Evidence map›Paper›PMID 22043116›Full record

SynthesisSleep2011

A review of genetic association studies of obstructive sleep apnea: field synopsis and meta-analysis.

Vasileia Varvarigou, Issa J Dahabreh, Atul Malhotra, Stefanos N Kales

Abstract readMeta-AnalysisSystematic Review
In one paragraph

Synthesis in Sleep, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 5 pooled it
–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

48 citing papers in PubMed, 5 syntheses or guidelines pooled it.

  1. Pooled it
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  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Review
  7. Article
  8. Sleep science (Sao Paulo, Brazil) · 2025
    Article
  9. Article
  10. Review
  11. International Consensus Statement on Obstructive Sleep Apnea.International forum of allergy & rhinology · 2023
    Review
  12. Review
  13. Rare Genetic Variants Provide Protection for Obstructive Sleep Apnea.American journal of respiratory and critical care medicine · 2022
    Article
  14. Article
  15. Combined Association BetweenNature and science of sleep · 2022
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Vasileia VarvarigouDepartment of Environmental and Occupational Medicine & Epidemiology, Harvard School of Public Health, Boston, MA, USA.
Issa J Dahabreh
Atul Malhotra
Stefanos N Kales

Funding

Wakefulness and Forebrain Activation by Orexin NeuronsP01HL095491 · NHLBI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI MOCHIZUKI, TAKATOSHI · 2010 to 2019
$25.1M
Single Motor Unit Genioglossus Recordings to Understand Sleep Apnea PathogenesisR01HL085188 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MALHOTRA, ATUL · 2008 to 2018
$3.5M
Mechanisms Underlying the Aging Predisposition to Obstructive Sleep ApneaR01HL090897 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MALHOTRA, ATUL · 2009 to 2012
$1.8M
Assessment of Upper Airway Mechanics Using Newer EMG TechniquesK24HL093218 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MALHOTRA, ATUL · 2009 to 2013
$857k
NHLBI NIH HHS K24 HL093218NHLBI NIH HHS P01 HL095491NHLBI NIH HHS R01 HL085188NHLBI NIH HHS R01 HL090897
6 · The paper itself

Abstract

STUDY

objectivesObstructive sleep apnea (OSA) is a multifactorial disorder with a heritable component. We performed a field synopsis of genetic association studies of OSA to synthesize the available evidence.

designSystematic literature review and meta-analysis.

settingGenetic association studies. PATIENTS OR

participantsWe searched multiple databases to identify studies of non-HLA genetic associations in OSA. We assessed the power of the primary studies to identify odds ratios (OR) in a plausible range and performed random effects meta-analyses for genetic associations investigated by at least 3 studies. We explored the consistency of the findings between population- and family-based studies.

interventionsNone MEASUREMENTS AND

resultsWe identified a total of 31 population-based case-control studies reporting allele-frequency data on 48 polymorphism-OSA associations. Sample sizes were generally small (median number of cases = 102, 25th-75th percentile = 55-151; median number of controls = 79, 25th-75th percentile = 58-137), and genetic effects were moderate in magnitude (median OR = 1.15, 25th-75th percentile = 0.89-1.40). Studies were severely underpowered to detect ORs as high as 2; only eight comparisons (in 6 studies) had more than 90% power to identify a genetic effect of that magnitude at its current sample size. Four genetic associations had been investigated in ≥ 3 studies: TNFA (-308 A/G) rs1800629, ACE I/D, APOE ε2, and APOE ε4. Only TNFA rs1800629 was significantly associated with OSA under an allele frequency model (3 studies, odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.26-2.61). These results were robust to alternative genetic models; findings for APOE variants were consistent with those from family-based studies.

conclusionsThe developing field of OSA genetics is currently dominated by small and underpowered investigations. Promising findings regarding TNFA rs1800629 need to be replicated in larger studies using more comprehensive genotyping methods.

Indexed as

Genetic Association StudiesApolipoprotein E2Apolipoprotein E4HumansPeptidyl-Dipeptidase APolymorphism, GeneticSleep Apnea, ObstructiveTumor Necrosis Factor-alphaApolipoprotein E2Apolipoprotein E4Peptidyl-Dipeptidase ATumor Necrosis Factor-alphameta-analysispolymorphismSleep apneasystematic review

Identifiers

PMID22043116
PMCPMC3198201

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.