A functional polymorphism in the <it>SPINK5 </it>gene is associated with asthma in a Chinese Han Population
<p>Abstract</p> <p>Background</p> <p>Mutation in <it>SPINK5 </it>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 hypereosi...
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2009-06-01T00:00:00Z.
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| 001 | doaj_b1d3eef7b6b84c2fa6872d9f2a2533c5 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Li Huaichen |e author |
| 700 | 1 | 0 | |a Wang Pin |e author |
| 700 | 1 | 0 | |a Li Jisheng |e author |
| 700 | 1 | 0 | |a Zhang Wenjing |e author |
| 700 | 1 | 0 | |a Xia Yu |e author |
| 700 | 1 | 0 | |a Liu Qiji |e author |
| 700 | 1 | 0 | |a Wei Chunhua |e author |
| 700 | 1 | 0 | |a Gong Yaoqin |e author |
| 245 | 0 | 0 | |a A functional polymorphism in the <it>SPINK5 </it>gene is associated with asthma in a Chinese Han Population |
| 260 | |b BMC, |c 2009-06-01T00:00:00Z. | ||
| 500 | |a 10.1186/1471-2350-10-59 | ||
| 500 | |a 1471-2350 | ||
| 520 | |a <p>Abstract</p> <p>Background</p> <p>Mutation in <it>SPINK5 </it>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 <it>SPINK5 </it>was shown to be significantly associated with atopy, atopic dermatitis, asthma, and total serum IgE. In order to determine the role of the <it>SPINK5 </it>in the development of asthma, a case-control study including 669 asthma patients and 711 healthy controls in Han Chinese was conducted.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>Our findings indicate that the -206G>A polymorphism in the <it>SPINK5 </it>is associated with asthma susceptibility in a Chinese Han population.</p> | ||
| 546 | |a EN | ||
| 690 | |a Internal medicine | ||
| 690 | |a RC31-1245 | ||
| 690 | |a Genetics | ||
| 690 | |a QH426-470 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n BMC Medical Genetics, Vol 10, Iss 1, p 59 (2009) | |
| 787 | 0 | |n http://www.biomedcentral.com/1471-2350/10/59 | |
| 787 | 0 | |n https://doaj.org/toc/1471-2350 | |
| 856 | 4 | 1 | |u https://doaj.org/article/b1d3eef7b6b84c2fa6872d9f2a2533c5 |z Connect to this object online. |