October 07, 2015
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Genetic associations found for lung function, smoking behavior

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An analysis of genetic data revealed new associations between lung function and smoking behavior.

The findings provide new insight into the underlying mechanisms for COPD, tobacco addiction and airflow obstruction, researchers wrote.

“These findings, taken together with previous findings, will help define pathways underlying predisposition to development of COPD and smoking behaviors,” Louise V. Wain, PhD, of the department of health sciences at University of Leicester in Leicester, United Kingdom, said in a press release. “A full understanding of the biological mechanisms underlying these genetic associations will improve our understanding of the pathophysiology of COPD and smoking behavior, and potentially give rise to novel therapeutic strategies for the management of airway disease and prevention of nicotine addiction.”

Wain and colleagues evaluated 50,008 unique samples from the UK Biobank for both heavy smokers and participants who have never smoked. The researchers further divided the samples based on forced expiratory volume in 1 second (FEV1) results, with 10,002 participants in the low group, 10,000 participants in the average group and 5,002 in the high FEV1 group for both heavy smokers and participants who have never smoked, according to the abstract.

The researchers found significant genetic sharing between heavy smokers and participants who have never smoked and low FEV1, as well as overlapping genetic causes for low FEV1 between participants with doctor-diagnosed asthma and no asthma. In addition, Wain and colleagues found six genetic-wide significant signals of association for low FEV1, which included signals at new loci, such as KANSL1, TSEN54, TET2, and RBM19/TBX5. Extremes in FEV1 were associated with the number of copies in a 150 kb region containing the 5’ end of KANSL1, according to Wain and colleagues.

The researchers noted that NPNT and HLA-DQB1/HLA-DQA2, two new independent signals discovered, are located at previously reported loci. These new signals were also linked to COPD, even in participants who were never smokers, according to the abstract.

“We also discovered five new genome-wide significant signals for smoking behavior, including a variant in NCAM1 (chromosome 11) and a variant on chromosome 2 (between TEX41 and PABPC1P2) that has a trans effect on expression of NCAM1 in brain tissue,” Wain and colleagues wrote in their study abstract. – by Jeff Craven

Disclosure: The researchers report no relevant financial disclosures.