- Haplotype relative risk
- Identity by descent
- Linkage analysis
- Linkage disequilibrium
A general approach to family-based examinations of association between marker alleles and traits is proposed. The approach is based on computing p values by comparing test statistics for association to their conditional distributions given the minimal sufficient statistic under the null hypothesis for the genetic model, sampling plan and population admixture. The approach can be applied with any test statistic, so any kind of phenotype and multi-allelic markers may be examined, and covariates may be included in analyses. By virtue of the conditioning, the approach results in correct type I error probabilities regardless of population admixture, the true genetic model and the sampling strategy. An algorithm for computing the conditional distributions is described, and the results of the algorithm for configurations of nuclear families are presented. The algorithm is applicable with all pedigree structures and all patterns of missing marker allele information.
Copyright © 2000 S. Karger AG, Basel
- Boehnke M, Langefeld CD: Genetic association mapping based on discordant sib pairs: The discordant-alleles test. Am J Hum Genet 1998;62:950–961.
- Cleves MA, Olson JM, Jacobs KB: Exact transmission-disequilibrium tests with multiallelic markers. Genet Epidemiol 1997;14:337–347.
- Cox DR, Hinkley DV: Theoretical Statistics. New York, Halsted Press, 1974.
- Curtis D, Sham PC: A note on the application of the transmission disequilibrium test when a parent is missing. Am J Hum Genet 1995;56:811–812.
- Ewens WJ, Spielman RS: The transmission/disequilibrium test: History subdivision, and admixture. Am J Hum Genet 1995;57:455–464.
- Falk CT, Rubinstein P: Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 1987;51:227–233.
- Knapp M: The transmission/disequilibrium test and parental-genotype reconstruction: The reconstruction-combined transmission/disequilibrium test. Am J Hum Genet 1999;64:861–870.
- Kaplan NL, Martin ER, Weir BS: Power studies for the transmission/disequilibrium tests with multiple alleles. Am J Hum Genet 1997;60:691–702.
- Lazzeroni LC, Lange K: A conditional inference framework for extending the transmission/disequilibrium test. Hum Hered 1998;48:67–81.
- Martin ER, Kaplan NL, Weir BS: Tests for linkage and association in nuclear families. Am J Hum Genet 1997;61:439–448.
- Rabinowitz D: A transmission disequilibrium test for quantitative trait loci. Hum Hered 1997;47:342–350.
- Schaid DJ, Li H: Genotype relative-risks and association tests for nuclear families with missing parental data. Genet Epidemiol 1997;14:1113–1118.
- Spielman RS, Ewens WJ: A sib-ship test for linkage in the presence of association: The sib transmission/disequilibrium test. Am J Hum Genet 1998;62:450–458.
- 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;52:506–516.
- Terwilliger JD, Ott J: A haplotype-based ‘haplotype relative risk’ approach to detecting allelic associations. Hum Hered 1992;42:337–346.
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Received: Received: February 2, 1999
Revision received: March 23, 1999
Accepted: April 1, 1999
Number of Print Pages : 13
Number of Figures : 1, Number of Tables : 10, Number of References : 15
Human Heredity (International Journal of Human and Medical Genetics)
Founded 1950 as Acta Genetica et Statistica Medica by Gunnar Dahlberg; Continued by M. Hauge (1965–1983)
Vol. 50, No. 4, Year 2000 (Cover Date: July-August 2000 (Released April 2000))
Journal Editor: J. Ott, New York, N.Y.
ISSN: 0001–5652 (print), 1423–0062 (Online)
For additional information: http://www.karger.ch/journals/hhe
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