Lori C. Sakoda, PhD, research scientist at Kaiser Permanente Division of Research and affiliate investigator of the Division of Public Health Sciences at the Fred Hutchinson Cancer Research Center, discusses her study examining the pleiotropic associations of genetic risk variants for chronic obstructive pulmonary disease (COPD) with lung cancer risk.

This research is focused on germline variants, specifically singular nucleotide polymorphism snips that are inherited at birth, which is in contrast to somatic mutations that are being studied against agents such as crizotinib (Xalkori).

There was no clear evidence of pleiotropy between COPD and lung cancer as only 2 of the 16 snips were associated with an increase in overall lung cancer risk, although both snips were on the same chromosomal region—chromosome 15.

Even though clear evidence was not found, the number of lung cancer cases was limited, which restricted their ability to detect genetic associations, particularly those that are very small in magnitude. Sakoda also touched on There is also potential unreliability of the electronic record-based algorithm based used that produces the diagnosis codes of patients with COPD.

One of the immediate next steps would be to improve the algorithm for determining COPD status, and to determine whether results change when that new algorithm is applied.

Lori C. Sakoda, PhD

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Lori Sakoda on Genetic Risk Variants for COPD and Lung Cancer