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The IL12B gene is associated with asthma
Adrienne G Randolph1, Christoph Lange, Edwin K Silverman
1Channing Laboratory, Brigham and Women's Hospital, Department of Anesthesia, Children's Hospital, and Harvard Medical School, Boston, MA, USA. adrienne.randolph@tch.harvard.edu
American Journal of Human Genetics
|August 24, 2004
Summary
The IL12B gene may play a role in childhood asthma. Specific genetic variations in IL12B were linked to asthma and atopy in children and adults, suggesting it is an important asthma gene.
Area of Science:
- Genetics
- Immunology
- Respiratory Medicine
Background:
- The Interleukin 12B (IL12B) gene encodes a subunit of an immunomodulatory cytokine.
- Asthma is a complex respiratory condition with a significant genetic component.
Purpose of the Study:
- To investigate the association between polymorphisms in the IL12B gene and asthma.
- To identify specific IL12B gene variants linked to asthma susceptibility and severity.
Main Methods:
- Genotyping of six haplotype-tagging polymorphisms in the IL12B gene in 708 children and their parents from the Childhood Asthma Management Program (CAMP).
- Utilizing family-based association tests (FBAT) including haplotype (HBAT) and phenotype (PBAT) options.
- Replication of positive associations in an independent case-control study of adult asthmatics.
Main Results:
- Undertransmission of the A allele of the IL12B G4237A polymorphism to asthmatic white children (P=.0008).
- Significant association of IL12B haplotypes with asthma affection status (P=.009).
- Association of IL12B polymorphisms with atopy and asthma severity phenotypes in white populations, replicated in adults.
Conclusions:
- The IL12B gene is implicated as a potential asthma susceptibility gene.
- Specific IL12B polymorphisms and haplotypes are associated with asthma and related phenotypes.
- Further research into IL12B's role in asthma pathogenesis is warranted.