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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease.

OBJECTIVE: The study investigated the association of genetic polymorphism of the alpha1AT gene with COPD. DESIGN AND METHODS: The mutations and polymorphism of alpha1AT gene were investigated by DNA sequence analysis using polymerase chain reaction. RESULTS: The frequency of the PIM3 allele in COPD patients was found to be significantly higher than the controls (P < 0.0001). Five SNPs, including a novel SNP (24_25insA), were observed near the junction of exon-intron I. The occurrence of these SNPs didn't show any association with COPD. However, the PIM3 allele of the alpha1AT gene was found to be associated with COPD. CONCLUSION: The PIM3 allele of the alpha1AT gene is found to have an association with the pathogenesis of COPD in the Indian population.[1]

References

  1. Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease. Gupta, J., Bhadoria, D.P., Lal, M.K., Kukreti, R., Chattopadhaya, D., Gupta, V.K., Dabur, R., Yadav, V., Chhillar, A.K., Sharma, G.L. Clin. Biochem. (2005) [Pubmed]
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