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.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Chakraborty S,Dakle P,Sinha A,Vishweswaraiah S,Nagori A,Salimath S,Prakash YS,Lodha R,Kabra SK,Ghosh B,Faruq M,Mahesh PA,Agrawal Adoi
10.1038/s41598-019-54718-6subject
Has Abstractpub_date
2019-12-13 00:00:00pages
19029issue
1issn
2045-2322pii
10.1038/s41598-019-54718-6journal_volume
9pub_type
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