Evidence map›Paper›PMID 31836740›Full record

ArticleScientific reports2019

Genetic variations in olfactory receptor gene OR2AG2 in a large multigenerational family with asthma.

Samarpana Chakraborty, Pushkar Dakle, Anirban Sinha, Sangeetha Vishweswaraiah, Aditya Nagori, Shivalingaswamy Salimath, Y S Prakash, R Lodha, S K Kabra, Balaram Ghosh and 3 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.4field-weighted citation impact, top 22% 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

9 citing papers in PubMed, 16 citations in OpenAlex.

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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

13 authors at 5 institutions in 2 countries.

Samarpana ChakrabortyCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
Pushkar DakleCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
Anirban SinhaCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.ORCID http://orcid.org/0000-0002-4146-9687
Sangeetha VishweswaraiahGenetics and Genomics Lab, Department of Genetics and Genomics, University of Mysore, Manasagangotri, Mysuru, Karnataka, India.
Aditya NagoriCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
Shivalingaswamy SalimathDepartment of Pulmonary Medicine, JSS Medical College, JSSAHER, Mysore, Karnataka, India.
Y S PrakashDepartments of Anesthesiology, Physiology and Biomedical Engineering, Mayo Clinic, Rochester, Minnesota, USA.
R LodhaDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
S K KabraDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Balaram GhoshCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
Mohammed FaruqCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
P A MaheshDepartment of Pulmonary Medicine, JSS Medical College, JSSAHER, Mysore, Karnataka, India.
Anurag AgrawalCentre of Excellence for Translational Research in Asthma and Lung Diseases, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India. a.agrawal@igib.res.in.
Institute of Genomics and Integrative Biology · INAll India Institute of Medical Sciences · INJSS Medical College and Hospital · INMayo Clinic · USUniversity of Mysore · IN

Funding

NEURAL REGULATION OF AIRWAYS DURING POSTNATAL MATURATIONR01HL056470 · NHLBI · MAYO CLINIC ROCHESTER · PI PRAKASH, Y. S. · 1996 to 2025
$10.5M
Neurotrophins in the LungR01HL088029 · NHLBI · MAYO CLINIC ROCHESTER · PI PRAKASH, Y. S. · 2009 to 2022
$5.9M
NHLBI NIH HHS R01 HL056470NHLBI NIH HHS R01 HL088029Wellcome Trust
6 · The paper itself

Abstract

It is estimated from twin studies that heritable factors account for at-least half of asthma-risk, of which genetic variants identified through population studies explain only a small fraction. Multi-generation large families with high asthma prevalence can serve as a model to identify highly penetrant genetic variants in closely related individuals that are missed by population studies. To achieve this, a four-generation Indian family with asthma was identified and recruited for examination and genetic testing. Twenty subjects representing all generations were selected for whole genome genotyping, of which eight were subjected to exome sequencing. Non-synonymous and deleterious variants, segregating with the affected individuals, were identified by exome sequencing. A prioritized deleterious missense common variant in the olfactory receptor gene OR2AG2 that segregated with a risk haplotype in asthma, was validated in an asthma cohort of different ethnicity. Phenotypic tests were conducted to verify expected deficits in terms of reduced ability to sense odors. Pathway-level relevance to asthma biology was tested in model systems and unrelated human lung samples. Our study suggests that OR2AG2 and other olfactory receptors may contribute to asthma pathophysiology. Genetic studies on large families of interest can lead to efficient discovery.

Indexed as

Genetic Predisposition to DiseaseGenetic VariationAsthmaCase-Control StudiesCohort StudiesExhalationExome SequencingFamilyFemaleHumansInterleukin-13LungMaleMiddle AgedNitric OxidePedigreeInterleukin-13Nitric OxideOR2AG2 protein, humanReceptors, OdorantRNA, Messenger

Identifiers

PMID31836740
PMCPMC6911056
OpenAlexW2995834064

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.