Segregation analysis of quantitative traits

References

• ABEL, L., GARCIA, A., and DEMENAIS, F., 1995, Complex segregation analysis of familial diseases with variable age of onset: comparison of different methods by a simulation study. Genetical Epidemiology, 12, 231–249.
   PubMedGoogle Scholar
• BAILEY, N. T. J., 1951, A classification of methods of ascertainment and analysis in estimating the frequencies of recessives in man. Annals of Eugenics, 16, 223–225.
   PubMedGoogle Scholar
• BEATY, T. H., 1980, Discriminating among single locus model using small pedigrees. American Journal of Medical Genetics, 6, 229–240.
   PubMedGoogle Scholar
• BEATY, T. H., and Bou GHMAN, J. A., 1986, Problems in detecting etiologic heterogeneity in genetic disease illustrated with retinitis pigmentosa. American Journal of Medical Genetics, 24, 493–504.
   PubMedGoogle Scholar
• BONNE, B., 1969, The habbanite isolate—a study in human population genetics. J. Israel Medical Ass., 77, 557–559.
   Google Scholar
• BONNEY, G. E., 1984, On statistical determination of major gene mechanisms in continuous human traits: Regressive models. American Journal of Medical Genetics, 18, 731–749.
   PubMed Web of Science ®Google Scholar
• BONNEY, G. E., 1986, Regressive logistic models for familial disease and other binary traits. Biometrics, 42, 611–625.
   PubMed Web of Science ®Google Scholar
• BONNEY, G. E., 1987, Logistic regression for dependent binary observations. Biometrics, 43, 951-973. BONNEY, G. E., LATHROP, G. M., and LALOUEL, J.-M., 1988, Combined linkage and segregation analysis using regressive models. American Journal of Human Genetics, 43, 29–37.
   Google Scholar
• BORECKI, I. B., BONNEY, I. B., RICE, T., BouCHARD, C., and RAO, D. C., 1993, Influence of genotype-dependent covariates on the outcome of segregation analysis of the body mass index. American Journal of Human Genetics, 53, 676–687.
   PubMedGoogle Scholar
• BORECKI, I. B., PROVINCE, M. A., and RAO, D. C., 1994, Power of segregation analysis for detection of major gene effects on quantitative traits. Genetical Epidemiology, 11, 409–418.
   PubMedGoogle Scholar
• CANNINGS, C., and THOMPSON, E. A., 1977, Ascertainment in the sequential sampling of pedigrees. Clinical Genetics, 12, 208–212.
   PubMedGoogle Scholar
• CHENG, L. C. H., CARMELLI, D., HUNT, S. C., and WILLIAMS, R. R., 1995, Evidence for a major gene influencing 7-year increases in diastolic blood pressure with age. American Journal of Human Genetics, 57, 1169–1177.
   PubMed Web of Science ®Google Scholar
• CHENG, L. C. H., LIVSHITS, G., CARMELLI, D., WAHRENDORF, J., and BRUNNER, D., 1998, Segregation analysis reveals a major gene effect controlling systolic blood pressure and BMI in an Israeli population Human Biology, 70, 59–76.
   Google Scholar
• CLERGET-DARPOUX, F., and BONAITI-PELLIE, C., 1992, Strategies based on market information for study of human diseases. Annals of Human Genetics, 56, 145–153.
   PubMedGoogle Scholar
• COMUZZIE, A. G., BLANGERO, J., MAHANEY, M. C., MITCHEL, B. T., HIXSON, J. E., SAMOLLOW, P. B., STERN, M. C., and mA c ctu ER, J. vv., 1995, Major gene with sex-specific effects influences fat mass in Mexican Americans. Genetical Epidemiology, 12, 475–488.
   Google Scholar
• CORESH, J., BEATY, T. H., and KWITEROVICH, P. o., 1993, Inheritance of plasma apolipoprotein B levels in families of patients undergoing coronary arteriography at an early age. Genetical Epidemiology, 10, 159–176.
   PubMedGoogle Scholar
• COTTINGM, R. W., IDURY, R. M., and SCHAFFER, A. A., 1993, Faster sequential genetic linkage computation American Journal of Human Genetics, 52, 252–263.
   Google Scholar
• DAWSON, D. V., and ELSON, R. C., 1984, A bivariate problem in human genetics ascertainment of families through a correlated trait American Journal of Human Genetics, 18, 435–448.
   Google Scholar
• DEMENAIS, F. M., 1991, Regressive logistic models for familial diseases: A formulation assuming an underlying liability model. American Journal of Human Genetics, 49, 773–785.
   PubMedGoogle Scholar
• DEMENAIS, F., and ABE LL., 1989, Robustness of the unified model to shared environmental effects in the analysis of dichotomous traits. Genetical Epidemiology, 6, 229–234.
   PubMedGoogle Scholar
• DEMENAIS, F., LATHROP, M., and LALOUEL, J. M., 1986, Robustness and power of the unified model in the analysis of quantitative measurements. American Journal of Human Genetics, 38, 228-234. DEMENAIS, F. M., MURIGANDE, C., and BONNEY, G. E., 1990, Search for faster methods of fitting the regressive models to quantitative data. Genetical Epidemiology, 7, 319–334.
   Google Scholar
• DIZIER, M.-H., BABRON, M.-C., and CLERGET-DARPOUX, F., 1996, Conclusion of LOD score analysis for family data generated under two-locus models. American Journal of Human Genetics, 58, 1338–1346.
   PubMedGoogle Scholar
• DizIER, M.-H., BONAITI-PELLIE, C., and CLERGET-DARPOUX, F., 1993, Conclusion of segregation analy-sis for family data generated under two-locus models. American Journal of Human Genetics, 53, 1338–1346.
   Google Scholar
• DuRNER, M., and GREENBERG, D. A., 1992, Effect of heterogeneity and assumed mode of inheritance on lod scores. American Journal of Medical Genetics, 42, 271–275.
   PubMedGoogle Scholar
• DURNER, M., GREENBERG, D. A., and HODGE, S. E., 1992, Inter- and intrafamilial heterogeneity: effective sampling and comparison of analysis methods. American Journal of Human Genetics, 51, 859-870. DWARKADAS, S., SCHAFFER, A. A., COTTINGHAM, R. W., Cox, A. L., KELEHER, P., and ZWAENEPOEL, W., 1994, Parallelization of general-linkage problems. Human Heredity, 44, 127–141.
   Google Scholar
• EAVES, L. j., 1994, Effect of genetic architecture on the power of human linkage studies to resolve the contribution of quantitative trait loci. Heredity, 72, 175–192.
   PubMed Web of Science ®Google Scholar
• ELSTON, R. C., 1995, `Twixt cup and lip: How intractable is the ascertainment problem? American Journal of Human Genetics, 56, 15–17.
   PubMed Web of Science ®Google Scholar
• ELSTON, R. C., and BONNEY, G. E., 1984, Sampling considerations in the design and analysis of family studies. In Genetic Epidemiology of Coronary Heart Disease: Past, Present and Future, edited by D. C Rao, R. G Elson, L. H. Kuller, M Feinlieb, C Caller and R. Havlik (New York: Alan R. Liss), pp. 349–371.
   Google Scholar
• ELSTON, R. C., and soBEL, E., 1979, Sampling considerations in the gathering and analysis of pedigree data. American Journal of Human Genetics, 31, 62–69.
   PubMed Web of Science ®Google Scholar
• ELSTON, R. C., and STEWART, J., 1971, A general model for genetic analysis of pedigree data. Human Heredity, 21, 523–542.
   PubMed Web of Science ®Google Scholar
• EWENS, W. j., and sin TE, N. C. E., 1986, A resolution of the ascertainment sampling problem. Theoretical Population Biology, 30, 388–412.
   PubMed Web of Science ®Google Scholar
• FALCONER, D. S., and MACKAY, T. F. C., 1996, Introduction to Quantitative Genetics (Harlow: Longman). FISHER, R. A., 1937, The effects of methods of ascertainment upon estimation of frequencies. Annals of Eugenics, 6, 13–25.
   Google Scholar
• FULKER, D. W., and CARDON, L. R., 1994, A sib-pair approach to interval mapping of quantitative trait loci. American Journal of Human Genetics, 54, 1092–1103.
   PubMedGoogle Scholar
• GEORGE, V. T., and ELSTON, R. C., 1991, Ascertainment: an overview of the classical segregation analysis model for independent sibships. Biomedical, 33, 741–753.
   Google Scholar
• GINSBURG, E. KH., 1997, Program package for Mendelian analysis of pedigree data (MAN). Version 4. Tech Rep. Tel-Aviv University, Tel-Aviv.
   Google Scholar
• GINSBURG, E. KH., and AXENOVICH, T. I., 1992, A cooperative binomial ascertainment model. American Journal of Human Genetics, 51, 1156–1160.
   PubMedGoogle Scholar
• GINSBURG, E. KH, and NIKORO, Z. S., 1982, Analysis of Variance and Breeding Problems (Novosibirsk: Nauka).
   Google Scholar
• GINSBURG, E. KH, FED OTOV, A. M., and CHEPK A SOV, I. L., 1986, Program Package for Testing of Major-Gene Models of Quantitative Trait, MAN-I (Novosibirsk: Inst. Cytol. Genet Press).
   Google Scholar
• GO, R. C., ELSON, R. C., and KAPLAN, E. B., 1978, Efficiency and robustness of pedigree segregation analysis. American Journal of Human Genetics, 30, 28–37.
   PubMed Web of Science ®Google Scholar
• GOLDAR, D. E., 1990, Multipoint analysis of human quantitative genetic variation. American Journal of Human Genetics, 47, 957–967.
   PubMedGoogle Scholar
• GOLDIN, L. R., and WEEKS, D. E., 1993, Two-locus models of disease: comparison of likelihood and non-parametric linkage methods. American Journal of Human Genetics, 53, 908–915.
   PubMedGoogle Scholar
• GORADIA, T. M., LANGE, K., MILLER, P. L., and NADKARNI, P. M., 1992, Fast computation of genetic likelihoods on human pedigree data. Human heredity, 42, 42–62.
   PubMedGoogle Scholar
• HALDANE, J. B. S., 1983, The estimation of the frequencies of recessive conditions in man. Annals of Eugenics, 8, 255–262.
   Google Scholar
• HASEMAN, J. K., and ELSTON, R. C., 1972, The investigation of linkage between a quantitative trait and a marker locus. Behavioural Genetics, 2, 3–19.
   PubMed Web of Science ®Google Scholar
• HASSTED T, S. j., 1994, Pedigree Analysis Package. Rev. 4.0 (Salt Lake City: Dep. Human Genetics University of Utah).
   Google Scholar
• HASSTEDT, S. j., 1995, Genotypic assortative mating in segregation analysis. Genetical Epidemiology, 12, 109–127.
   PubMedGoogle Scholar
• HODGE, S. E., 1988, Conditioning on subsets of the data: application to ascertainment and other problems. American Journal of Human Genetics, 43, 364–373.
   PubMedGoogle Scholar
• HODGE, S. E., and BOEHNKE, M., 1986, A note on Cannings and Thompson's sequential sampling scheme for pedigrees. American Journal of Human Genetics, 39, 274–281.
   PubMedGoogle Scholar
• HODGE, S. E., and VIELAND, V. j., 1996, The essence of single ascertainment Genetics, 144, 1215-1223. HODGE, S. E., ABREU, P. C., and GREENBERG, D. A., 1997, Magnitude of type error when single-locus linkage analysis maximized over models: a simulation study. American Journal of Human Genetics, 60, 217–227.
   Google Scholar
• JOHNSTON, C. C., JR., 1996, Development of clinical practice guidelines for prevention and treatment of osteoporosis. Calcified Tissue International, 1, S30–S33.
   Google Scholar
• KARASIK, D., GINSBURG, E., LIVSHITS, G., PAVLOVSKY, O., and KOBYLIANSKY, E., 1998, Evidence formajor gene control of cortical bone loss in human population. Genetical Epidemiology (in review). KEARSEY, J. K., and POONI, H. S., 1996, The genetical analysis of quantitative traits (London Chapman and Hall).
   Google Scholar
• KOROSTYSHEVSKY, M. A., 1976, Inbreeding coefficient in populations of limited size with different mar-riage schemes. In Mathematical Models of Genetical Systems (Novosibirsk: Inst. Cytology & Genetic Press), pp. 5–56.
   Google Scholar
• LALOUEL, J. M., and MORTON, N. C., 1981, Complex segregation analysis with pointers. Human Heredity, 31, 312–321.
   PubMed Web of Science ®Google Scholar
• LALOUEL, J. M., DARLU, P., HENROTTE, J. G., and RAO, D. C., 1983a, Genetic regulation of plasma and red blood cell magnesium concentrations in man. II. Segregation analysis. American Journal of Human Genetics, 35, 938–950.
   PubMed Web of Science ®Google Scholar
• LALOUEL, J. M., RAO, D. C., MORTON, N. F., and ELSTON, R. C., 1983b, A unified model for complex segregation analysis. American Journal of Human Genetics, 35, 816–826.
   PubMed Web of Science ®Google Scholar
• LANDER, E. S., and LINCOLN, S. E., 1988, The appropriate threshold for declaring linkage when allowing sex-specific recombination rates. American Journal of Human Genetics, 43, 396-4.00.
   Google Scholar
• LANGE, K., and BOEHNKE, M., 1983, Extension to pedigree analysis. V. Optimal calculation of Mendelian likelihoods. Human Heredity, 33, 291–301.
   PubMed Web of Science ®Google Scholar
• LANGE, K., and ELSON, R. C., 1975, Extension to pedigree analysis. I. Likelihood calculation for simple and complex pedigrees. Human Heredity, 25, 95–105.
   PubMed Web of Science ®Google Scholar
• LECOMTE, E., HERBERTH, B., NICAUD, V., RAKOTOVAO, R., ARTUR, Y., and TIRET, L., 1997, Segregation analysis of fat mass and fat-free mass with age- and sex-dependent effects: The Stanislas family study. Genetical Epidemiology, 14, 51–62.
   PubMed Web of Science ®Google Scholar
• LIVSHITS, G., GINSBURG, E., and KOBYLIANSKY, E., 1998, Heterogeneity of genetic control of blood pressure in ethically different populations. Human Biology, (invited paper).
   Google Scholar
• LIVSHITS, G., OTREMSKI, I., and KOBYLIANSKY, E., 1995, Genetics of human body size and shape: com-plex segregation analysis. Annals of Human Biology, 22, 13–27.
   PubMed Web of Science ®Google Scholar
• MACLEAN, C. J., MORTON, N. E., ELSTON, R. C., and YEE, S. 1976, Skewness in comingling distributions. Biometrics, 32, 695–699.
   PubMed Web of Science ®Google Scholar
• MACLEAN, C. J., MORTON, N. E., and LEW, R., 1975, Analysis of family resemblance. W. Operational characteristics of segregation analysis. American Journal of Human Genetics, 27, 365–384.
   PubMed Web of Science ®Google Scholar
• MAHANEY, M. C., BLANGERO, J., RAINWATER, D. L., COMUZZ IE, A. G., VAN DE BERG, J. L., STERN, M. P., MAcCLUER, J. W., and HixSON, J. E., 1995, A major locus influencing plasma high density lipoprotein cholesterol levels in the San Antonio family heart study. Arterosclerosis, Thrombosis and Vascular Biology, 15, 1730–1739.
   PubMedGoogle Scholar
• MATHER, K., and JINKS, J. L., 1982, Biometrical Genetics (London, New York: Chapman & Hall). MEEMA, H. E., and MEEMA, S., 1987, Postmenopausal osteoporosis: Simple screening method of diagnosis before structural failure. Radiology, 164, 405–410.
   Google Scholar
• MOLL, P. P., BERRY, T. D., WEIDMAN, W. H., ELLEFFSON, R., GORDON, H., and KOTTKE, B. A., 1984, Detection of genetic heterogeneity among pedigrees through complex segregation analysis: an application to hyperholesteremia. American Journal of Human Genetics, 36, 197–211.
   PubMedGoogle Scholar
• MOLL, P. P., MICHAELS, V. V., WEIDMAN, W. H., and KOTTKE, B. A., 1989, Genetic determination of plasma apolipoprotein AT in a population-based sample. American Journal of Human Genetics, 44, 124–139.
   PubMed Web of Science ®Google Scholar
• MORTON, N. E., 1993, Genetic epidemiology. Annual Review of Genetics, 27, 523–538.
   PubMedGoogle Scholar
• MORTON, N. E., and MACLEAN, C. J., 1974, Analysis of family resemblance. III. Complex segregation of quantitative traits. American Journal of Human Genetics, 26, 489–503.
   PubMed Web of Science ®Google Scholar
• NEUMAN, R. J., and RICE, j., 1992, Two-locus models of disease. Genetical Epidemiology, 9, 347-365. OTT, J., 1974, Estimation of the recombination fraction in human pedigree: efficient computation of the likelihood for human linkage studies. American Journal of Human Genetics, 26, 588-597. PEARSON, K., 1893, Contribution to the mathematical theory of evolution. Philosophical Transactions, A, 185, 71–110.
   Google Scholar
• PERUSSE, L., MOLL, P. P., and SING, C. F., 1991, Evidence that a single gene with gender- and age-dependent effects influences systolic blood pressure determination in a population-based sample. American Journal of Human Genetics, 49, 94–105.
   PubMed Web of Science ®Google Scholar
• PLATO, C. C., Fox, K. M., and TOBIN, J. D., 1994, Skeletal changes in human aging. In Biological Anthropology and Aging, edited by D. E. Crews and R. M Garruto (New-York: Oxford University Press), pp. 272–300.
   Google Scholar
• RAO, D. C., and MORTON, N. E., 1980, Path analysis of quantitative inheritance. In Current Developments in Anthropological Genetics, vol. 1. Theory and methods, edited by J. H. Mielke and M H. Crawford (New York: Plenum press), pp. 355–371.
   Google Scholar
• REBBECK, T. R., TURNER, S. T., MICHELS, V. V., and MOLL, P. P., 1991, Genetic and environmental explanation for the distribution of sodium-lithium countertransport in pedigrees from Rochester, MN. American Journal of Human Genetics, 48, 1092–1104.
   PubMedGoogle Scholar
• RICE, J., BORECKI, I. B., BouCHARD, C., and RA o, D. C., 1993, Segregation analysis of fat mass and other composition measures derived from underwater weighing. American Journal of Human Genetics, 52, 967–973.
   PubMed Web of Science ®Google Scholar
• RICE, J., CLONINGER, C. R., and REICH, T., 1978, Multifactorial inheritance with cultural transmission and assortative mating. I. Description and basic properties of the unitary models. American Journal of Human Genetics, 30, 618–643.
   PubMed Web of Science ®Google Scholar
• RISC H, N., 1990a, Linkage strategies for genetically complex traits. Multilocus models. American Journal of Human Genetics, 46, 223–228.
   Google Scholar
• RISC H, N., 1990b, Linkage strategies for genetically complex traits. The power of affected relative pairs. American Journal of Human Genetics, 46, 229–241.
   PubMedGoogle Scholar
• RISC H, N., 1990c, Linkage strategies for genetically complex traits. Effect of marker polymorphism on analysis of affected relative pairs. American Journal of Human Genetics, 46, 242–253.
   PubMedGoogle Scholar
• S.A.G.E., 1994, 'Statistical Analysis for Genetic Epidemiology, Release 2.2.' Computer program package available from the Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.
   Google Scholar
• SCHORK, N. j., 1992, Detection of genetic heterogeneity for complex quantitative phenotypes. Genetical Epidemiology, 9, 207–223.
   PubMedGoogle Scholar
• SCHORK, N. J., BOEHNKE, M., TERWILLINGER, J. D., and OTT, J., 1993, Two-trait-locus linkage analysis: a powerful strategy for mapping complex genetic traits. American Journal of Human Genetics, 53, 1127–1136.
   PubMed Web of Science ®Google Scholar
• SELF, S. G., and LIANG, K.-Y., 1987, Asympotic properties of maximum likelihood estimators and likelihood ratio tests under non-standard conditions. Journal of American Statistical Assessment, 82, 605–610.
   Google Scholar
• SHAPIRO, A., 1985, Asymptotic distribution of test statistics in the analysis of moment structures under inequality constraints. Biometrika, 72, 133–144.
   Web of Science ®Google Scholar
• SHUTE, N. C. E., and EWENS, W. J., 1988, A resolution of the ascertainment sampling problem. III. Pedigrees. American Journal of Human Genetics, 43, 387–395.
   PubMedGoogle Scholar
• STENE, j., 1977, Assumptions for different ascertainment models in human genetics. Biometrics, 33, 523–527.
   PubMedGoogle Scholar
• THODAY, J. m., 1961, Location of polygenes. Nature, 191, 358–370.
   Google Scholar
• THOMPSON, E., 1987, Likelihoods in pedigree analysis under sequential sampling. American Journal of Human Genetics, 41, 687–689.
   PubMedGoogle Scholar
• THOMPSON, E. A, and CANNINGS, C., 1979, Sampling schemes and ascertainment In Sing C. F, Skolnick M (eds) Genetic Analysis of Common diseases: application to predictive factors in coronary disease. Alan R. Liss, New York, pp. 363–382.
   Google Scholar
• VIELAND, V. J., and HODGE, S.F., 1995, Inherent intractability of the ascertainment problem for pedigree data: A general likelihood framework. American Journal of Human Genetics, 56, 33–43.
   PubMedGoogle Scholar
• VIELAND, V. J., and HODGE, S. E., 1996, The problem of ascertainment for linkage analysis. American Journal of Human Genetics, 58, 1072–1084.
   PubMed Web of Science ®Google Scholar
• WEINBERG, W., 1901, Beiträge zur Physiologie und Pathologie der Mehrlingsgeburten beim Menschen Arch Ges. Physiol, 88, 316 1130.
   Google Scholar
• WEINBERG, W., 1912, Further contributions to the theory of heredity. W. Cn methods and sources of error in studies of Mendelian ratios in man. Archiv fur Rassen- und Gesellschafts-biologie, 9, 165–174.
   Google Scholar
• WEINBERG, W., 1927, Mathematische Grundlagen der Probandenmethode. Z. Induktive Abstammungs Vererbungslehre, 48, 179–228.
   Google Scholar