Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population

BMC Medical Genetics

Research Article

Fei Li¹  Jinming Gao¹  Lei Jiang¹  Youming Zhang²  Saffron A Willis-Owen² 

[1] Department of Respiratory Diseases, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, 100730, Beijing, China;Molecular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK;

关键词: Asthma;    Chronic Obstructive Pulmonary Disease;    Serum 25OHD;    25OHD Concentration;    Peking Union Medical College Hospital;   

DOI  :  10.1186/1471-2350-12-103

 received in 2011-03-15, accepted in 2011-08-03,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundAsthma 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. We have previously demonstrated that vitamin D status was associated with lung function in Chinese asthma patients. In this study, we tested whether polymorphisms of genes encoding for vitamin D receptor (VDR), vitamin D 25-hydroxylase (CYP2R1) and vitamin D binding protein (GC) were associated with asthma in the Chinese Han population.MethodsWe sequenced all 8 exons of VDR and all 5 exons of CYP2R1 in a Chinese case-control cohort of asthma consisting of 467 cases and 288 unrelated healthy controls. Two mutations were identified in these regions. These variants were specified as rs2228570 in exon 2 of VDR and rs12794714 in exon 1 of CYP2R1. We also genotyped two common polymorphisms in GC gene (rs4588 and rs7041) by a PCR-restriction fragment length polymorphism (RFLP) method. We analyzed the association between these 4 polymorphisms and asthma susceptibility and asthma-related traits.ResultsPolymorphic markers in VDR and CYP2R1 were not associated with asthma in the Chinese Han cohort. Importantly, variants in GC gene, which give rise to the two most common electrophoretic isoforms of the vitamin D binding protein, were associated with asthma susceptibility. Compared with isoform Gc1, Gc2 was significantly associated with the risk of asthma (OR = 1.35, 95% CI = 1.01-1.78 p = 0.006).ConclusionsThe results provide supporting evidence for association between GC variants and asthma susceptibility in the Chinese Han population.

【 授权许可】

Unknown   
© Li et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.