Clinical Chemistry
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Clinical Chemistry 52: 2180-2181, 2006; 10.1373/clinchem.2006.078907
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(Clinical Chemistry. 2006;52:2180-2181.)
© 2006 American Association for Clinical Chemistry, Inc.

Editorials

Efficient and Accurate Approaches to the Laboratory Diagnosis of {alpha}1-Antitrypsin Deficiency: The Promise of Early Diagnosis and Intervention

Mark Brantly

University of Florida, Alpha-1-Antitrypsin, Genetics Laboratory, Gainesville, FL, Fax 352-392-7088, E-mail brantml@medicine.ufl.edu

The first 20% of the full text of this article appears below.

Abnormal human genes are rarely absolute predictors of the development of disease. With a few notable exceptions, abnormal genes predict risk of disease, and this risk is modified by environmental factors. When these environmental risk factors are known and minimized, early identification may translate into substantial health benefits. One of the best examples of the potential of this paradigm is {alpha}1-antitrypsin deficiency.

{alpha}1-Antitrypsin (AAT) deficiency is most often caused by inheritance of the so-called PI*Z allele (1)(2). "PI" is the former nomenclature for the SERPINA1 [serpin peptidase inhibitor, clade A ({alpha}1 antiproteinase, antitrypsin), member 1] gene locus and stands for protease inhibitor. While the number of AAT variants is >100, ~95% of all AAT-deficient individuals are homozygous for the Z allele. The PI*Z allele is the result of a guanine-to-adenine base substitution, which in turn changes glutamic acid to lysine at position 342 of the mature AAT protein. This amino acid change alters the net charge of the protein and is the basis of its identification in isoelectric focusing gels. Inheritance of this allele increases the risk of developing chronic obstructive lung disease (COPD) and liver disease (1)(2). The diagnosis of AAT deficiency is based exclusively on laboratory assays (3).

Risk ratios for COPD range from 1.5–12-fold, depending on whether the Z allele is present in heterozygous or homozygous combinations (4)(5)(6. . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 NEJMHome page
E. K. Silverman and R. A. Sandhaus
Alpha1-Antitrypsin Deficiency
N. Engl. J. Med., June 25, 2009; 360(26): 2749 - 2757.
[Full Text] [PDF]

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 Clin. Chem.Home page
M. Dahl
Commentary
Clin. Chem., August 1, 2008; 54(8): 1398 - 1399.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
J. Prins, B. B. van der Meijden, R. J. Kraaijenhagen, and J. P.M. Wielders
Inherited Chronic Obstructive Pulmonary Disease: New Selective-Sequencing Workup for {alpha}1-Antitrypsin Deficiency Identifies 2 Previously Unidentified Null Alleles
Clin. Chem., January 1, 2008; 54(1): 101 - 107.
[Abstract] [Full Text] [PDF]


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