Common terms used in genetics with multiple meanings are explained and a brief overview given of the four major areas of genetic epidemiology - the study of familial aggregation, segregation, cosegregation and association. Familial aggregation measures the potential for a trait to have a genetic aetiology. Segregation analysis uncovers single gene segregation. Cosegregation with genetic markers gives rise to linkage, which is used to locate trait genes on the genome. Association analysis is used for fine mapping, but rests on the assumption that linkage disequilibrium exists.
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References
1.
King, RC.A dictionary of genetics, 5th edn.New York: Oxford University Press , 1996.
2.
Thompson EA.Genetic epidemiology: a review of the statistical basis . Statistics in Medicine1986; 5: 291-302 .
3.
Olson JM , Witte JS , Elston RC.Genetic mapping of complex traits . Statistics in Medicine1999; 18: 2961-2981 .
4.
Lynch M , Walsh B.Genetics and analysis of quantitative traits. Sunderland: Sinauer Associates , 1997.
5.
Olson JM.Relationship estimation by Markov process models in a sib-pair linkage study . American Journal of Human Genetics1999; 64: 1464-1472 .
6.
Elston RC , Boklage CE.An examination of fundamental assumptions of the twin method. In Nance WE ed. Twin research: psychology and methodology. New York: AR Liss , 1978: 189-199.
7.
Hopper JL.Twin concordance. Encyclopedia of biostatistics, Vol. 6. New York: John Wiley , 1998: 4626-4629.
8.
Neale MC.Adoption studies. Encyclopedia of biostatistics, Vol. 1. New York: John Wiley , 1998: 77-81.
9.
Karlin S , Cameron EC , Williams PT.Sibling and parent-offspring correlation estimation with variable family size . Proceedings of the National Academy of Science of the United States of America1981; 78: 2664-2668 .
10.
Srivastava MS , Keen KJ.Estimation of the interclass correlation coefficient . Biometrika1988; 75: 159-165 .
11.
Keen KJ.Limiting the effects of single member families in the estimation of the intraclass coefficient . Biometrika1996; 78: 225-228 .
12.
Chakraborty R , Hanis CL.Non-random sampling in human genetics: estimation of familial correlations, model testing, and interpretation . Statistics in Medicine1987; 6: 629-646 .
13.
Elston RC.Segregation analysis . Advances in Human Genetics1981; 11: 63-120 .
14.
Elston RC , Stewart J.A general model for the genetic analysis of pedigree data . Human Heredity1971; 21: 523-542 .
15.
Lalouel JM , Rao DC , Morton NE , Elston RC.A unified model for complex segregation analysis . American Journal of Human Genetics1983; 35: 816-826 .
16.
Bonney GE.On the statistical determination of major gene mechanisms in continuous human traits: regressive models . American Journal of Medical Genetics1984; 18: 731-774 .
17.
Bonney GE.Regressive models for family disease and other binary traits . Biometrics1986; 42: 611-625 .
18.
Bonney GE.Compound regressive models for family data . Human Heredity1992; 42: 28-41 .
19.
Elston RC.Some recent developments in the theoretical aspects of segregation analysis. In Majumder PP ed. Human population genetics. New York: Plenum , 1993: 117-137.
20.
Fisher RA.The effect of methods of ascertainment upon the estimation of frequencies . Annals of Eugenics1934; 6: 13-25 .
21.
Elston RC , Sobel E.Sampling considerations in the gathering and analysis of pedigree data . American Journal of Human Genetics1979; 31: 62-69 .
22.
Cleves MA , Elston RC.Alternative test for linkage between two loci . Genetic Epidemiology1997; 14: 117-131 .
23.
Ott J.Analysis of human genetic linkage, 3rd edn.Baltimore, MD: Johns Hopkins University Press , 1999.
24.
Morton NE.Sequential tests for the detection of linkage . American Journal of Human Genetics1955; 7: 277-318 .
25.
Haseman JK , Elston RC.The investigation of linkage between a quantitative trait and a marker locus . Behavior Genetics1972; 2: 3-19 .
26.
Blackwelder WC , Elston RC.A comparison of sib-pair linkage tests for disease susceptibility loci . Genetic Epidemiology1985; 16: 93-104 .
27.
Risch N.Linkage strategies for genetically complex traits III. The effect of marker polymorphisms on analysis of relative pairs . American Journal of Human Genetics1990; 46: 242-253 .
28.
Holmans P.Asymptotic properties of affected-sib-pair linkage analysis . American Journal of Human Genetics1993; 52: 362-374 .
Allison DB , Neale MC , Zannoli R , Schork NJ , Amos CI , Blangero J.Testing the robustness of the likelihood ratio test in a variance-component quantitative trait loci (QTL) mapping procedure . American Journal of Human Genetics1999; 65: 531-544 .
31.
Elston RC , Buxbaum S , Jacobs KB , Olson JM.Haseman and Elston revisited . Genetic Epidemiology2000; 19: 369-372 .
32.
Risch N , Merikangas K.The future of genetic studies of complex human diseases . Science1996; 273: 1516-1517 .
33.
Hodge SE , Elston RC.Lods, wrods, and mods: the interpretation of lod scores calculated under different models . Genetic Epidemiology1994; 11: 329-342 .
34.
Thomson G.Mapping disease genes: family-based association studies . American Journal of Human Genetics1995; 57: 487-498 .
35.
Spielman RS , McGinnis RE , Ewens WJ.Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus . American Journal of Human Genetics1993; 52: 506-516 .
36.
Falk CT , Rubinstein P.Haplotype relative risks: an easy way to construct a proper control sample for risk calculations . Annals of Human Genetics1987; 51: 227-233 .
37.
McNemar Q.Note on the sampling error of the difference between correlated proportions or percentages . Psychometrika1947; 12: 153-157 .
38.
Cleves MA , Olson JM , Jacobs KB.Exact transmission-disequilibrium tests with multiallelic markers . Genetic Epidemiology1997; 14: 337-347 .
39.
Zheng C , Elston RC.Multipoint linkage disequilibrium mapping with particular reference to the African-American population . Genetic Epidemiology1999; 17: 79-101 .
40.
Allison DB.Transmission-disequilibrium tests for quantitative traits . American Journal of Human Genetics1997; 60: 676-690 .
41.
George V , Tiwari HK , Zhu X , Elston RC.A test of transmission/disequilibrium for quantitative traits in pedigree data, by multiple regression . American Journal of Human Genetics1999; 65: 236-245 .
42.
Zhu X , Elston RC.Transmission/disequilibrium tests for quantitative traits . Human Heredity2001; 20: 57-74 .
