Common genetic variation may play an important role in altering
chronic obstructive pulmonary disease (
COPD) risk. In Xuanwei, China, the
COPD rate is more than twice the Chinese national average, and
COPD is strongly associated with in-home
coal use. To identify genetic variation that may be associated with
COPD in a population with substantial in-home
coal smoke exposures, we evaluated 1261 single nucleotide polymorphisms (SNPs) in 380 candidate genes potentially relevant for
cancer and other human diseases in a population-based case-control study in Xuanwei (53 cases; 107 controls). PTEN was the most significantly associated gene with
COPD in a minP analysis using 20,000 permutations (P=0.00005). SNP-based analyses found that homozygote variant carriers of PTEN rs701848 (OR(TT)=0.12, 95% CI=0.03-0.47) had a significant decreased risk of
COPD. PTEN, or
phosphatase and
tensin homolog, is an important regulator of cell cycle progression and cellular survival via the AKT signaling pathway. Our exploratory analysis suggests that genetic variation in PTEN may be an important risk factor of
COPD in Xuanwei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuanwei and other populations with
coal smoke exposures.