Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global increase in the prevalence of COPD, research on the genetic factors that predispose to COPD is reviving. Recently, ADAM 33 has been found to be related to severe lung function decline and COPD. The present study is carried out with the main aim of determining the association of SNP, i.e., S2 (rs528557), with COPD. A case–control methodology is used to recruit participants. 50 COPD patients over 40 years of age and with a history of more than 20 pack years of cigarette smoking were enlisted. The same number of age and gender-matched controls with no COPD history were involved. PCR sequencing was used to analyze the genetic polymorphism of the ADAM 33 gene (SNP, i.e., S2 (rs528557). Statistical analysis was carried out using SPSS version 21. The Chi-square test was used to determine the difference in SNP rs528557 genotypes and alleles between controls and COPD. The findings of this study revealed that the G allele was present in all COPD cases (100%) and 72% of control (p = < 0.001). The minor C allele was 14% and 32% in COPD patients and control, respectively. The G/G genotype is overrepresented in cases (25.5%) than in the control (9.2%). The C/C genotype is overrepresented in controls (3.8%) than in COPD patients (0.9%). The findings of this study demonstrate a significant association of the ADAM 33 gene (SNP, i.e., S2 (rs528557) with COPD pathophysiology in the studied group.

中文翻译：

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ADAM33 基因与 COPD 病理生理学的关联：病例对照研究

在世界范围内，慢性阻塞性肺疾病（COPD）是发病率和死亡率的主要原因。考虑到全球慢性阻塞性肺病患病率的增加，对易患慢性阻塞性肺病的遗传因素的研究正在复兴。最近，ADAM 33被发现与严重的肺功能下降和COPD有关。本研究的主要目的是确定 SNP，即 S2 (rs528557) 与 COPD 的关联。使用病例对照方法来招募参与者。50 名 40 岁以上且有 20 包以上吸烟史的 COPD 患者被纳入研究。参与人数与年龄和性别相匹配、无慢性阻塞性肺病病史的对照者相同。采用PCR测序分析ADAM 33基因(SNP，即S2(rs528557)的遗传多态性。采用SPSS 21版进行统计分析。采用卡方检验确定SNP rs528557基因型与对照和 COPD 之间存在等位基因。本研究结果显示，G 等位基因存在于所有 COPD 病例 (100%) 和 72% 对照病例中 (p = < 0.001)。次要 C 等位基因在 COPD 中分别为 14% 和 32%分别为患者和对照。G/G 基因型在病例中 (25.5%) 高于对照 (9.2%)。C/C 基因型在对照 (3.8%) 中高于 COPD 患者 (0.9%)。本研究的结果表明，ADAM 33 基因（SNP，即 S2 (rs528557)）与研究组中的 COPD 病理生理学存在显着关联。