Shah Sonaullah, Rashid Amir, Shah Zaffar A, Jan Rafi Ahmad, Khan Umar Hafiz, Bhat Imtiyaz A, Mantoo Suhail, Shah Tajamul H, Koul Parvaiz A
Department of Internal and Pulmonary Medicine, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Department of Immunology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Lung India. 2015 May-Jun;32(3):220-4. doi: 10.4103/0970-2113.156222.
Chronic obstructive pulmonary disease (COPD) is characterized by an interaction of various environmental influences especially cigarette smoking and genetic determinants. The prevalence of this disease is ever increasing and characterization of the genetic determinants of the disease has been undertaken globally. The 'A disintegrin and metalloprotease 33' (ADAM 33) gene is one candidate gene that has been studied.
Our objective was to investigate whether single nucleotide polymorphisms in ADAM33 gene are associated with COPD in long-term tobacco smokers in the ethnic Kashmiri population of northern India.
This was a randomized case-control study, which included 78 stable COPD (GOLD stage11-IV) patients, who were compared with 77 age- and sex-matched long-term tobacco smokers (>20 pack years) without any evidence of COPD. Polymorphic analysis for three single nucleotide polymorphisms (SNPs), (T1, T2, and Q1) of the ADAM33 gene was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) followed by sequencing. The data were analyzed by descriptive statistics and comparative evaluation was done by parametric/non-parametric tests.
The analysis of the T1, T2, and Q1 SNPs, revealed that the frequencies of the T2GG, T1GG, and the Q1AG genotypes were significantly higher in patients with COPD in comparison with the controls (P < 0.001). Similarly, the T1G and T2G allele frequency was higher in the patients than in the controls (p = 0.177 and 0.43, respectively).
Three SNPs of the ADAM33 gene were significantly associated with COPD in the Kashmiri population of India. This study establishes the possible role of ADAM33 SNPS in the causation of COPD. Further studies across different geographical areas in the country will unravel the contribution of this gene in the causation of COPD in India.
慢性阻塞性肺疾病（COPD）的特征是多种环境因素尤其是吸烟与遗传决定因素相互作用。该疾病的患病率不断上升，全球都在对其遗传决定因素进行研究。“解聚素和金属蛋白酶33”（ADAM 33）基因是已被研究的一个候选基因。
我们的目的是调查在印度北部克什米尔族长期吸烟者中，ADAM33基因的单核苷酸多态性是否与COPD相关。
这是一项随机病例对照研究，纳入了78例稳定期COPD（GOLD分期Ⅱ-Ⅳ期）患者，并与77例年龄和性别匹配的无COPD证据的长期吸烟者（吸烟量>20包年）进行比较。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）然后测序的方法，对ADAM33基因的三个单核苷酸多态性（SNP）（T1、T2和Q1）进行多态性分析。数据采用描述性统计进行分析，并通过参数/非参数检验进行比较评估。
对T1、T2和Q1 SNP的分析显示，与对照组相比，COPD患者中T2GG、T1GG和Q1AG基因型的频率显著更高（P < 0.001）。同样，患者中T1G和T2G等位基因频率高于对照组（分别为p = 0.177和0.43）。
ADAM33基因的三个SNP与印度克什米尔人群中的COPD显著相关。本研究确定了ADAM33 SNP在COPD病因中的可能作用。在该国不同地理区域开展的进一步研究将揭示该基因在印度COPD病因中的作用。
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