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2009, Number 4

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Rev Inst Nal Enf Resp Mex 2009; 22 (4)

Current concepts in genome-wide association studies (GWAS) in chronic obstructive pulmonary disease

Pérez-Rubio G, Silva-Zolezzi I, Ramírez-Venegas A, Sansores RH, Reséndiz-Hernández JM, Montaño M, Camarena Á, Falfán-Valencia R

Language: Spanish
References: 49
Page: 337-346
PDF size: 72.83 Kb.


ABSTRACT

Cigarette smoking is considered as the major risk factor for chronic obstructive pulmonary disease (COPD); however, only 10-20% of smokers develop the disease. The extent of cigarette smoking (pack-year, duration of smoking habit) only accounts for 15% of the variation in lung function, indicating that factors other than tobacco habit must be involved in susceptibility to COPD. This disease is unique among complex genetic illnesses in that the environmental risk factor is known and the level of exposure can be documented with some precision. The high rates of mortality and morbidity associated with COPD, as well as its chronic and progressive nature, has prompted the use of molecular genetic studies in an attempt to identify additional susceptibility factors. Genetic linkage studies are very powerful for the study of monogenic disorders, but have limited power in complex genetic disorders where many genes are likely to be acting and there are no clear inheritance patterns. Currently, with the completion of the human genome project, the human genetic sequence is known and publicly available for consultation. These advances in the knowledge, along with technological progresses that allow high throughput genotyping of thousands of polymorphisms on hundreds or thousands of individuals, have provided a remarkable set of tools to discover genes/polymorphisms relevant for biomedical research. In this review we describe the most recent scenario related to genetic association studies in COPD.


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