Shukla Rajni Kant, Kant Surya, Bhattacharya Sandeep, Mittal Balraj
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rai Barely Road, Lucknow, 226014, India.
Oman Med J. 2012 Jul;27(4):285-90. doi: 10.5001/omj.2012.71.
Chronic obstructive pulmonary disease (COPD) is a major health problem. The disease is driven by abnormal inflammatory reactions in response to inhaled particles and fumes. Therefore, inflammatory mediators are postulated to be of distinct importance. Keeping in view of the above facts; we investigate the role of polymorphisms of cytokine genes in the genetic predisposition of COPD.
In this present case-control study, the allele and genotype distributions of IL1B, IL1RN, TNF-α, and IL4 were studied in COPD patients (N=204) and healthy individuals (N=208). Genomic DNA was obtained by whole blood and genotyping was carried out by a polymerase chain reaction (PCR) based Restriction Fragment Length Polymorphism technique.
Genotype IL1RN2/IL1RN2 was identified as protective for male COPD, its frequency being 8.7% in COPD patients and 14.6% in healthy subjects (p=0.017; OR=0.53), but IL1RN1/IL1RN2 turned out to be a risk factor for females COPD. No significant differences were found between the groups of COPD patients and healthy subjects concerning the genotype frequencies of the polymorphisms T (-511) C of IL1B and 70bp VNTR of IL-4. Genotype GA of the TNF-α polymorphism G (-308) A was more common in the COPD patients than in the controls (20.5% vs.14.4%; p=0.107), and allele A was significantly associated with COPD patients (p=0.023; OR=0.65).
IL-1RN *2 allele appears to be significantly associated with the COPD female patients and TNF-α-308A allele is a risk factor for the development of COPD.
慢性阻塞性肺疾病（COPD）是一个主要的健康问题。该疾病由对吸入颗粒和烟雾的异常炎症反应所驱动。因此，推测炎症介质具有至关重要的意义。鉴于上述事实，我们研究细胞因子基因多态性在COPD遗传易感性中的作用。
在本病例对照研究中，对204例COPD患者和208例健康个体研究了白细胞介素1β（IL1B）、白细胞介素1受体拮抗剂（IL1RN）、肿瘤坏死因子-α（TNF-α）和白细胞介素4（IL4）的等位基因和基因型分布。通过全血获取基因组DNA，并采用基于聚合酶链反应（PCR）的限制性片段长度多态性技术进行基因分型。
基因型IL1RN2/IL1RN2被确定为对男性COPD具有保护作用，其频率在COPD患者中为8.7%，在健康受试者中为14.6%（p=0.017；比值比[OR]=0.53），但IL1RN1/IL1RN2被证明是女性COPD的一个危险因素。在COPD患者组和健康受试者组之间，关于IL1B的多态性T（-511）C和IL-4的70bp可变数目串联重复序列（VNTR）的基因型频率未发现显著差异。TNF-α多态性G（-308）A的基因型GA在COPD患者中比在对照组中更常见（20.5%对14.4%；p=0.107），且等位基因A与COPD患者显著相关（p=0.023；OR=0.65）。
IL-1RN *2等位基因似乎与COPD女性患者显著相关，而TNF-α -308A等位基因是COPD发生发展的一个危险因素。
