Send to

Choose Destination
Mutat Res. 2010 Aug 7;690(1-2):89-94. doi: 10.1016/j.mrfmmm.2010.05.005. Epub 2010 May 27.

Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism.

Author information

Center for Perinatal Pediatric and Environmental Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA.


Asthma is a chronic inflammatory disease of the lungs which affects more than 6.5 million American children. A family-based genome-wide association study of copy-number variation identified an association between decreased copy-number at TCRgamma and childhood allergic asthma. TCRgamma encodes the T-cell receptor gamma glycoprotein, a cell-surface protein found on T-cells and involved in cell-mediated immunity. Using quantitative real-time PCR, we sought to determine if copy-number variation at TCRalpha, TCRbeta or TCRgamma was associated with childhood allergic asthma in an independent cohort of 94 cases and 455 controls using DNA from buccal swabs. Copy-number variation at these loci is well-known, but appears to be dominated by somatic mutations. Genotyping results indicated that copy-number variants at these genes are largely somatic mutations, as inheritance did not show Mendelian consistency. In these mosaic cell populations, copy-number was significantly reduced among asthmatic children at TCRgamma (p=0.0199), but was not associated at TCRalpha or TCRbeta (p=0.7972 and 0.8585, respectively). These findings support the association between reduced copy-number at TCRgamma and childhood allergic asthma. Further work is needed to resolve whether reduced copy-number at TCRgamma predisposes individuals to asthma, or whether deletion of this gene is a somatic response to the disease.

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center