Tripathi Priya, Awasthi Shally, Prasad Rajendra, Ganesh Subramaniam
Department of Pediatrics, King George's Medical University, Lucknow, U.P., India.
Ann Hum Biol. 2012 Nov-Dec;39(6):479-83. doi: 10.3109/03014460.2012.716451. Epub 2012 Sep 18.
The aim of this study was to find out if the ADAM33 gene polymorphisms T+1(A>G), S+1(T>A) and V - 3(C>T) and their haplotypes play any role in genetic susceptibility to asthma.
Three hundred and ninety healthy controls and 386 asthmatic patients from Lucknow, India, were recruited for the study. Subjects were aged between 1-50 years. Among total recruited asthma cases, 95 (24.6%) had mild intermittent asthma, 235 (60.9%) had mild persistent asthma and 56 (14.5%) had moderate persistent asthma. Genotyping was carried out using the Polymerase Chain Reaction and Restriction Fragment Length polymorphism (PCRRFLP) method.
No significant differences in the genotype or allele frequencies of ADAM33 gene polymorphisms between asthmatic patients and healthy controls were found [p-value>0.05 (All the p-values were Bonferroni corrected)]. Also, no association of studied SNPs with the severity of the disease asthma was observed. However, the TTA haplotype was observed to be associated with asthma (OR = 3.4; 95%CI = 1.4-8.7; p = 0.002).
SNPs, T+1, S+1 and V - 3 do not individually confer any significant risk of asthma or its severity, but haplotype analysis suggests all three polymorphisms together play an important role in the disease of asthma.
本研究旨在探究ADAM33基因多态性T+1(A>G)、S+1(T>A)和V - 3(C>T)及其单倍型是否在哮喘遗传易感性中发挥作用。
本研究招募了来自印度勒克瑙的390名健康对照者和386名哮喘患者。受试者年龄在1至50岁之间。在总共招募的哮喘病例中，95例（24.6%）患有轻度间歇性哮喘，235例（60.9%）患有轻度持续性哮喘，56例（14.5%）患有中度持续性哮喘。采用聚合酶链反应和限制性片段长度多态性（PCRRFLP）方法进行基因分型。
在哮喘患者和健康对照者之间，未发现ADAM33基因多态性的基因型或等位基因频率存在显著差异[p值>0.05（所有p值均经Bonferroni校正）]。此外，未观察到所研究的单核苷酸多态性与哮喘疾病严重程度之间存在关联。然而，观察到TTA单倍型与哮喘相关（比值比=3.4；95%置信区间=1.4 - 8.7；p = 0.002）。
单核苷酸多态性T+1、S+1和V - 3单独并不赋予哮喘或其严重程度任何显著风险，但单倍型分析表明这三种多态性共同在哮喘疾病中发挥重要作用。
