日本人群中 COPD 及 COPD 加重的群组成分遗传变异的相关性。

Association of group component genetic variations in COPD and COPD exacerbation in a Japanese population.

机构信息

Respiratory Care Clinic, Nippon Medical School, Tokyo, Japan; Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan.

出版信息

Respirology. 2014 May;19(4):590-5. doi: 10.1111/resp.12277.

DOI:10.1111/resp.12277

PMID:24735339

Abstract

BACKGROUND AND OBJECTIVE

Vitamin D supplementation can decrease the vulnerability to pulmonary infections. Therefore, it is speculated that the genes related to vitamin D metabolism are associated with an exacerbation-prone phenotype in chronic obstructive pulmonary disease (COPD). Because genetic variations of group component (GC) affect immunological capacity and serum vitamin D concentration, they could also affect the susceptibility to COPD exacerbation and the disease progression. We investigated the association between GC genetic variations and COPD and its exacerbation frequency in a Japanese population.

METHODS

We performed genotype analysis of 361 COPD patients and 219 controls to identify two coding single nucleotide polymorphisms of GC, rs4588 and rs7041. We examined whether these polymorphisms were associated with the frequency of COPD exacerbation and analysed the correlation between the genotypes, COPD, emphysema severity and COPD progression, namely, the annual decline in airflow obstruction and diffusing capacity.

RESULTS

Subjects with a C allele at rs4588 exhibited a higher frequency of exacerbations (P = 0.0048), greater susceptibility to chronic obstructive pulmonary disease (P = 0.0003), and emphysema (P = 0.0029), and a tendency for rapid decline of airflow obstruction (P = 0.0927).

CONCLUSIONS

GC variations may affect exacerbation susceptibility, possibly leading to COPD worsening and its progression.

摘要

背景与目的

维生素 D 补充剂可降低肺部感染的易感性。因此，人们推测与维生素 D 代谢相关的基因与慢性阻塞性肺疾病（COPD）的易恶化表型有关。由于群体成分（GC）的遗传变异会影响免疫能力和血清维生素 D 浓度，因此它们也可能影响 COPD 恶化的易感性和疾病进展。我们在日本人群中研究了 GC 遗传变异与 COPD 及其恶化频率之间的关系。

方法

我们对 361 例 COPD 患者和 219 例对照进行了 GC 的两个编码单核苷酸多态性 rs4588 和 rs7041 的基因分型分析。我们检查了这些多态性是否与 COPD 恶化的频率有关，并分析了基因型与 COPD、肺气肿严重程度和 COPD 进展之间的相关性，即气流阻塞和弥散能力的年度下降。