Invited Commentary
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Cases are not incidence and Vice Versa
Charles R. Scriver,
Corresponding Author
Charles R. Scriver
Centre for Human Genetics and deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada
deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, CanadaSearch for more papers by this authorCharles R. Scriver,
Corresponding Author
Charles R. Scriver
Centre for Human Genetics and deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada
deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec H3H 1P3, CanadaSearch for more papers by this author
References
- Aulehla-Schotz C, Vorgerd M, Sautter E, Leupold D, Mahlmann R, Ullrich K, Olek K, Horst J (1988): Phenylketonuria: Distribution of DNA diagnostic patterns in German families. Hum Genet 78: 353–355.
- Baird PA, Anderson TW, Newcombe HB, Lowry RB (1988): Genetic disorders in children and young adults. A population study. Am J Hum Genet 42: 677–693.
- Barsky AJ (1988): The paradox of health. N Engl J Med 318: 414–418.
- Bouchard C (1986): Heredity and trainability. In JR Sutton, RM Brock (eds): “ Sports Medicine for the Mature Athlete.” Indianapolis: Benchmark Press Inc., pp 81–89.
- Bouchard C, Lesage R, Lortie G, Simoneau J-A, Hamel P, Boulay MR, Perusse L, Theriault G, LeBlanc C (1986a): Aerobic performance in brothers, dizygotic and monozygotic twins. Med Sci Sports Exerc 18: 639–646.
-
Bouchard C,
Simoneau JA,
Lortie G,
Boulay MR,
Marcotte M,
Thibault MC
(1986b):
Genetic effects in human skeletal muscle fiber type distribution and enzyme activities.
Can J Physiol Pharmacol
64:
1254–1251.
10.1139/y86-210 Google Scholar
- Brown MS, Goldstein JL (1986): A receptor-mediated pathway for cholesterol homeostasis. Science 232: 34–47.
- Childs B, Scriver CR (1986): Age at onset and causes of disease. Perspect Biol Med 29: 437–460.
- Cooper DN, Clayton JF (1988): DNA polymorphism and the study of disease associations. Hum Genet 78: 299–312.
- Costa T, Scriver CR, Childs B (1985): The effect of Mendelian disease on human health: A measurement. Am J Med Genet 21: 231–242.
-
Deeb S,
Failor A,
Brown BG,
Brunzell JD,
Albers JJ,
Motulsky AG
(1986):
Molecular genetics of apolipoproteins and coronary heart disease.
Cold Spring Harbor Symp Quant Biol
Vol. LI:
403–409.
10.1101/SQB.1986.051.01.048 Google Scholar
- Garrod AE (1931): “ The Inborn Factors in Disease.” Clarendon: Oxford Press, 1931.
- Goldstein JL, Brown MS (1988): Familial Hypercholesterolemi a. In CR Scriver, AL Beaudet, W Sly, E Valle (eds): “ The Metabolic Basis of Inherited Disease,” 6th ed. New York: McGraw Hill Book Co., in press.
- Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG, Campbell ED, Levinski MJ (1973): Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 52: 1544–1568.
- Gori GB, Richter BJ (1978): Macroeconomics of disease. Prevention in the United States. Science 200: 1124–1130.
- Gregory D, Kaplan P, Scriver CR (1984): Genetic causes of chronic musculoskeletal disease in childhood are common. Am J Med Genet 19: 533–538.
- Guttler F, Ledley FD, Lidsky AS, DiLella AG, Sullivan SE, Woo SLC (1987): Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr 110: 68–71.
- Hamel P, Simoneau J-A, Lortie G, Boulay MR, Bouchard C (1986): Heredity and muscle adaptation to endurance training. Med Sci Sports Exerc 18: 690–696.
- Hansen MF, Cavenee WK (1988): Retinoblastoma and the progression of tumor genetics. Trends Genet 4: 125–128.
- Harper AE (1987): Transitions in health status: Implications for dietary recommendations. Am J Clin Nutr 45: 1094–1107.
- Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL (1987): Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with Familial Hypercholesterolemia. N Engl J Med 317: 734–737.
- John S, Rozen R, Laframboise R, Laberge C, Scriver CR (1988): RFLP haplotypes associated with hyperphenylalaninemia alleles at the phenylalanine hydroxylase (PAH) locus in French-Canadians. Am J Hum Genet Abstract, in press
- Jomphe M, Bouchard G, Davignon J, De Braekeleer, M, Gradie M, Kessling A, Laberge C, Moorjani S, Morgan K, Roy M, Scriver C (1988): Familial hypercholesterolemia in French-Canadians: Geographical distribution and centre of origin of an LDL-receptor deletion mutatio n. Am J Hum Genet Abstract, in press.
- Khoury MJ, Adams JrMJ, Flanders WD (1988): An epidemiologic approach to ecogenetics. Am J Hum Genet 42: 89–95
- Lalonde M (1974): A new perspective on the health of Canadians. A working document. Government of Canada. Ottawa.
- Loomis WF (1970): Rickets. Sci Am 223: 77–91.
- McKusick VA (1986): Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes, 7th edition. Baltimore: Johns Hopkins Press pp IXXXVII, 1–1741.
- Motulsky AG (1984): Genetic epidemiology. Genet Epidemiol 1: 143–144.
- Poehlman ET, Despres JP, Marcotte M, Tremblay A, Theriault G, Bouchard C (1986): Genotype dependency of adaptation in adipose tissue metabolism after short-term overfeeding. Am J Physiol 250: E480–E485.
- Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray J-M, Frézal J, Munnich A, Rey R (1988): Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet, in press.
- Rose G (1985): Sick individuals and sick populations. In J Epidemiol 14: 32–38.
- Scriver CR (1982): Window panes of eternity. Health, disease, and inherited risk. Yale J Biol Med 55: 487–513.
- Scriver CR (1985a): Population screening: Report of a workshop. In M Marois (ed): “ Prevention of Physical and Mental Congenital Defects. Part B. Epidemiology, Early Detection and Therapy and Environmental Factors.” New York: Alan R. Liss, Inc., pp 89–152.
- Scriver CR, Gregory DM, Sovetts D, Tissenbaum D (1985b): Normal plasma free amino acid values in adults: The influence of some common physiological variables. Metabolism 34: 868–873.
- Scriver CR, Mahon B, Levy HL, Clow CL, Reade TM, Kronick J, Lemieux B, Laberge C (1987): The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet 40: 401–412.
- Scriver CR, Tenenhouse HS (1981): On the heritability of rickets, a common disease (Mendel, mammals and phosphate). Johns Hopkins Med J 149: 179–187.
- Sorensen TIA, Nielson GG, Andersen PK, Teasdale TW (1988): Genetic and environmental influences on premature death in adult adoptees. N Engl J Med 318: 727–732.
- Thibault M-C, Simoneau J-A, Boulay MR, Lagasse P, Marcotte M, Bouchard C (1986): Inheritance of human muscle enzyme adaptation to isokinetic strength training. Hum Hered 36: 341–347.
- Todd JA, Bell JI, McDevitt HO (1987): HLA-DQ β gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329: 599–604.
- Williams RJ (1956): “ Biochemical individuality. The Basis for the Genetotrophic Concept.” New York: John Wiley and Sons, Science Editions 1963, p 3.
- World Health Organization (1980): “ International Classification of Impairments, Disabilities, and Handicaps.” Geneva: WHO.
- Ziman J (1979): “ Reliable Knowledge. An Exploration of the Grounds for Belief in Science.” New York: Cambridge Univ. Press, 1979.