Haplin power analysis: a software module for power and sample size calculations in genetic association analyses of family triads and unrelated controls

Table 2 Parameterization of penetrances

Effects	Parameterization of penetrances
Child	\( B\cdot \text {RR}_{j}\text {RR}_{l}\text {RR}_{jl}^{*} \)	(1)
Parent-of-origin (PoO)	\( B\cdot \text {RR}_{M,j}\text {RR}_{F,l}\text {RR}_{jl}^{*} \)	(2)
Child and maternal	\( B\cdot \text {RR}_{j}\text {RR}_{l}\text {RR}_{jl}^{} \cdot \text {RR}_{i}^{(M)}\text {RR}_{j}^{(M)}\text {RR}_{ij}^{(M)} \)	(3)
PoO and maternal	\( B\cdot \text {RR}_{M,j}\text {RR}_{F,l}\text {RR}_{jl}^{} \cdot \text {RR}_{i}^{(M)}\text {RR}_{j}^{(M)}\text {RR}_{ij}^{(M)} \)	(4)

B is the baseline risk level, typically associated with the (more common) reference allele; RR_j is the risk increase associated with allele A_j, relative to B; RR_M,j and RR_F,j are the relative risks associated with allele A_j, depending on whether the allele is transmitted from the mother or the father; the double-dose parameter \(\text {RR}_{jl}^{*}\) measures the deviation from what would be expected in a multiplicative dose-response relationship, i.e., \(\text {RR}_{jl}^{*}=\text {RR}_{j}^{*}\) when j=l and \(\text {RR}_{jl}^{*}=1\) when j≠l; \(\text {RR}_{i}^{(M)}\) is the relative risk associated with allele A_i carried by the mother, and \(\text {RR}_{ij}^{(M)*}\) is the maternal double-dose parameter, interpreted analogously to \(\text {RR}_{ij}^{*}\). To ensure that the model is not overparameterized, we set RR=1 for the reference allele

ISSN: 1471-2105