Clinical Chemistry
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Clinical Chemistry 51: 929-930, 2005; 10.1373/clinchem.2005.050179
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(Clinical Chemistry. 2005;51:929-930.)
© 2005 American Association for Clinical Chemistry, Inc.

Editorial

Genotype–Phenotype Correlations (II): Assessing the Influence of Sequence Variants on the Clinical Phenotype in Multifactorial Disorders

Lawrence M. Silvermana and Theodore M. Mifflin

University of Virginia Health Sciences Center, Charlottesville, VA

aAddress correspondence to this author at: University of Virginia Health Sciences Center, Box 800168, Charlottesville, VA 22908. E-mail Lms7r@virginia.edu.

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

Several recent articles in Clinical Chemistry have described the use of single-nucleotide polymorphisms (SNPs) as markers in genetic linkage studies (1)(2). These markers can be used to identify loci associated with specific disease phenotypes in a general or specific manner. The general approach, commonly called "genome-wide scanning", uses hundreds to thousands of polymorphic markers (most often SNPs) to look for genetic associations in individuals with a specific phenotype. Alternatively, when SNPs in specific candidate genes have been identified and selected, these genes are usually associated with biochemical or physiologic pathways believed to be involved in the disease pathogenesis.

Even in the so-called "single gene" disorders (e.g., cystic fibrosis), where we previously thought pathways were relatively straightforward, there are often complicating factors, such as modifier genes. To help define modifier genes, it is important to precisely define clinical phenotypes (3). In the case of multifactorial disorders, where multiple biochemical and physiologic pathways may be involved, the need for "carefully generated distinct phenotypes" becomes even more critical. A case in point is found in this issue of Clinical Chemistry, where Hsieh et al. (4) describe a study looking . . . [Full Text of this Article]






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