Twin study

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Twin studies can help determine the proportion of cases of a disease that are due to inherited versus environmental factors.[1]


Hawkes proposed the following types of twin studies:[1]

Classical twin method

The classical twin method compares outcome concordance rates in monozygotic and dizygotic twins. The classic twin study calculated the following measures:[2]

  • A: additive genetic variance
  • D: dominance genetic variance
  • C: common environmental variance
  • E: unique environmental variance

Inheritability is the difference in concordance rates between the monozygotic and dizygotic twins. For example if 100% of the pairs of monozygotic twins are concordant whereas 50% of the dizygotic twins are concordant, then the inheritability is 100%.[1][3]

Where r = "the correlation of liability derived from the concordance rate."[1][3]

Co-twin control method

In the co-twin control method, discordant monozygotic are closely compared which creates matched pair control. In this design, a single pair of twins may sometimes suffice.

Biometrical genetic methods

Problems with twin studies

Prenatal environment

Twin studies assume that monozygous and dizygous twins have similar prenatal environments; however, the fetal environments of monozygous and dizygous twins may differ.[4][5]

As a separate problem, about one third of monozygotic twins are dichorionic. Dichorionic type twins have separate sets of fetal membranes due to their common ovum having divided at an early stage.[4] The importance of this can be shown in studies that find different rates of concordance between monozygotic twins that are monochorionic verus dichorionic.[6] Some experts propose that twin studies should exclude monozygotic monochorionic pairs and monozygous dichorionic pairs with different birthweights.[4]

Methods of recruiting twins for study

Twins should be recruited from regional and national registries such as the Swedish Twin Registry.[7]. Recruiting volunteer pairs may bias towards monozygotic concordance.[1]


  1. 1.0 1.1 1.2 1.3 1.4 Hawkes CH (1997). "Twin studies in medicine--what do they tell us?". QJM 90 (5): 311–21. DOI:10.1093/qjmed/90.5.311. PMID 9205666. Research Blogging.
  2. Spector, Tim D., Harold Snieder, and Alex J. MacGregor. 2000. Advances in Twin and Sib-pair Analysis. 1st ed. Greenwich Medical Media. ISBN 1841100048
  3. 3.0 3.1 McGue M (1992). "When assessing twin concordance, use the probandwise not the pairwise rate.". Schizophr Bull 18 (2): 171-6. DOI:10.1093/schbul/18.2.171. PMID 1621065. Research Blogging.
  4. 4.0 4.1 4.2 Phillips DI (1993). "Twin studies in medical research: can they tell us whether diseases are genetically determined?". Lancet 341 (8851): 1008–9. PMID 8096890[e]
  5. Sørensen TI (2002). "Contributions and potentials of Swedish twin research". J. Intern. Med. 252 (3): 181–3. PMID 12269999[e]
  6. Loos RJ, Beunen G, Fagard R, Derom C, Vlietinck R, Phillips DI (2001). "Twin studies and estimates of heritability". Lancet 357 (9266): 1445. DOI:10.1016/S0140-6736(00)04594-3. PMID 11360946. Research Blogging.
  7. Lichtenstein P, De Faire U, Floderus B, Svartengren M, Svedberg P, Pedersen NL (2002). "The Swedish Twin Registry: a unique resource for clinical, epidemiological and genetic studies". J. Intern. Med. 252 (3): 184–205. PMID 12270000[e]

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