previously for this disease. Sixty Egyptian patients diagnosed according to the International Study Group (ISG) criteria for Behçet disease and 160 healthy geographic and ethnic-matched controls were genotyped for HLA class I loci (HLA-A, B, C). For HLA class II loci (DRB1, DRB3/4/5, DQA1, DQB1, DPA1, DPB1), 40 control samples were genotyped. High-resolution HLA genotyping was performed using NGS and the results were analyzed. Clinical manifestations were oral ulcers (100%), genital ulcers (100%), eye (55%) and neurological (28%) and vascular involvement (35%). HLA-B*51:08 [odds ratio (OR) = 19·75, 95% confidence interval (CI) = 6·5-79; P < 0·0001], HLA-B*15:03 (OR = 12·15, 95% CI = 3·7-50·7; P < 0·0001), HLA-C*16:02 (OR = 6·53, 95% CI = 3-14; P < 0·0001), HLA-A*68:02 (OR = 3·14, 95% CI = 1·1-8·9; P < 0·01) were found to be associated with Behçet disease, as were HLA-DRB1*13:01 and HLA-DQB1*06:03 (OR = 3·39, 95% CI = 0·9-18·9; P = 0·04 for both). By contrast, HLA-A*03:01 (OR = 0·13, 95% CI = 0-0·8; P = 0·01) and HLA-DPB1*17:01 were found to be protective (OR = 0·27, 95% CI = 0·06-1·03; P = 0·02). We identified strong linkage disequilibrium between HLA-B*51:08 and C*16:02 and A*02:01 in a haplotype associated with Behçet disease. HLA-B*51:08 was significantly associated with legal blindness (OR = 2·98, 95% CI = 1·06-8·3; P = 0·01). In Egyptian Behçet patients, HLA-B*51:08 is the most common susceptibility allele and holds poor prognosis for eye involvement.

Indexed as

AdultAllelesBehcet SyndromeEgyptFemaleGene FrequencyGenotypeHaplotypesHigh-Throughput Nucleotide SequencingHLA AntigensHLA-B AntigensHLA-C AntigensHLA-D AntigensHumansMaleMiddle AgedHLA AntigensHLA-B AntigensHLA-C AntigensHLA-D AntigensBehçet diseaseepidemiologygeneticsnext-generation sequencingsusceptibility

Identifiers

PMID33421092
PMCPMC7944360
OpenAlexW3119058253

What OpenQuestion holds

Textmetadata
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.