RT Journal Article SR Electronic T1 Vitamin D binding protein variants associate asthma susceptibility in a Chinese Han population JF European Respiratory Journal JO Eur Respir J FD European Respiratory Society SP p434 VO 38 IS Suppl 55 A1 Fei Li A1 Saffron Willis-Owen A1 Youming Zhang A1 Jinming Gao YR 2011 UL http://erj.ersjournals.com/content/38/Suppl_55/p434.abstract AB Background: Asthma is a genetically heterogeneous disease. Polymorphisms of genes encoding components of the vitamin D pathway have been reported to associate with the risk of asthma. Previously, we demonstrated that the vitamin D status in serum was associated with lung function in Chinese asthma patients. In this study, we tested whether polymorphisms of vitamin D receptors (VDR), vitamin D 25-hydroxylase (CYP2R1) and vitamin D binding protein (GC) were associated with asthma in a Han Chinese Population.Methods: We sequenced 8 exons of VDR and all 5 exons of CYP2R1 and identified only two mutations on the coding regions in a Han Chinese case-control cohort of asthma. These two polymorphism markers were rs2228570 on exon 4 of VDR and rs12794714 on exon 1 of CYP2R1. We then genotyped the two markers in the cohort that consisted of 467 asthma patients and 288 unrelated healthy. We also genotyped two common polymorphism marker rs4588 and rs7041 in vitamin D binding protein (group-specific component, GC) gene by a PCR–restriction fragment length polymorphism (RFLP) method. We analyzed the association between these polymorphisms and asthma susceptibility and asthma relevant traits.Results: Polymorphism markers in VDR and CYP2R1 were not associated with asthma in the Han Chinese cohort. The variants of vitamin D binding proteins were associated with asthma susceptibility. Compared with Gc1, Gc2 was strongly associated with the risk of asthma (OR=1.35, 95% CI= 1.01-1.78 p=0.006).Conclusions: The results provide supporting evidence for association between GC variants and asthma susceptibility in the Chinese Han population.