Department of Medical Genetics, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
BMC Med Genet. 2010 Jun 9;11:85. doi: 10.1186/1471-2350-11-85.
Matrix metalloproteinase (MMP) is involved in the upper airway remodeling process. We hypothesized that genetic variants of the MMP-9 gene are associated with cases of chronic rhinosinusitis with nasal polyposis.
We conducted a case-control study where 203 cases of chronic rhinosinusitis with nasal polyposis and 730 controls were enrolled. Three tagging single nucleotide polymorphisms (SNPs) and one promoter functional SNP rs3918242 were selected. Hardy-Weinberg equilibrium (HWE) was tested for each SNP, and genetic effects were evaluated according to three inheritance modes. Haplotype analysis was also performed. Permutation was used to adjust for multiple testing.
All four SNPs were in HWE. The T allele of promoter SNP rs3918242 was associated with chronic rhinosinusitis with nasal polyposis under the dominant (nominal p = 0.023, empirical p = 0.022, OR = 1.62) and additive models (nominal p= 0.012, empirical p = 0.011, OR = 1.60). The A allele of rs2274756 has a nominal p value of 0.034 under the dominant model and 0.020 under the additive model. Haplotype analysis including the four SNPs showed a global p value of 0.015 and the most significant haplotype had a p value of 0.0045. We did not see any SNP that was more significant in the recurrent cases.
We concluded that MMP-9 gene polymorphisms may influence susceptibility to the development of chronic rhinosinusitis with nasal polyposis in Chinese population.
基质金属蛋白酶（MMP）参与了上呼吸道重塑过程。我们假设 MMP-9 基因的遗传变异与慢性鼻-鼻窦炎伴鼻息肉有关。
我们进行了一项病例对照研究，共纳入 203 例慢性鼻-鼻窦炎伴鼻息肉患者和 730 例对照。选择了三个标签单核苷酸多态性（SNP）和一个启动子功能 SNP rs3918242。对每个 SNP 进行 Hardy-Weinberg 平衡（HWE）检验，并根据三种遗传模式评估遗传效应。还进行了单体型分析。采用置换检验进行多重检验校正。
所有四个 SNP 均符合 HWE。启动子 SNP rs3918242 的 T 等位基因在显性（名义 p=0.023，经验 p=0.022，OR=1.62）和加性模型（名义 p=0.012，经验 p=0.011，OR=1.60）下与慢性鼻-鼻窦炎伴鼻息肉相关。rs2274756 的 A 等位基因在显性模型下的名义 p 值为 0.034，在加性模型下的名义 p 值为 0.020。包含四个 SNP 的单体型分析显示总体 p 值为 0.015，最显著的单体型的 p 值为 0.0045。我们没有发现任何 SNP 在复发性病例中更为显著。
我们得出结论，MMP-9 基因多态性可能影响中国人群慢性鼻-鼻窦炎伴鼻息肉的发病易感性。
