Table 2.
Strategy | Case subject genotype countsa | Control subject genotype countsa | Dominant model | Recessive model | ||
---|---|---|---|---|---|---|
Effect size | Benefit-cost ratio | Effect size | Benefit-cost ratio | |||
Strategies focused on age | ||||||
A. Youngest haplotype-carrier case subject in each pedigree vs. oldest non-haplotype-carrier control subject | 5/1/2 | 1/5/2 | 1 | 0.06 | 11.67 | 0.73 |
B. Youngest case subject vs. oldest control subject in each pedigree | 4/4/0 | 1/3/4 | 16.0b | 1.0 | 7 | 0.44 |
Strategies focused on low-covariate status | ||||||
C. All low-covariate haplotype-carrier case subjects vs. all high-covariate non-haplotype-carrier control subjects | 7/5/1 | 0/4/6 | 18c | 0.78 | 23.3b,d | 1.01 |
D. Families with 2+ low-covariate haplotype-carrier case subjects vs. all high-covariate non-haplotype-carrier control subjects | 4/4/1 | 0/4/6 | 12c | 0.63 | 16.0b,d | 0.84 |
E. All low-covariate case subjects vs. all high-covariate control subjects | 7/6/3 | 0/4/7 | 7.58 | 0.28 | 17.1b,d | 0.63 |
F. Lowest covariate case subject vs. highest covariate control subject per pedigree | 3/4/1 | 0/4/4 | 7 | 0.44 | 5.3 | 0.33 |
Other strategies | ||||||
G. All haplotype-carrier case subjects vs. all non-haplotype-carrier control subjects per pedigree | 10/21/9 | 7/66/104 | 4.91c | 0.02 | 8.1c | 0.04 |
H. All case subjects vs. all control subjects | 10/40/31 | 10/86/110 | 1.85c | 0.01 | 2.76c | 0.01 |
I. Random case subject vs. random control subject per pedigree | 0/5/3 | 1/2/5 | 2.78 | 0.17 | 0 | 0.00 |
a The three values are the counts for homozygote rare, heterozygote, and wild-type variants.
b For cells with zero count, we added 0.5 to the cell to compute the odds ratio.
cp < 0.05.
d Unable to compute significance because of a zero cell, and either case or control subjects or both are related.