ACE model

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The ACE model is a statistical model commonly used to analyze the results of twin and adoption studies. This classic behaviour genetic model aims to partition the phenotypic variance into three categories: additive genetic variance (A), common (or shared) environmental factors (C), and specific (or nonshared) environmental factors plus measurement error (E). [1] It is widely used in genetic epidemiology and behavioural genetics. [2] [3] The basic ACE model relies on several assumptions, including the absence of assortative mating, [4] that there is no genetic dominance or epistasis, [5] that all genetic effects are additive, and the absence of gene-environment interactions. [3] In order to address these limitations, several variants of the ACE model have been developed, including an ACE-β model, which emphasizes the identification of causal effects, [3] and the ACDE model, which accounts for the effects of genetic dominance. [6]

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References

  1. Germine, Laura; Russell, Richard; Bronstad, P. Matthew; Blokland, Gabriëlla A.M.; Smoller, Jordan W.; Kwok, Holum; Anthony, Samuel E.; Nakayama, Ken; Rhodes, Gillian (October 2015). "Individual Aesthetic Preferences for Faces Are Shaped Mostly by Environments, Not Genes". Current Biology. 25 (20): 2684–2689. Bibcode:2015CBio...25.2684G. doi:10.1016/j.cub.2015.08.048. ISSN   0960-9822. PMC   4629915 . PMID   26441352.
  2. Maes, Hermine H. (2005-10-15). ACE Model. Chichester, UK: John Wiley & Sons, Ltd. doi:10.1002/0470013192.bsa002. ISBN   978-0470860809.{{cite encyclopedia}}: |journal= ignored (help)
  3. 1 2 3 Kohler, Hans-Peter; Behrman, Jere R.; Schnittker, Jason (2011). "Social science methods for twins data: integrating causality, endowments, and heritability". Biodemography and Social Biology. 57 (1): 88–141. doi:10.1080/19485565.2011.580619. ISSN   1948-5565. PMC   3158495 . PMID   21845929.
  4. Beauchamp, Jonathan P.; Cesarini, David; Johannesson, Magnus; Lindqvist, Erik; Apicella, Coren (2010-07-06). "On the sources of the height–intelligence correlation: New insights from a bivariate ACE model with assortative mating". Behavior Genetics. 41 (2): 242–252. doi:10.1007/s10519-010-9376-7. ISSN   0001-8244. PMC   3044837 . PMID   20603722.
  5. Lawlor, Debbie A.; Lawlor, Deborah A.; Mishra, Gita D. (2009-04-02). Family Matters: Designing, Analysing and Understanding Family Based Studies in Life Course Epidemiology. OUP Oxford. pp. 252–3. ISBN   9780199231034.
  6. Wang, Xueqin; Guo, Xiaobo; He, Mingguang; Zhang, Heping (2011-02-09). "Statistical Inference in Mixed Models and Analysis of Twin and Family Data". Biometrics. 67 (3): 987–995. doi:10.1111/j.1541-0420.2010.01548.x. ISSN   0006-341X. PMC   3129472 . PMID   21306354.

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