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2009, Number 4

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

Role of polymorphisms in HLA and non-HLA genes in chronic obstructive pulmonary disease

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

Language: Spanish
References: 53
Page: 347-355
PDF size: 78.78 Kb.


ABSTRACT

Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality in developed countries. This disease is characterized by irreversible airflow limitation, increased pulmonary resistance, and hyperinflation of the lung. Risk factors clearly involved in its pathogenesis are exposure to cigarette smoke and severe a1-antitrypsin (SERPINA1) deficiency. However, clustering of COPD within families without deficiency of SERPINA1 and individual variation in susceptibility to cigarette smoke suggest that additional, possibly genetic, risk factors contribute to the development of COPD. A number of association studies have compared the distribution of variants in candidate genes that were hypothesized to be involved in the development of COPD. These variations include TNF, LTA, IL1B, IL4, IL10, and IL13 gene polymorphisms, among others. Concerning the HLA region, despite contribution of its allelic variants to multiple diseases, the role of HLA alleles in the pathogenesis of COPD has not been extensively investigated. There have been a limited number of studies that describe some association between HLA class I alleles and COPD. Among these, a report where the HLA-B7 allele was shown to be a risk factor for the development of COPD, an interesting finding taking into account that HLA-B7 is one of the predominant HLA alleles in Caucasian population. This review summarizes genetics associations between polymorphisms in HLA and non-HLA genes in COPD development.


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