Abstract
BackgroundSix asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian populations such as Chinese and Japanese. However, for PHF11, DPP10, and HLA-G, none of the association studies have been conducted in Asian populations. Therefore, the aim of the present study is to test the associations between these three positionally cloned genes and asthma or asthma-related phenotypes in a Chinese population.MethodsTwo, five, and two single nucleotide polymorphisms (SNPs) in the identified top regions of PHF11, DPP10, and HLA-G, respectively, were genotyped in 1183 independent samples. The study samples were selected based on asthma affectation status and extreme values in at least one of the following three asthma-related phenotypes: total serum immunoglobulin E levels, bronchial responsiveness test, and skin prick test. Both single SNP and haplotype analyses were performed.ResultsWe found that DPP10 was significantly associated with bronchial hyperresponsiveness (BHR) and BHR asthma after the adjustment for multiple testing; while the associations of PHF11 with positive skin reactions to antigens and the associations of HLA-G with BHR asthma were only nominally significant.ConclusionOur study is the first one to provide additional evidence that supports the roles of DPP10 in influencing asthma or BHR in a Chinese population.
Highlights
Six asthma candidate genes, ADAM metallopeptidase domain 33 (ADAM33), NPSR1, PHF11, dipeptidyl-peptidase 10 (DPP10), HLA-G, and cytoplasmic FMR1 interacting protein 2 (CYFIP2), located at different chromosome regions have been positionally cloned following the reported linkage studies
Laitinen et al identified NPSR1 as an asthma candidate gene and reported that levels of the NPSR1-B isoform were increased in airway smooth muscle cells and epithelial cells in asthma patients compared to healthy controls, and NPSR1 was up-regulated in a mouse model of ovalbumin-induced inflammation [5]
We examined the associations of polymorphisms in the identified top regions of PHF11, DPP10, and HLA-G with asthma and asthma-related phenotypes in a Chinese population, using a population-based study design
Summary
ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian populations such as Chinese and Japanese. The aim of the present study is to test the associations between these three positionally cloned genes and asthma or asthma-related phenotypes in a Chinese population. BMC Medical Genetics 2009, 10:123 http://www.biomedcentral.com/1471-2350/10/123 notypes following linkage studies [1,2,3,4,5,6] These genes span a wide range of functions, which were either unknown or would not have been considered to be implicated in the etiology of asthma before their discovery. CYFIP2 was positionally cloned by Noguchi et al [6] and has been implicated in Rac-1-mediated T cell adhesion [14]
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