Rare variant of MAP2K7 is associated with increased risk of COPD in southern and eastern Chinese

Abstract

Our data strongly suggest that the p.Glu116Lys rare variant in MAP2K7 predisposes its carriers to develop COPD, which would provide a useful genetic biomarker for COPD susceptibility in Chinese.

Year in review 2017: Chronic obstructive pulmonary disease and asthma

“…22 Although cigarette smoking is the most significant risk factor, only a fraction of smokers develop COPD, so genetic associations should also be considered when assessing potential risk factors. Qiu et al 23 found that rare variants (Glu116Lys) in mitogen-activated protein kinase 7 (MAP2K7) in southern and eastern Chinese were associated with elevated risk of COPD. Epigenetic regulation of gene expression was also shown to be modified in COPD.…”