Naslov
Methodological issues in genetic association studies of inherited thrombophilia: original report of recent practice

Autori
Šimundić, Ana-Maria ; Nikolac, Nora ; Topić, Elizabeta

Izvornik
Clinical and Applied Thrombosis/Hemostasis (1076-0296) 15 (2009), 3; 327-333

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
research design; genetic polymorphism; case-control studies; causality; genetics

Sažetak
Background and Purpose: Genetic association studies suffer from some serious shortcomings in the study design and data analysis. Our aim was to evaluate the methodological quality of genetic association studies on the inherited thrombophilia published during 2003 – 2005. We also aimed to identify the most common mistakes made by authors of those studies and to see whether the overall quality of the article correlates with the quality of the journal. Methods: English-language articles on genetic association studies published during 2003-2005 were identified in MEDLINE using the following search strategy: (“ Factor V” OR “ prothrombin” OR “ methylenetetrahydrofolate reductase” OR “ plasminogen activator inhibitor 1” ) AND “ polymorphism” . Articles were evaluated by two independent reviewers using the checklist of 16 items. Results: 57 eligible studies were identified. Average total score was 7.59 ± ; ; ; ; 1.96. There was not a single article with a maximum total score. Total article score did not correlate with the journal impact factor (r=0.3971 ; 95% Ci 0.1547-0.5944 ; P=0.002). Total score did not differ across years (P=0.624). Most common mistakes made by authors were: the lack of power calculation, gene dose effect and data on the prevalence of other known risk factors. Only 3 studies provided power calculation. In 33/57 studies gene-dose effect was not presented, while other well known established risk factors were not reported in 32/57 studies. Hardy-Weinberg equilibrium was calculated only in 30/57 studies. Conclusions: 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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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