A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population |
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| Authors: | Qiji Liu Yu Xia Wenjing Zhang Jisheng Li Pin Wang Huaichen Li Chunhua Wei Yaoqin Gong |
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| Affiliation: | (1) Department of Medical Genetics and Key Laboratory for Experimental Teratology of the Ministry of Education, Shandong University School of Medicine, Jinan, 250012 Shandong, PR, China;(2) Department of Respiratory Internal Medicine, Shandong Province Hospital, Jinan, 250001, PR, China;(3) Weifang Asthma Hospital, 264100 Weifang, PR, China |
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| Abstract: | Background Mutation in SPINK5 causes Netherton syndrome, a rare recessive skin disease that is accompanied by severe atopic manifestations including atopic dermatitis, allergic rhinitis, asthma, high serum IgE and hypereosinophilia. Recently, single nucleotide polymorphism (SNP) of the SPINK5 was shown to be significantly associated with atopy, atopic dermatitis, asthma, and total serum IgE. In order to determine the role of the SPINK5 in the development of asthma, a case-control study including 669 asthma patients and 711 healthy controls in Han Chinese was conducted. |
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