Premium
Association of group component genetic variations in COPD and COPD exacerbation in a Japanese population
Author(s) -
Ishii Takeo,
Motegi Takashi,
Kamio Koichiro,
Gemma Akihiko,
Kida Kozui
Publication year - 2014
Publication title -
respirology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.857
H-Index - 85
eISSN - 1440-1843
pISSN - 1323-7799
DOI - 10.1111/resp.12277
Subject(s) - copd , exacerbation , medicine , single nucleotide polymorphism , vitamin d and neurology , genotype , copd exacerbation , population , immunology , gene , acute exacerbation of chronic obstructive pulmonary disease , biology , genetics , environmental health
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.