Genetic Association Studies of Adult-Onset Diseases Using the Case-Spouse and Case-Offspring Designs

American Journal of Epidemiology

Volumn 158, Issue 11, 2003, Pages 1023-1032

  Lee, Wen Chung ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

Epidemiologic methods; Genetics; Polymorphism, single nucleotide

Indexed keywords

DESIGN; DISEASE PREVALENCE; GENETICS;

ADULT DISEASE; DISEASE ASSOCIATION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOME; GENOTYPE; HUMAN; MATING; MEDICAL PRACTICE; PREGNANCY; PROGENY; REVIEW; SIBLING; TASK PERFORMANCE; VALIDATION PROCESS;

ADULT; EPIDEMIOLOGIC METHODS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; LINKAGE DISEQUILIBRIUM; PARENTS; POLYMORPHISM, GENETIC; SPOUSES;

EID: 0345327571     PISSN: 00029262     EISSN: None     Source Type: Journal    
DOI: 10.1093/aje/kwg266     Document Type: Review

References (40)

1. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996;273:1516-17.
2. Khoury MJ, Yang Q. The future of genetic studies of complex human diseases: an epidemiologic perspective. Epidemiology 1998;9:350-4.
3. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
4. Ewens WJ, Spielman RS. The transmission/disequilibrium test: history, subdivision and admixture. Am J Hum Genet 1995;57:455-64.
5. Sun F, Flanders WD, Yang Q, et al. Transmission disequilibrium test (TDT) when only one parent is available: the 1-TDT. Am J Epidemiol 1999;150:97-104.
6. Weinberg CR. Allowing for missing parents in genetic studies of case-parent triads. Am J Hum Genet 1999;64:1186-93.
7. Lee WC. Transmission/disequilibrium test when neither parent is available in some families: a non-iterative approach. J Epidemiol Biostat 2002;7:97-103.
8. Allen AS, Rathouz PJ, Satten GA. Informative missingness in genetic association studies: case-parent designs. Am J Hum Genet 2003;72:671-80.
9. Curtis D. Use of siblings as controls in case-control association studies. Ann Hum Genet 1997;61:319-33.
10. Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450-8.
11. Boehnke M, Langefeld CD. Genetic association mapping based on discordant sib pairs: the discordant-alleles test. Am J Hum Genet 1998;62:950-61.
12. Weinberg CR, Umbach DM. Choosing a retrospective design to assess joint genetic and environmental contributions to risk. Am J Epidemiol 2000;152:197-203.
13. Breslow NE, Day NE. Statistical methods in cancer research. Vol I. The analysis of case-control studies. Lyon, France: International Agency for Research on Cancer, 1980:153. (IARC scientific publication no. 32).
14. Armitage P. Tests for linear trends in proportions and frequencies. Biometrics 1955;11:375-86.
15. Sasieni PD. From genotypes to genes: doubling the sample size. Biometrics 1997;53:1253-61.
16. Reich DE, Goldstein DB. Detecting association in a case-control study while correcting for population stratification. Genet Epidemiol 2001;20:4-16.
17. Knapp M. A note on power approximation for the transmission/disequilibrium test. Am J Hum Genet 1999;64:1177-85.
18. Chen WM, Deng HW. A general and accurate approach for computing the statistical power of the transmission disequilibrium test for complex disease genes. Genet Epidemiol 2001;21:53-67.
19. Agresti A. Categorical data analysis. New York, NY: John Wiley & Sons, Inc, 1990:422-3.
20. Camp NJ. Genomewide transmission/disequilibrium testing-consideration of the genotypic relative risks at disease loci. Am J Hum Genet 1997;61:1424-30.
21. Press WH, Flannery BP, Teukolsky SA, et al. Numerical recipes in C: the art of scientific computing. New York, NY: Cambridge University Press, 1988:261-3.
22. Julious SA, Campbell MJ. Sample size calculations for paired or matched ordinal data. Stat Med 1998;17:1635-42.
23. Weinberg CR, Wilcox AJ, Lie RT. A log-linear approach to case-parent-triad data: assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 1998;62:969-78.
24. Schaid DJ. Likelihoods and TDT for the case-parents design. Genet Epidemiol 1999;16:250-60.
25. Longmate JA. Complexity and power in case-control association studies. Am J Hum Genet 2001;68:1229-37.
26. Martin ER, Monks SA, Warren LA, et al. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet 2000;67:146-54.
27. Martin ER, Bass MP, Kaplan NL. Correcting for a potential bias in the pedigree disequilibrium test. Am J Hum Genet 2001;68:1065-7.
28. Pritchard JK, Stephens M, Rosenberg NA, et al. Association mapping in structured populations. Am J Hum Genet 2000;67:170-81.
29. Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics 2000;155:945-59.
30. Satten GA, Flanders WD, Yang Q. Account for unmeasured population substructure in case-control studies of genetic association using a novel latent-class model. Am J Hum Genet 2001;68:466-77.
31. Wang DG, Fan JB, Siao CJ, et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998;280:1077-82.
32. Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409:928-33.
33. Wacholder S, McLaughlin JK, Silverman DT, et al. Selection of controls in case-control studies. I. Principles. Am J Epidemiol 1992;135:1019-28.
34. Wacholder S, Silverman DT, McLaughlin JK, et al. Selection of controls in case-control studies. II. Types of controls. Am J Epidemiol 1992;135:1029-41.
35. Wacholder S, Silverman DT, McLaughlin JK, et al. Selection of controls in case-control studies. III. Design options. Am J Epidemiol 1992;135:1042-50.
36. Maclure M. The case-crossover design: a method for studying transient effects on the risk of acute events. Am J Epidemiol 1991;133:144-53.
37. Farrington CP, Nash J, Miller E. Case series analysis of adverse reactions to vaccines: a comparative evaluation. Am J Epidemiol 1996;143:1165-73.
38. Khoury MJ, Flanders WD. Nontraditional epidemiologic approaches in the analysis of gene-environment interaction: case-control studies with no controls! Am J Epidemiol 1996;144:207-13.
39. Zaffanella LE, Savitz DA, Greenland S, et al. The residential case-specular method to study wire codes, magnetic fields, and disease. Epidemiology 1998;9:16-20.
40. Maclure M. The case-specular study design and counterfactual controls. Epidemiology 1998;9:6-7.