Department of Pediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India.
J Hum Genet. 2011 Mar;56(3):188-95. doi: 10.1038/jhg.2010.157. Epub 2010 Dec 23.
Asthma is the most common chronic disorder in childhood, and asthma exacerbation is an important cause of childhood morbidity and hospitalization. In the present study, the relationship between single-nucleotide polymorphisms (SNPs) of the ADAM33 gene and asthma in Indian children has been examined using a case-control study. Five SNPs of the ADAM33 gene, F+1(rs511898) G/A, S2 (rs528557) G/C, ST+4 (rs44707) A/C, ST+5 (rs597980) C/T and V4 (rs2787094) C/G, were analyzed in 211 asthma cases and 137 controls aged 1-15 years using the PCR-restriction fragment length polymorphism method. Data were statistically analyzed using the χ(2)-test and logistic regression model. Haplotype estimation and linkage disequilibrium were conducted using the expectation-maximization algorithm. The genotypes and allele frequencies of SNPs S2 and ST+5 of the ADAM33 gene were significantly associated with asthma risk (P = 0.020 - < 0.001), whereas F+1, ST+4, V4 homozygous mutant genotypes and mutant alleles were significantly associated with increased asthma risk (P = 0.031 - < 0.001). A positive association was also found with haplotypes AGCCT, GGACT and AGCCC (P = < 0.001, odds ratio (OR) = 6.10-6.50), whereas ACAGT, AGCGC, AGCGT, GCAGC and GCCGT showed protective association with asthma (P = 0.019-0.000, OR = 0.50-0.20). Taken together, out results suggest that ADAM33 gene polymorphisms may modify individual susceptibility to develop childhood asthma in the Indian population.
哮喘是儿童最常见的慢性疾病，哮喘恶化是儿童发病率和住院率的重要原因。在本研究中，采用病例对照研究的方法，研究了印度儿童 ADAM33 基因单核苷酸多态性（SNP）与哮喘的关系。使用 PCR-限制性片段长度多态性方法分析了 211 例哮喘病例和 137 例年龄在 1-15 岁的对照者 ADAM33 基因的 5 个 SNP（F+1(rs511898) G/A、S2(rs528557) G/C、ST+4(rs44707) A/C、ST+5(rs597980) C/T 和 V4(rs2787094) C/G）。使用卡方检验和逻辑回归模型对数据进行统计学分析。使用期望最大化算法进行单体型估计和连锁不平衡分析。ADAM33 基因 SNP S2 和 ST+5 的基因型和等位基因频率与哮喘风险显著相关（P=0.020-<0.001），而 F+1、ST+4、V4 纯合突变基因型和突变等位基因与哮喘风险增加显著相关（P=0.031-<0.001）。还发现 AGCCT、GGACT 和 AGCCC 单体型与哮喘呈正相关（P=<0.001，比值比（OR）=6.10-6.50），而 ACAGT、AGCGC、AGCGT、GCAGC 和 GCCGT 与哮喘呈保护相关（P=0.019-0.000，OR=0.50-0.20）。总之，我们的结果表明，ADAM33 基因多态性可能改变印度人群儿童哮喘的个体易感性。
