Abstract
Family studies are frequently undertaken as the first step in the search for genetic determinants of disease. Significant familial aggregation of disease is suggestive of a genetic etiology for the disease, and may lead to more focused genetic analyses. Many methods have been proposed in the literature for the analysis of family studies. One model that is appealing for its simplicity of computation and the conditional interpretation of its parameters is the quadratic exponential model (e.g., Zhao and Prentice [1990] Biometrika 77:642-648; Betensky and Whittemore [1996] Appl. Stat. 45:422-429; Hudson et al. [2001a] Am. J. Epidemiol. 153:500-514). However, a limiting factor in its application, as well as that of the other proposed methods, is that power and sample size calculations have not been derived. These calculations are essential for investigators who are designing family studies. Here we derive analytic approximations for power for testing for familial aggregation, for both randomly sampled and nonrandomly sampled families. We also present simulation studies of power for both single- and two-disease cases, both under random and nonrandom sampling.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 316-327 |
| Number of pages | 12 |
| Journal | Genetic Epidemiology |
| Volume | 26 |
| Issue number | 4 |
| DOIs | |
| State | Published - May 1 2004 |
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Keywords
- Ascertainment
- Association
- Design
- Family study
- Quadratic exponential
- Sample size
ASJC Scopus subject areas
- Epidemiology
- Genetics(clinical)
Cite this
Power Calculations for Familial Aggregation Studies. / Rabbee, Nusrat; Betensky, Rebecca.
In: Genetic Epidemiology, Vol. 26, No. 4, 01.05.2004, p. 316-327.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Power Calculations for Familial Aggregation Studies
AU - Rabbee, Nusrat
AU - Betensky, Rebecca
PY - 2004/5/1
Y1 - 2004/5/1
N2 - Family studies are frequently undertaken as the first step in the search for genetic determinants of disease. Significant familial aggregation of disease is suggestive of a genetic etiology for the disease, and may lead to more focused genetic analyses. Many methods have been proposed in the literature for the analysis of family studies. One model that is appealing for its simplicity of computation and the conditional interpretation of its parameters is the quadratic exponential model (e.g., Zhao and Prentice [1990] Biometrika 77:642-648; Betensky and Whittemore [1996] Appl. Stat. 45:422-429; Hudson et al. [2001a] Am. J. Epidemiol. 153:500-514). However, a limiting factor in its application, as well as that of the other proposed methods, is that power and sample size calculations have not been derived. These calculations are essential for investigators who are designing family studies. Here we derive analytic approximations for power for testing for familial aggregation, for both randomly sampled and nonrandomly sampled families. We also present simulation studies of power for both single- and two-disease cases, both under random and nonrandom sampling.
AB - Family studies are frequently undertaken as the first step in the search for genetic determinants of disease. Significant familial aggregation of disease is suggestive of a genetic etiology for the disease, and may lead to more focused genetic analyses. Many methods have been proposed in the literature for the analysis of family studies. One model that is appealing for its simplicity of computation and the conditional interpretation of its parameters is the quadratic exponential model (e.g., Zhao and Prentice [1990] Biometrika 77:642-648; Betensky and Whittemore [1996] Appl. Stat. 45:422-429; Hudson et al. [2001a] Am. J. Epidemiol. 153:500-514). However, a limiting factor in its application, as well as that of the other proposed methods, is that power and sample size calculations have not been derived. These calculations are essential for investigators who are designing family studies. Here we derive analytic approximations for power for testing for familial aggregation, for both randomly sampled and nonrandomly sampled families. We also present simulation studies of power for both single- and two-disease cases, both under random and nonrandom sampling.
KW - Ascertainment
KW - Association
KW - Design
KW - Family study
KW - Quadratic exponential
KW - Sample size
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U2 - 10.1002/gepi.10312
DO - 10.1002/gepi.10312
M3 - Article
VL - 26
SP - 316
EP - 327
JO - Genetic Epidemiology
JF - Genetic Epidemiology
SN - 0741-0395
IS - 4
ER -