Statistical Genetic Terminology

Part of the Methods in Molecular Biology book series (MIMB, volume 1666)


Common terms used in statistical genetics with multiple meanings are explained and the terminology used in subsequent chapters is defined. Statistical human genetics has existed as a discipline for over a century, and during that time the meanings of many of the terms used have evolved, largely driven by molecular discoveries, to the point that molecular geneticists, statistical geneticists, and statisticians often have difficulty understanding each other. It is therefore imperative, now that so much of molecular genetics is becoming an in silico and statistical science, that we have a well-defined, common terminology.

Key words

Gene Allele Locus Site Genotype Phenotype Dominant Recessive Codominant Additive Phenoset Diallelic Multiallelic Polyallelic Monomorphic Monoallelic Polymorphism Mutation Complex trait Multifactorial Polygenic Monogenic Mixed model Transmission probability Transition probability Epistasis Interaction Pleiotropy Quantitative trait locus Probit Logit Penetrance Transformation Scale of measurement Identity by descent Identity in state Kinship coefficient Haplotype Phase Multilocus genotype Allelic association Linkage disequilibrium Gametic phase disequilibrium 



This work was supported in part by the following grants from the National Institutes of Health, USA: P41RR003655 (RCE) and R01CA137420 (JMS).


  1. 1.
    Gerstein MB et al (2007) What is a gene, post-ENCODE? History and updated definition. Genome Res 17:669–681CrossRefPubMedGoogle Scholar
  2. 2.
    Ford EB (1940) Polymorphism and taxonomy. In: Huxley J (ed) The new systematics, Oxford University PressGoogle Scholar
  3. 3.
    Elston RC, Stewart J (1971) A general model for the genetic analysis of pedigree data. Hum Hered 21:523–542CrossRefPubMedGoogle Scholar
  4. 4.
    Lewontin RC (1964) The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49:49–67PubMedPubMedCentralGoogle Scholar
  5. 5.
    Wang X, Elston RC, Zhu X (2010) The meaning of interaction. Hum Hered 70:269–277CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Wang X, Elston R, Zhu X (2010) Statistical interaction in human genetics: how should we model it if we are looking for biological interaction? Nat Rev Genet 12:74. doi: 10.1038/nrg2579-c2 CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Ziegler A, König IR (2010) A statistical approach to genetic epidemiology: concepts and applications, 2nd edn. Wiley-VCH, WeinheimCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Robert C. Elston
    • 1
  • Jaya Satagopan
    • 2
  • Shuying Sun
    • 3
  1. 1.Case Western Reserve UniversityClevelandUSA
  2. 2.Memorial Sloan Kettering Cancer CenterNew YorkUSA
  3. 3.Texas State UniversitySan MarcosUSA

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