Evidence map›Paper›PMID 35524249›Full record

ArticleRespiratory research2022

Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population.

Yichuan Liu, Hui-Qi Qu, Jingchun Qu, Xiao Chang, Frank D Mentch, Kenny Nguyen, Lifeng Tian, Joseph Glessner, Patrick M A Sleiman, Hakon Hakonarson

Open access · goldAbstract read
In one paragraph

Article in Respiratory research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 31% 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, 9 citations in OpenAlex.

  1. Review
  2. The genetic landscape of pediatric postural orthostatic tachycardia syndrome.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2025
    Article
  3. Article
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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

10 authors at 2 institutions in 1 country.

Yichuan Liu *Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Hui-Qi Qu *Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Jingchun QuCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Xiao ChangCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Frank D MentchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Kenny NguyenCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Lifeng TianCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Joseph GlessnerCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Patrick M A SleimanCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu.
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAsthma is a complex condition largely attributed to the interactions among genes and environments as a heterogeneous phenotype. Obesity is significantly associated with asthma development, and genetic studies on obese vs. non-obese asthma are warranted.

methodsTo investigate asthma in the minority African American (AA) population with or without obesity, we performed a whole genome sequencing (WGS) study on blood-derived DNA of 4289 AA individuals, included 2226 asthma patients (1364 with obesity and 862 without obesity) and 2006 controls without asthma. The burden analysis of functional rare coding variants was performed by comparing asthma vs. controls and by stratified analysis of obese vs. non-obese asthma, respectively.

resultsAmong the top 66 genes with P < 0.01 in the asthma vs. control analysis, stratified analysis by obesity showed inverse correlation of natural logarithm (LN) of P value between obese and non-obese asthma (r = - 0.757, P = 1.90E-13). Five genes previously reported in a genome-wide association study (GWAS) on asthma, including TSLP, SLC9A4, PSMB8, IGSF5, and IKZF4 were demonstrated association in the asthma vs. control analysis. The associations of IKZF4 and IGSF5 are only associated with obese asthma; and the association of SLC9A4 is only observed in non-obese asthma. In addition, the association of RSPH3 (the gene is related to primary ciliary dyskinesia) is observed in non-obese asthma.

conclusionsThese findings highlight genetic heterogeneity between obese and non-obese asthma in patients of AA ancestry.

Indexed as

AsthmaGenome-Wide Association StudyBlack or African AmericanGenetic HeterogeneityGenetic Predisposition to DiseaseHumansObesityPolymorphism, Single NucleotideAsthmaComorbidityObesityRare coding variantsWhole genome sequencing (WGS)

Identifiers

PMID35524249
PMCPMC9078008
OpenAlexW4229052951

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Registered trials

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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.