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Chunk #25 — Summary

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Defining alcohol-related phenotypes in humans. The Collaborative Study on the Genetics of Alcoholism.
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In the study of complex diseases such as alcoholism, it is important to perform a complete assessment of the disorder and its related characteristics. In COGA, there is a close relationship between the phenotypes studied and the genetic findings. This means that as the phenotypes of alcoholism and correlated characteristics are modified, linkage to different chromosomal regions is found. Although alcohol dependence is correlated with many behavioral features and physiological measurements, genetic linkage analyses of the traits studied have pointed to different genetic regions related to these traits. For example, three phenotypes—“alcohol dependence,” “low level of response” to alcohol, and “alcoholism or depression”—exhibit genetic linkage with the same area on chromosome 1, although each of these phenotypes was found in a different subset of participants. This finding suggests that a genetic factor may be located in the region that contributes to the development of multiple characteristics, such as alcohol dependence, depression, and a person’s initial response to alcohol, with the specific effect depending on other accompanying factors. Several other phenotypes—“unaffected,” “maximum number of drinks,” alcoholism severity, and the combined analysis