Evidence map›Paper›PMID 22326585›Full record

ArticleHuman immunology2012

DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status.

Karin Weiner Lachmi, Ling Lin, Birgitte Rahbek Kornum, Tom Rico, Betty Lo, Adi Aran, Emmanuel Mignot

Open access · greenAbstract read
In one paragraph

Article in Human immunology, 2012. 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
1.1field-weighted citation impact, top 24% 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

11 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicity.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  3. Article
  4. Article
  5. Association between human leukocyte antigen class II-DR-DQ and narcolepsy: a case control study.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. 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

7 authors at 1 institution in 1 country.

Karin Weiner LachmiCenter for Sleep Sciences, Stanford University, Palo Alto, CA 94304-5592, USA.
Ling Lin
Birgitte Rahbek Kornum
Tom Rico
Betty Lo
Adi Aran
Emmanuel Mignot
Palo Alto University · US

Funding

MOLECULAR &CELLULAR IMMUNOBIOLOGYT32AI007290 · NIAID · STANFORD UNIVERSITY · PI Sean Curtis Bendall, Olivia M Martinez · 1985 to 2026
$27.0M
SPECTRUM OF NARCOLEPSY AND ITS SYMPTOMSP50NS023724 · NINDS · STANFORD UNIVERSITY · PI MIGNOT, EMMANUEL J · 1986 to 2016
$18.9M
NIAID NIH HHS 5 T32 AI07290NIAID NIH HHS T32 AI007290NINDS NIH HHS P50 NS023724NINDS NIH HHS P50-NS23724
6 · The paper itself

Abstract

The association of narcolepsy-cataplexy, a sleep disorder caused by the loss of hypocretin/orexin neurons in the hypothalamus, with DQA1*01:02-DQB1*06:02 is one of the tightest known single-allele human leukocyte antigen (HLA) associations. In this study, we explored genome-wide expression in peripheral white blood cells of 50 narcolepsy versus 47 controls (half of whom were DQB1*06:02 positive) and observed the largest differences between the groups in the signal from HLA probes. Further studies of HLA-DQ expression (mRNA and protein in a subset) in 125 controls and 147 narcolepsy cases did not reveal any difference, a result we explain by the lack of proper control of allelic diversity in Affymetrix HLA probes. Rather, a clear effect of DQB1*06:02 allelic dosage on DQB1*06:02 mRNA levels (1.65-fold) and protein (1.59-fold) could be demonstrated independent of disease status. These results indicate that allelic dosage is transmitted into changes in heterodimer availability, a phenomenon that may explain the increased risk for narcolepsy in DQB1*06:02 homozygotes versus heterozygotes.

Indexed as

AllelesGene DosageAdultB-LymphocytesCase-Control StudiesFemaleGene ExpressionGene Expression ProfilingGenotypeHLA-DQ beta-ChainsHumansMaleNarcolepsyHLA-DQB1 antigenHLA-DQ beta-Chains

Identifiers

PMID22326585
PMCPMC3501142
OpenAlexW2024393092

What OpenQuestion holds

Textmetadata
LicenceTDM
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.