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Gene Variant Linked to Improved Lung Function

Association found in children with asthma and in adult smokers

WEDNESDAY, Dec. 16 (HealthDay News) -- A gene variant has been associated with better lung function in children with asthma and adult smokers, as well as with a reduced risk of developing chronic obstructive pulmonary disease (COPD), according to a study published online Dec. 16 in the New England Journal of Medicine.

Gary M. Hunninghake, M.D., from Harvard Medical School in Boston, and colleagues examined the association between single nucleotide polymorphisms in the matrix metalloproteinase 12 (MMP12) gene and forced expiratory volume in one second (FEV1, a measure of lung function) in more than 8,300 children and adults, and the association between FEV1 and the onset of COPD in 1,468 men. The results for MMP12 were then further examined in two additional groups.

The researchers found that the minor allele of a functional variant in the promoter region of MMP12 was significantly and positively associated with FEV1 in children with asthma and adult former and current smokers in the first group. This allele was also significantly associated with a reduced risk of COPD onset in the group of men (hazard ratio, 0.65) and a significantly reduced COPD risk in smokers (odds ratio, 0.63) and another study of early-onset COPD.

"The observation that genetic variants in MMP12 influence lung function both in children with asthma and in adult smokers supports the 'Dutch hypothesis,' which states that asthma and COPD (encompassing chronic bronchitis and emphysema) are different manifestations of a single disease entity," writes the author of an accompanying editorial.

Several authors reported financial and consulting relationships with various pharmaceutical companies.

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