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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Evidence for an asthma risk locus on chromosome Xp: a replication linkage study
C Brasch-Andersen1, M U Møller, A Haagerup
1Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, and Clinical Pharmacology, Institute of Public Health, University of Southern Denmark, Odense, Denmark.
Allergy
|August 14, 2008
Summary
This study replicated previous findings on asthma genetic risk factors in Danish families. Evidence suggests a gene on chromosome Xp21 may contribute to asthma susceptibility, potentially explaining gender differences.
Area of Science:
- Genetics
- Pulmonology
- Human genetics
Background:
- Asthma is a complex genetic disorder with chronic airway inflammation.
- Identifying asthma genetic risk factors is challenging due to heterogeneity and environmental influences.
- Previous genome-wide scans identified candidate regions for asthma susceptibility genes, requiring replication.
Purpose of the Study:
- To replicate linkage to previously identified candidate regions for asthma susceptibility genes.
- To investigate linkage on chromosomes 1p, 5q, 6p, and Xp in an independent Danish sample.
Main Methods:
- A replication study was conducted using 136 Danish asthmatic sib pair families.
- Nonparametric multipoint linkage analyses were performed.
- Specific chromosomal regions (1p36.31-p36.21, 5q15-q23.2, 6p24.3-p22.3, and Xp22.31-p11.4) were investigated.
Main Results:
- Suggestive evidence for linkage to asthma was found on chromosome Xp21.2 (MLS 2.92).
- Linkage to chromosomes 1p36.31-p36.21, 5q15-q23.2, and 6p24.3-p22.3 could not be replicated.
- This is the first study to replicate linkage evidence for asthma on chromosome X.
Conclusions:
- The findings provide evidence for chromosome Xp21 harboring an asthma susceptibility gene in the Danish population.
- A susceptibility gene on chromosome X may contribute to observed gender differences in asthma prevalence.
- Further research is warranted to identify the specific gene(s) on chromosome X involved in asthma.
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