Common variants in the BMP2, BMP4, and HJV genes of the Hepcidin regulation pathway modulate HFE hemochromatosis penetrance

Article Abstract:

A study to test the association between common variants in candidate gene and hemochromatosis penetrance in a large sample of C282Y homozygotes using pretherapeutic serum ferritin level as marker of hemochromatosis was conducted. Results show a common association between serum ferrritin level and rs235756 a common single nucleotide polymorphism (SNP) in the BMP2 genic region.

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Overcoming the winner's curse: Estimating penetrance parameters from case-control data

Article Abstract:

A method that corrects an ascertainment bias known as the 'winner's curse' and generates an estimate of the frequency of a variant and its penetrance parameters is presented. The performance of this method shows that it is possible to greatly reduce the bias in the parameter estimates, even when the original association study had low power.

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Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies

Article Abstract:

The article describes the development of a computational tool capable of harnessing the information in SNP genotype data to detect deletions and also accurately estimates both the population frequency and the transmission frequency.

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