Variant associated with lung disease

A variant at the gene FAM13A is associated with increased risk of chronic obstructive pulmonary disease (COPD), according to a study published online this week in Nature Genetics.

COPD is defined as a reduction in lung function with airflow obstruction and is regarded as the fourth most common cause of death. The largest risk factor for COPD is cigarette smoking, although the development of COPD in current and former smokers is variable.

Michael Cho and colleagues compared the genomes of three thousand COPD patients with 1,380 individuals with normal lung function, though people in both groups were current or former smokers. After adjusting for amount of cigarette smoking, the scientists found a genetic susceptibility variant for COPD at chromosome 4q22.1 in FAM13A. The scientists replicated the result by analyzing four thousand additional individuals.