Appendix Table 1.
Notational glossary.
N1 | Number of cases, some living some deceased | |
N̂1j | Estimated number of cases with genotype j | |
N0 | Number of controls, all genotyped | |
N̂0j | Estimated number of controls with genotype j | |
n1 | Number of surviving cases | |
m | number of deceased cases (=N1−n1) | |
nij | Number with case status i and genotype j | |
mjk | Number of deceased cases with offspring genotype j and spouse genotype k | |
mjc | Number of deceased cases with offspring genotype j and no spouse genotype | |
mjp | Number of deceased cases with spouse genotype j | |
mO | Number of deceased cases with no offspring genotype information | |
m1A, m1a | Number of deceased case for whom we have a genotyped child and who must have passed allele A (a) to the child m1A = m00 + m01 + m12 + m0c = m0+ + m12; m1a = m10 + m21 + m22 + m2c = m10 + m2+ | |
m1Aa | Number of deceased cases for whom we have a genotyped child and the child has genotype Aa; m1Aa = m1c | |
m1* | Number of deceased cases whose family members’ genotypes provide no information in predicting cases’ genotype; m1* = m11 + mO | |
Nijk | Number of subjects with case status i, genotype j, and environmental exposure k | |
Y | Disease status flag (1 if case) | |
G | Genotype of study participant | |
Gf, Gc, Gp | Genotype of deceased case’s family member(s) | |
Gc | Genotype of deceased case’s offspring | |
Gp | Genotype of deceased case’s spouse (the other parent of that offspring) | |
S | Survival status flag (1 if alive) | |
R, Rc, Rp | Flag for recruitability of family members, offspring and spouse for deceased case (1 if recruitable) | |
f(G) | Function of G for logistic association with disease | |
h(G) | Function of G for logistic association with death, given disease | |
β | Genetic association parameter for disease association model | |
ρ | Proportion of deceased cases whose death is unrelated to G | |
α | Genetic association parameter for death model that conditions on disease | |
pa | MAF in the control population | |
|
Consistent estimator for the MAF in the case population | |
|
Consistent estimator for the proportion of subjects with a allele in the case population | |
γ | Proportion of family members who are not recruitable. |