Frequency of S and Z alleles for alpha-1-antitrypsin and tumor necrosis factor alpha - 308 promoter polymorphism in Northeastern Mexico

Diseases characterized by airway inflammation, excessive secretion, and obstruction affect a substantial proportion of the population. Studies for understanding the mechanisms underlying these processes are focused on the initiation and maintenance of inflammation. Polymorphisms on DNA sequence of response mediators such as alpha-1-antitrypsin (AAT) and tumor necrosis factor (TNF) alpha have the capacity to influence presentation of diseases, affecting protein amount and/or functionality, and can be analyzed as disease modulators. The purpose of this study was to analyze AAT S and Z alleles and -308G/A TNF-alpha polymorphism on the northeast Mexico mestizo population to compare the influence of these genes in several diseases. DNA samples from 103 volunteers (healthy group) were tested for modifier gene variants by polymerase chain reaction-RFLP as follows: AAT gene for S and Z alleles and TNF-alpha promoter -308G/A (TNF1/TNF2) alleles. Allele frequency for S and TNF2 alleles were 1.5 and 2.4%, respectively, whereas the Z allele was not detected. This study shows low frequencies of the AAT S and TNF2 alleles, and the Z allele was not found. Correlation studies in the future will allow to determine if these alleles have some influence in the clinical presentation of diverse diseases in this group of people.