Interaction of genetics and epidemiology in the literature

Muin J. Khoury, Terri H. Beaty, Bernice H. Cohen

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


To evaluate the extent of interraction between genetics and epidemiology in studies reported in the literature, we reviewed all the “familial/genetic” papers published in a standard epidemiology journal (American Journal of Epidemiology, AJE) and all the “epidemiology” papers published in a standard human genetics journal (American Journal of Human Genetics, AJHG) between 1966 and 1984. A variety of medline subject headings were used in this search. Computerized listings of titles, subject headings, and abstracts were reviewed. It could be shown that familial/genetic papers constituted 4.3% of all papers published in AJE and epidemiology papers constituted 16.4% of papers published in AJHG. Over time, familial/genetic studies published in AJE increased both in number and in proportion of all papers, and more family studies are using complex statistical genetic techniques. On the other hand, epidemiology papers published in AJHG did not increase in number over time, and actually decreased in relation to all papers. These papers were mostly either descriptive (eg, defining frequencies of Mendelian traits in populations) or analytical (eg, defining risk factors for chromosomal abnormalities, and other reproductive outcomes). This analysis suggests that epidemiologic methods have been widely used in the genetic literature, and that genetic methods are gaining more access to the recent epidemiology literature. Because of increasing recognition of the role of genetic factors in disease, there is a growing need to incorporate both genetic and epidemiologic methods in etiologic studies of complex disorders.

Original languageEnglish (US)
Pages (from-to)269-277
Number of pages9
JournalGenetic epidemiology
Issue number4
StatePublished - Jan 1 1986


  • genetic epidemiology
  • genetics
  • medline

ASJC Scopus subject areas

  • Epidemiology
  • Genetics(clinical)


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