Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool

Zahra N Sohani^{1

2}, David Meyre^{3

4

5}, Russell J de Souza^{6

7}, Philip G Joseph⁸, Mandark Gandhi⁹, Brittany B Dennis^{10

11}, Geoff Norman¹², Sonia S Anand^{13

14

15}

Affiliations

¹ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.
² Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.
³ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
⁴ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
⁵ Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
⁶ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.
⁷ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.
⁸ Department of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. philip.joseph@phri.ca.
⁹ Department of Medicine, Western University, London, ON, Canada. mandark.gandhi@medportal.ca.
¹⁰ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.
¹¹ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.
¹² Programme for Educational Research and Development (PERD), McMaster University, Hamilton, ON, Canada. gnorman@mcmaster.ca.
¹³ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.
¹⁴ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.
¹⁵ Department of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. anands@mcmaster.ca.

PMID: 25975208
PMCID: PMC4431044
DOI: 10.1186/s12863-015-0211-2

Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool

Zahra N Sohani et al. BMC Genet. 2015.

. 2015 May 15:16:50.

doi: 10.1186/s12863-015-0211-2.

Authors

Zahra N Sohani^{1

2}, David Meyre^{3

4

5}, Russell J de Souza^{6

7}, Philip G Joseph⁸, Mandark Gandhi⁹, Brittany B Dennis^{10

11}, Geoff Norman¹², Sonia S Anand^{13

14

15}

Affiliations

¹ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.
² Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. sohaniz@mcmaster.ca.
³ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
⁴ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
⁵ Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada. meyred@mcmaster.ca.
⁶ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.
⁷ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. rdesouz@mcmaster.ca.
⁸ Department of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. philip.joseph@phri.ca.
⁹ Department of Medicine, Western University, London, ON, Canada. mandark.gandhi@medportal.ca.
¹⁰ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.
¹¹ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. dennisbb@mcmaster.ca.
¹² Programme for Educational Research and Development (PERD), McMaster University, Hamilton, ON, Canada. gnorman@mcmaster.ca.
¹³ Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.
¹⁴ Chanchlani Research Centre, McMaster University, Hamilton, ON, Canada. anands@mcmaster.ca.
¹⁵ Department of Medicine, McMaster University, 1280 Main St West, Hamilton, ON, L8S 4L8, Canada. anands@mcmaster.ca.

PMID: 25975208
PMCID: PMC4431044
DOI: 10.1186/s12863-015-0211-2

Abstract

Background: Advances in genomics technology have led to a dramatic increase in the number of published genetic association studies. Systematic reviews and meta-analyses are a common method of synthesizing findings and providing reliable estimates of the effect of a genetic variant on a trait of interest. However, summary estimates are subject to bias due to the varying methodological quality of individual studies. We embarked on an effort to develop and evaluate a tool that assesses the quality of published genetic association studies. Performance characteristics (i.e. validity, reliability, and item discrimination) were evaluated using a sample of thirty studies randomly selected from a previously conducted systematic review.

Results: The tool demonstrates excellent psychometric properties and generates a quality score for each study with corresponding ratings of 'low', 'moderate', or 'high' quality. We applied our tool to a published systematic review to exclude studies of low quality, and found a decrease in heterogeneity and an increase in precision of summary estimates.

Conclusion: This tool can be used in systematic reviews to inform the selection of studies for inclusion, to conduct sensitivity analyses, and to perform meta-regressions.

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Figures

**Fig. 1**
Likert scale used in the Q-Genie tool

**Fig. 2**
Endorsement of items on the Q-Genie tool in users and non-users

**Fig. 3**
Plot of borderline groups regression depicting total scores on the Q-Genie tool corresponding with ‘low’, ‘moderate’, and ‘high’ quality of genetic association study

**Fig. 4**
Forest plot of *CDKAL1* rs7754840 with and without exclusion of low quality studies

See this image and copyright information in PMC

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Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool

Affiliations

Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool

Authors

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Abstract

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References

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