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2009, Number 2

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Rev Inst Nal Enf Resp Mex 2009; 22 (2)

Genetic and molecular basis of alpha-1 antitrypsin (SERPINA1) and its role in COPD

Falfán-Valencia R, Silva-Zolezzi I, Pérez-Rubio G, Camarena Á, Morales-Mandujano F, Montaño M, Ramírez-Venegas A

Language: Spanish
References: 60
Page: 124-136
PDF size: 117.73 Kb.


ABSTRACT

Alpha-1 antitrypsin testing in all individuals with chronic obstructive pulmonary disease (COPD) is a mandatory recommendation made by the American Thoracic Society, the American College of Chest Physicians, the European Respiratory Society, the World Health Organization, and the American Association for Respiratory Care. Additionally, basic and clinical researchers have focused their efforts to determine the population frequency of risk alleles (PiZ and PiS, mainly) associated to alpha-1 antitrypsin deficiency. In the other hand, such deficiency has been linked to COPD development, overall in Caucasians populations, even though there are reports about increased frequencies in non-white populations such as Africans, Arabians, New Zealanders, and Asians. Unfortunately, there is a lack of data about frequency of these polymorphisms in Latin American populations, which have a high degree of genetic admixture between native Americans and Europeans arrived with the America’s discovery and conquest, besides the constant arrival of European migratory groups due to expatriation, political exile or war. This review is aimed to perform a more in-deep analysis of genetic, molecular and epidemiological concepts about alpha-1 antitrypsin deficiency and its relationship with COPD.


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