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Methodological Issues in Genetic Association Studies of Inherited Thrombophilia: Original Report of Recent Practice

Clinical Institute of Chemistry, Sestre milosrdnice University Hospital, Zagreb, Croatia, am.simundic@ gmail.com

Nora Nikolac, BSc

Clinical Institute of Chemistry, Sestre milosrdnice University Hospital, Zagreb, Croatia

Elizabeta Topic, PhD

Clinical Institute of Chemistry, Sestre milosrdnice University Hospital, Zagreb, Croatia

The aims of this article are to evaluate the methodological quality of genetic association studies on the inherited thrombophilia published during 2003 to 2005, to identify the most common mistakes made by authors of those studies, and to examine if overall quality of the article correlates with the quality of the journal. Articles were evaluated by 2 independent reviewers using the checklist of 16 items. A total of 58 eligible studies were identified. Average total score was 7.59 ± 1.96. Total article score did not correlate with the journal impact factor (r = 0.3971; 95% confidence interval [CI], 0.1547-0.5944, P = .002). Total score did not differ across years (P = .624). Finally, it is concluded that methodological quality of genetic association studies is not optimal, and it does not depend on the quality of the journal. Journals should adopt methodological criteria for reporting the genetic association studies, and editors should encourage authors to strictly adhere to those criteria.

Key Words: research design • case-control studies • genetic polymorphism • causality • genetics

This version was published on June 1, 2009

Clinical and Applied Thrombosis/Hemostasis, Vol. 15, No. 3, 327-333 (2009)
DOI: 10.1177/1076029608315162


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