Single nucleotide polymorphism complex diseases

Martin ER, Lai EH, Gilbert JR et al. SNPing away at complex diseases analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet 2000 67 383-394. 

Martin, E.R., et al., "SNPing Away at Complex Diseases Analysis of Single-Nucleotide Polymorphism around APOE in Alzheimer Disease," Am. J. Hum. Genet., 67, 383-394 (2000). 

Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, Riley J, Finch KL, Stevens JF, Livak KJ, Slotterbeck BD, Slifer SH, Warren LL, Conneally PM, Schmechel DE, Purvis I, Pericak-Vance MA, Roses AD, Vance JM. SNPing away at complex diseases analysis if single-nucleotide polymorphism around APOE in Alzheimer disease. Am J Hum Genet 2000 67 383-394. 

The penetrance of genetic factors is another parameter in complex diseases. If the penetrance of these factors is indeed very low, as studies to date indicate, new approaches wiU be necessary to detect them. It seems already dear that the relative genetic risk of single variants is very small in complex diseases. Therefore, predictions can only provide risk probabilities but not risk certainties. On the other hand, in cases of low complexity and single nucleotide polymorphisms (SNPs) with high penetrance, the predictive power of tests reaches close to certainty as shown for hemophilia. 

Kirk, B. W., Feinsod, M., Favis, R., Kliman, R. M., and Barany, F. Single nucleotide polymorphism seeking long term association with complex disease. Nucleic Acids Research 30, 3295-3311 (2002). 

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