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22-06-2010 | Respiratory | Article

Three COPD susceptibility genes identified


Free abstract

MedWire News: Results from a genetic association study have shown that variants in the STAT1, NFKBIB/SIRT2, and GC genes are associated with susceptibility to chronic obstructive pulmonary disease (COPD).

Writing in the European Respiratory Journal, Per Bakke (Haukeland University Hospital, Bergen, Norway) and colleagues explain that smoking is the greatest risk factor for COPD, but that genetic factors may play a role in susceptibility to the disease.

They add that, although a large number of COPD candidate genes have been identified, “lack of reproducibility of findings has been a criticism of genetic association studies.”

To address this, the researchers studied 953 COPD patients with a post-bronchodilator FEV1 of less than 80% of the predicted value and a FEV1/forced vital capacity ratio of less than 0.7, and 956 controls without the condition. Both patients and controls had a smoking history of at least 2.5 pack-years.

All the participants were genotyped for 257 single nucleotide polymorphisms (SNPs) located in 16 genes with reported or potential associations with COPD. These SNPs were specifically assessed for associations with the binary COPD phenotype and two quantitative traits – post bronchodilator percent of predicted FEV1 and FEV1/FVC ratio.

SNPs with significant associations in the first study group were then tested in a second, consisting of 610 patients with COPD and 1300 siblings.

The researchers found significant associations in both populations between the SNPs rs13010343 and rs2241704 located in STAT1 and NFKBIB/SIRT2, respectively, and the binary COPD phenotype.

They also found that the SNPs rs17467825 and rs1155563 in the GC gene were significantly associated with percent of predicted FEV1 and FEV1/FVC, respectively, in both populations.

Bakke and team conclude: “We conducted a robust genetic association study and found that variants in the STAT1, NFKBIB/SIRT2 and GC genes are likely to contribute to the susceptibility to COPD.

“Functional tests need to be performed to find the molecular mechanism that drives the genetic association between COPD phenotypes and the above three genes.”

MedWire ( is an independent clinical news service provided by Current Medicine Group, a trading division of Springer Healthcare Limited. © Springer Healthcare Ltd; 2010

By Mark Cowen

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