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Disease concordance and sex similarity in twins

Bibliographic Data

ID11176365
AuthorsTom Marshall (0000-0001-9277-5214, University of Birmingham), E G Knox (University of Birmingham)
Year1980
Volume34
Issue1
Pages1-8
Publication date1980-03-01
Peer ReviewedYes
Open AccessNo
TypeARTICLE
VenueJournal of Epidemiology and Community Health (JOURNAL)
Journal identifiersISSN: 0143-005X • E-ISSN: 1470-2738
PublisherBMJ (PUBLISHER • GB)
DOI10.1136/jech.34.1.1
PMID6444983
OpenAlexW2036086143
LanguageEN
Citations received2
References cited7

Disease patterns in twins may show the presence of genetic or of environmental causes. Two arguments of inference have been used. Discordances between monozygotic twins have been taken to indicate the presence of environmental determinants; and high levels of concordance in monozygotic (MZ) pairs compared with dizygotic (DZ) pairs have been taken to indicate the presence of genetic causes. Neither argument is rigorous and, at this level, neither is quantitative. An investigator cannot always establish the zygosity of individual twin pairs, and many have therefore used indirect arguments, based upon Weinberg's differential method. 1 Thus, the number of MZ pairs in a randomly selected sample of twin pairs may be estimated by subtracting the number of unlike-sexed (U) from the number of like-sexed pairs (L). The proportion of MZ pairs is then (L - U)/(L + U), and of DZ pairs 2U/(L + U). Cannings 2 showed that in twins which are randomly selected, and when the proportion of males is 0·5, these formulae are maximum-likelihood estimators; also that their validity is unaffected by differential prenatal viability of MZ and DZ twins. However, in the context of investigating aetiologies we need to ask whether these relationships remain true in twins which are not selected randomly, but because a particular disease occurred in one or both of the pair. This distinction has not always been clearly made in the past. It turns out to be crucial. Smith, 3 for example, was led to an erroneous conclusion with respect to the aetiology of Down's disease. This he later recognised, 4 and showed that the formulation of a correct method for estimating the proportions of the MZ and DZ twins depended upon the prior choice of a model of pathogenesis. It was necessary to decide in advance whether the disease-determining events occurred before or after the point of MZ cleavage. Distortions of the Weinberg rule also occur in sex-linked recessive transmission where the U:L ratio among DZ pairs is other than 1:1; it is this ratio upon which the validity of the Weinberg method chiefly depends. For the investigator examining diseases the causes of which are not known, the necessity to make assumptions about the aetiology of the disease before he even begins his analysis introduces a disturbing circularity. These considerations provide the background to this paper

Biology · Concordance · Context (archaeology) · Dizygotic twins · Heritability · Monozygotic twin · Obstetrics · Similarity (geometry) · Twin study · Zygosity · Genetics · Genomic variations and chromosomal abnormalities · HIV Research and Treatment · Internal Medicine · Medicine · Virology and Viral Diseases

  • Leukaemia and childhood cancer in twins

    E G Knox, Tom Marshall et al.•Journal of Epidemiology and…•1984

  • Disease concordance and sex similarity in twins

    T P Hutchinson•Journal of Epidemiology and…•1982

  • A Note on Mongolism in Twins

    Amanda Smith•Journal of Epidemiology and…•1955

  • Twins and neural tube defects

    E G Knox•Journal of Epidemiology and…•1974

  • A Further Note on Mongolism in Twins

    A Smith, Amanda R Smith•Journal of Epidemiology and…•1960

Unique citing works2
Citations per year0.05
Citation span1982 - 1984 (3)
Citation velocityhistorical
Highly citedNo
Citation typesNeutral: 2

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