Pleiotropy and disease

Gene Expression
By Razib Khan
Jun 2, 2009 6:09 PMNov 5, 2019 9:38 AM


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Two interesting papers, one which relates KITLG and cancer, and another which connects ABCC11 and cancer. These are familiar genes. KITLG has been implicated in depigmentation, both of skin and hair. ABCC11 in earwax form and body odor. If you knock around a gene there is a high probability that you'll perturb multiple traits. Somethings the relationship between variation on a gene and pathology is more straightforward. Some of the genes responsible for normal human variation in pigmentation were originally of interest due to their implication in albinism, which is a disease with some non-trivial health consequences.

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