Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China.
DNA Cell Biol. 2012 Sep;31(9):1475-9. doi: 10.1089/dna.2012.1719. Epub 2012 Jun 26.
Chronic obstructive pulmonary disease (COPD) is characterized by airflow obstruction due to chronic bronchitis, emphysema, and/or disease of small airways. It has been reported that the genetic variation may play a role in the development and severity of COPD. The purpose of this study was to investigate whether single-nucleotide polymorphisms (SNP) in interleukin (IL)-12A and IL-12B were associated with COPD in a Chinese population. The IL-12A rs2243115 and IL-12B rs3212227 polymorphisms were genotyped by performing polymerase chain reaction-restriction fragment length polymorphism in 298 patients with COPD and 346 healthy controls. We observed that the frequencies of GT and GT+GG of IL-12A rs2243115 were significantly different from TT in the COPD group and the control group (GT vs. TT: odds ratio [OR]=2.35, 95% confidence interval [CI]=1.55-3.57, p<0.001; GT+GG vs. TT: OR=2.46, 95% CI=1.63-3.71, p<0.001). These data suggest that the IL-12A rs2243115 polymorphism may contribute to genetic susceptibility to COPD in a Chinese population.
慢性阻塞性肺疾病（COPD）的特征是由于慢性支气管炎、肺气肿和/或小气道疾病导致的气流阻塞。据报道，遗传变异可能在 COPD 的发展和严重程度中起作用。本研究旨在探讨白细胞介素（IL）-12A 和 IL-12B 中的单核苷酸多态性（SNP）是否与中国人群中的 COPD 相关。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）在 298 例 COPD 患者和 346 例健康对照中检测了 IL-12A rs2243115 和 IL-12B rs3212227 多态性。我们观察到 IL-12A rs2243115 的 GT 和 GT+GG 频率在 COPD 组和对照组中与 TT 明显不同（GT 与 TT：比值比[OR]=2.35，95%置信区间[CI]=1.55-3.57，p<0.001；GT+GG 与 TT：OR=2.46，95% CI=1.63-3.71，p<0.001）。这些数据表明，IL-12A rs2243115 多态性可能导致中国人群对 COPD 的遗传易感性。
