What makes a good case-control study? Design issues for complex traits such as endometriosis

Krina T. Zondervan, Cardon LR, Lon R. Cardon, Kennedy SH, Stephen H Kennedy, Stephen Kennedy
Human Reproduction · 2002 · vol. 17(6) , pp. 1415–1423 · doi:10.1093/humrep/17.6.1415 · PMID:12042253 · W2146825681
Review OA: bronze CC0 ⤵ 187 in-corpus citations
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This paper reviews the principles for designing effective case-control studies, particularly for complex traits like endometriosis, emphasizing appropriate case selection and control matching to account for confounding factors.

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Abstract

The combined investigation of environmental and genetic risk-factors in complex traits will refocus attention on the case-control study. Endometriosis is an example of a complex trait for which most case-control studies have not followed the basic criteria of epidemiological study design. Appropriate control selection has been a particular problem. This article reviews the principles underlying the design of case-control studies, and their application to the study of endometriosis. Only if it is designed well is the case-control study a suitable alternative to the prospective cohort study. Use of newly diagnosed over prevalent cases is preferable, as the latter may alter risk estimates and complicate the interpretation of findings. Controls should be selected from the source population from which cases arose. Potential confounding should be addressed both in studies of environmental and genetic factors. For endometriosis, a possible design would be to: (i) use newly diagnosed cases with 'endometriotic' disease; (ii) collect information predating symptom onset; and (iii) use at least one population-based female control group matched on unadjustable confounders and screened for pelvic symptoms. In conclusion, future studies of complex traits such as endometriosis will have to incorporate both environmental and genetic factors. Only adequately designed studies will allow reliable results to be obtained and any true aetiologic heterogeneity expected to underlie a complex trait to be detected.

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Condition tags

endometriosis

MeSH descriptors

Case-Control Studies Case-Control Studies Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Environment Environment Epidemiologic Factors Epidemiologic Factors Female Female Humans Humans Risk Factors Risk Factors

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

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