Document Type : Research Articles
Authors
1
Department of Ophthalmology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
2
Department of Ophthalmology, Farabi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
3
Department of Radiology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
4
Cancer Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
5
Student Research Committee, Ilam University of Medical Sciences, Ilam, Iran.
6
Department of Plastic Surgery, Iranshahr University of Medical Sciences, Iranshahr, Iran.
7
Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
8
Department of Obstetrics and Gynecology, Iranshahr University of Medical Sciences, Iranshahr, Iran.
9
Department of Health Management, Policy, and Economics, Faculty of Management and Medical Information Sciences, Kerman University of Medical Sciences, Kerman, Iran.
10
Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
11
Department of Radiology, Shahid Rahnamoun Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Abstract
Objective: To propose a framework for enhancing the reporting quality of genetic association studies by adapting the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. Methods: A systematic review was performed on case-control and cohort studies published in peer-reviewed journals up to October 7, 2024. Eligible studies reported on single nucleotide polymorphisms (SNPs) and gene expression profiles. Data collection consisted of a thorough examination of methodologies, population stratification, phenotype definitions, and ethical aspects concerning informed consent and data sharing. Results: The adaptation of the PRISMA guidelines created a cohesive reporting framework that improved reproducibility in 67% of 150 studies reviewed, up from 34% before the adaptation. Reported biases significantly decreased, with population stratification issues falling from 42% to 18% (p<0.01). Comprehensive reporting of genetic variants rose from 50% to 85% post-adaptation, aiding biological interpretation of results. A literature review found that only 60% of analyzed meta-analyses adhered to PRISMA standards, revealing notable deficiencies in sample characteristics, methodologies, and statistical reporting, including effect sizes and confidence intervals. Expert consultations indicated a need for clearer guidelines on population stratification, sample selection criteria, and gene-environment interactions. Recommendations for PRISMA adaptation include specific reporting items for genetic nuances, standardized methodologies, and attention to ethical considerations in genetic research. A proposed framework for ongoing evaluation and updates will emphasize interdisciplinary collaboration and transparency to enhance the reproducibility and credibility of genetic research findings. Conclusion: The customized adaptation of PRISMA guidelines greatly improves the methodological quality and ethical standards of genetic association studies, enhancing the integrity and validity of research findings. These adaptations mark a critical advancement in the rigor and transparency of such research. By tackling the complexities of genetic data, researchers can enhance the comparability and reproducibility of their results, thereby furthering personalized medicine and public health.
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