Sinha Shweta, Singh Jagtar, Jindal Surinder Kumar, Birbian Niti, Singla Neha
Department of Biotechnology, Panjab University, Chandigarh, India.
Lung. 2014 Oct;192(5):685-91. doi: 10.1007/s00408-014-9605-6. Epub 2014 Jun 14.
CHIT1 is expressed by pulmonary macrophages, which is typically the site of entry for many environmental fungi that may increase the risk of pulmonary fungal infection and lead to hypersensitivity. The conserved expression of this gene in humans suggests its physiological importance in the mammalian lung.
The present study was conducted with a total of 964 subjects, including 483 healthy controls and 481 asthma patients. DNA samples were extracted from blood, and the genotyping was done using polymerase chain reaction method.
Statistical analysis revealed that the 24 bp duplication in CHIT1 gene polymorphism shows highly significant association in heterozygous (wild/dup) genotype with OR 1.74, 95 % CI (1.29-2.36), and p = 0.000. However, the homozygous mutant genotype (dup/dup) was found to be non-significant with OR 1.06, 95% CI (0.69-1.63), and p = 0.786. The combination of both wild/dup and dup/dup was also found to be highly significant with OR 1.57, 95% CI (1.18-2.11), and p = 0.002.
This is the first study conducted in India which reports a significant association between 24 bp duplication in CHIT1 gene polymorphism and asthma in the studied North Indian population.
几丁质酶1（CHIT1）由肺巨噬细胞表达，肺巨噬细胞通常是许多环境真菌的进入部位，这些真菌可能会增加肺部真菌感染的风险并导致超敏反应。该基因在人类中的保守表达表明其在哺乳动物肺中的生理重要性。
本研究共纳入964名受试者，包括483名健康对照者和481名哮喘患者。从血液中提取DNA样本，并使用聚合酶链反应方法进行基因分型。
统计分析显示，CHIT1基因多态性中的24 bp重复在杂合子（野生型/重复型）基因型中显示出高度显著的相关性，比值比（OR）为1.74，95%置信区间（CI）为（1.29 - 2.36），p = 0.000。然而，纯合突变基因型（重复型/重复型）的相关性不显著，OR为1.06，95% CI为（0.69 - 1.63），p = 0.786。野生型/重复型和重复型/重复型的组合也显示出高度显著的相关性，OR为1.57，95% CI为（1.18 - 2.11），p = 0.002。
这是在印度进行的第一项研究，报告了在研究的北印度人群中CHIT1基因多态性中的24 bp重复与哮喘之间存在显著关联。
