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Updated: Jul 7, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
A polymorphism in the NPPA gene associates with asthma
J J Lima1, S Mohapatra, H Feng
1Pharmacogenetics Center, Nemours Children's Clinic, Jacksonville, FL 32207, USA. Jlima@nemours.org
Summary
The NPPA gene, specifically the C allele of rs5067, is linked to a reduced risk of asthma. This finding suggests NPPA may be a key susceptibility gene for asthma development.
Area of Science:
- Genetics
- Pulmonology
- Immunology
Background:
- Atrial natriuretic peptide (ANP) influences lung function and allergic inflammation in asthma.
- The NPPA gene, encoding ANP, is located in a chromosomal region (1p36) previously associated with asthma.
Purpose of the Study:
- To investigate the association between asthma and four common single nucleotide polymorphisms (SNPs) in the NPPA gene.
- SNPs examined include rs13305986 (promoter), rs5063 (Exon 1), rs5065 (Exon 3), and rs5067 (3'UT region).
Main Methods:
- A case-control study design was employed using White participants.
- Two cohorts were utilized: a screening cohort (336 asthma cases, 154 controls) and a replicate cohort (172 asthma cases, 115 controls).
- Adjusted odds ratios (OR) were calculated using logistic regression, with a significance threshold of P=0.0167.
Main Results:
- The C allele of rs5067 demonstrated a significant association with reduced asthma risk in both screening (OR=0.5) and replicate (OR=0.24) cohorts.
- The C allele of rs5065 showed an association with asthma in the screening cohort only.
- The population-attributable risk for asthma associated with the rs5067 C allele was 23.3%.
Conclusions:
- The C allele of rs5067 significantly reduces asthma risk by 50% and 76% in the respective cohorts.
- The NPPA gene emerges as a potential important susceptibility gene for asthma.
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