A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population Export

@article{citeulike:4934867, abstract = {Background:\&\#10;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.\&\#10;Methods:\&\#10;Using PCR-RFLP assay, we genotyped one promoter SNP, -206G>A, and four nonsynonymous SNPs, 1103A>G (Asn368Ser), 1156G>A (Asp386Asn), 1258G>A (Glu420Lys), and 2475G>T (Glu825Asp). Also, we analyzed the functional significance of -206G>A using the luciferase reporter assay and electrophoresis mobility shift assay. Results: we found that the G allele at SNP -206G>A was associated with increased asthma susceptibility in our study population (p=0.002, odds ratio 1.34, 95\% confidence interval 1.11-1.60). There was no significant association between any of four nonsynonymous SNPs and asthma. The A allele at -206G>A has a significantly higher transcriptional activity than the G allele. Electrophoresis mobility shift assay also showed a significantly higher binding efficiency of nuclear protein to the A allele compared with the G allele.\&\#10;Conclusion:\&\#10;Our findings indicate that the -206G>A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population.}, author = {Liu, Qiji and Xia, Yu and Zhang, Wenjing and Li, Jisheng and Wang, Pin and Li, Huaichen and Wei, Chunhua and Gong, Yaoqin}, citeulike-article-id = {4934867}, citeulike-linkout-0 = {http://dx.doi.org/10.1186/1471-2350-10-59}, doi = {10.1186/1471-2350-10-59}, issn = {1471-2350}, journal = {BMC Medical Genetics}, month = {June}, pages = {59+}, posted-at = {2009-06-23 17:25:42}, title = {A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population}, url = {http://dx.doi.org/10.1186/1471-2350-10-59}, volume = {10}, year = {2009} }

TY - JOUR ID - citeulike:4934867 L3 - citeulike-article-id:4934867 N2 - 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.
Methods:
Using PCR-RFLP assay, we genotyped one promoter SNP, -206G>A, and four nonsynonymous SNPs, 1103A>G (Asn368Ser), 1156G>A (Asp386Asn), 1258G>A (Glu420Lys), and 2475G>T (Glu825Asp). Also, we analyzed the functional significance of -206G>A using the luciferase reporter assay and electrophoresis mobility shift assay. Results: we found that the G allele at SNP -206G>A was associated with increased asthma susceptibility in our study population (p=0.002, odds ratio 1.34, 95% confidence interval 1.11-1.60). There was no significant association between any of four nonsynonymous SNPs and asthma. The A allele at -206G>A has a significantly higher transcriptional activity than the G allele. Electrophoresis mobility shift assay also showed a significantly higher binding efficiency of nuclear protein to the A allele compared with the G allele.
Conclusion:
Our findings indicate that the -206G>A polymorphism in the SPINK5 is associated with asthma susceptibility in a Chinese Han population. JF - BMC Medical Genetics SN - 1471-2350 TI - A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population VL - 10 SP - 59 AU - Liu, Qiji AU - Xia, Yu AU - Zhang, Wenjing AU - Li, Jisheng AU - Wang, Pin AU - Li, Huaichen AU - Wei, Chunhua AU - Gong, Yaoqin PY - 2009/06/17/ UR - http://dx.doi.org/10.1186/1471-2350-10-59 ER -