Genetics and pulmonary medicine bullet 9: Molecular genetics of chronic obstructive pulmonary disease

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Abstract
There may also be differences in the prevalence of COPD in different ethnic groups, but these are difficult to separate from lifestyle factors. For example, the prevalence of COPD is apparently low in China and this cannot be entirely accounted for by a lower tobacco consumption.2 Anecdotally, COPD is uncommon in Chinese living in the USA which suggests that there may be genetic differences in the factors that protect against COPD. In Hawaii, the prevalence of COPD in Japanese-Americans smoking more than 20 cigarettes daily was 7.9% compared with 16.7% in a matched Caucasian-American group.3 More studies are needed in different ethnic groups, particularly those living overseas, in order to explore these ethnic differences. Differences in the prevalence of COPD in different ethnic groups are likely to be accounted for by the differing frequencies of genes relevant to pathogenesis, so that exploration of these differences at a molecular level may be informative. For example, the ZZ phenotype of α1-AT does not occur in black subjects and is very rare in Asians, and abnormalities in cystic fibrosis transmembrane regulator (CFTR) do not occur in the Japanese population. These differences in gene frequency between different racial groups make comparisons between different populations difficult and may account for some of the reported differences in the association between gene polymorphisms and COPD in different studies.