PTEN identified as important risk factor of chronic obstructive pulmonary disease

H. Dean Hosgood, Idan Menashe, Xingzhou He, Stephen Chanock, Qing Lan

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


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 min P analysis using 20,000 permutations (P = 0.00005). SNP-based analyses found that homozygote variant carriers of PTEN rs701848 (ORTT = 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.

Original languageEnglish (US)
Pages (from-to)1866-1870
Number of pages5
JournalRespiratory Medicine
Issue number12
StatePublished - Dec 2009
Externally publishedYes


  • AKT
  • Apoptosis
  • COPD
  • Cell cycle
  • PTEN

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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