Advertisement

Key Concepts in Genetic Epidemiology

  • Kalliope PanoutsopoulouEmail author
  • Eleanor Wheeler
Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1793)

Abstract

Genetic epidemiology is a discipline closely allied to traditional epidemiology that deals with the analysis of the familial distribution of traits. It emerged in the mid-1980s bringing together approaches and techniques developed in mathematical and quantitative genetics, medical and population genetics, statistics and epidemiology. The purpose of this chapter is to familiarize the reader with key concepts in genetic epidemiology as applied at present to unveil the familial and genetic determinants of disease and the joint effects of genes and environmental exposures.

Key words

Genetic epidemiology Mendelian genetics Genes Deoxyribonucleic acid Alleles Single nucleotide polymorphism Recombination Linkage disequilibrium Population genetics Kinship Identity-by-descent Identity-by-state Hardy-Weinberg equilibrium Heritability Association Odds ratio 

References

  1. 1.
    ENCODE Project Consortium (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489:57–74.  https://doi.org/10.1038/nature11247 CrossRefGoogle Scholar
  2. 2.
    Flicek P, Ahmed I, Amode MR et al (2013) Ensembl 2013. Nucleic Acids Res 41:D48–D55.  https://doi.org/10.1093/nar/gks1236 CrossRefPubMedGoogle Scholar
  3. 3.
    Meyer LR, Zweig AS, Hinrichs AS et al (2013) The UCSC genome browser database: extensions and updates 2013. Nucleic Acids Res 41:D64–D69.  https://doi.org/10.1093/nar/gks1048 CrossRefPubMedGoogle Scholar
  4. 4.
    Ritchie GR, Flicek P (2014) Computational approaches to interpreting genomic sequence variation. Genome Med 6:87.  https://doi.org/10.1186/s13073-014-0087-1 CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Carlberg C, Molnár F (2016) Mechanisms of gene regulation. Springer, Netherlands.  https://doi.org/10.1007/978-94-007-7905-1 CrossRefGoogle Scholar
  6. 6.
    Sonenberg N, Hinnebusch AG (2009) Regulation of translation initiation in eukaryotes: mechanisms and biological targets. Cell 136:731–745.  https://doi.org/10.1016/j.cell.2009.01.042 CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Teare MD (2011) Genetic epidemiology. Humana Press, New YorkCrossRefGoogle Scholar
  8. 8.
    Pritchard JK, Przeworski M (2001) Linkage disequilibrium in humans: models and data. Am J Hum Genet 69:1–14.  https://doi.org/10.1086/321275 CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Hill WG, Robertson A (1968) Linkage disequilibrium in finite populations. Theor Appl Genet 38:226–231.  https://doi.org/10.1007/BF01245622 CrossRefPubMedGoogle Scholar
  10. 10.
    Cardon LR, Abecasis GR (2003) Using haplotype blocks to map human complex trait loci. Trends Genet 19:135–140.  https://doi.org/10.1016/S0168-9525(03)00022-2 CrossRefPubMedGoogle Scholar
  11. 11.
    Risch N (1990) Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46:222–228PubMedPubMedCentralGoogle Scholar
  12. 12.
    Fisher RA (1918) The correlation between relatives on the supposition of Mendelian inheritance. Trans R Soc Edinburgh 52:399–433CrossRefGoogle Scholar
  13. 13.
    Cordell HJ, Clayton DG (2005) Genetic association studies. Lancet 366:1121–1131.  https://doi.org/10.1016/S0140-6736(05)67424-7 CrossRefPubMedGoogle Scholar
  14. 14.
    Cardon LR, Palmer LJ (2003) Population stratification and spurious allelic association. Lancet 361:598–604.  https://doi.org/10.1016/S0140-6736(03)12520-2 CrossRefPubMedGoogle Scholar
  15. 15.
    Anderson CA, Pettersson FH, Clarke GM et al (2010) Data quality control in genetic case-control association studies. Nat Protoc 5:1564–1573.  https://doi.org/10.1038/nprot.2010.116 CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Price AL, Zaitlen NA, Reich D et al (2010) New approaches to population stratification in genome-wide association studies. Nat Rev Genet 11:459–463.  https://doi.org/10.1038/nrg2813 CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Schaid DJ (1999) Likelihoods and TDT for the case-parents design. Genet Epidemiol 16:250–260.  https://doi.org/10.1002/(SICI)1098-2272(1999)16:3<250::AID-GEPI2>3.0.CO;2-T CrossRefPubMedGoogle Scholar
  18. 18.
    Camp NJ (1997) Genomewide transmission/disequilibrium testing—consideration of the genotypic relative risks at disease loci. Am J Hum Genet 61:1424–1430.  https://doi.org/10.1086/301648 CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Wellcome Sanger InstituteWellcome Genome CampusHinxtonUnited Kingdom

Personalised recommendations