Evidence map›Paper›PMID 36676184›Full record

ReviewLife (Basel, Switzerland)2023

Sample Size Calculation in Genetic Association Studies: A Practical Approach.

Cristina Politi, Stefanos Roumeliotis, Giovanni Tripepi, Belinda Spoto

Abstract readReview
In one paragraph

Review in Life (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Food Intake According to Clock Gene Polymorphisms: A Systematic Review.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. The FunctionalInternational journal of molecular sciences · 2026
    Article
  9. Article
  10. Evaluation ofCancer management and research · 2026
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Cristina PolitiClinical Epidemiology and Renal Diseases and Hypertension Unit, Institute of Clinical Physiology (IFC), National Research Council (CNR), 89124 Reggio Calabria, Italy.
Stefanos RoumeliotisDivision of Nephrology and Hypertension, 1st Department of Internal Medicine, AHEPA Hospital, School of Medicine, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Giovanni TripepiClinical Epidemiology and Renal Diseases and Hypertension Unit, Institute of Clinical Physiology (IFC), National Research Council (CNR), 89124 Reggio Calabria, Italy.
Belinda SpotoClinical Epidemiology and Renal Diseases and Hypertension Unit, Institute of Clinical Physiology (IFC), National Research Council (CNR), 89124 Reggio Calabria, Italy.ORCID 0000-0001-9679-3890

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic association studies, testing the relationship between genetic variants and disease status, are useful tools for identifying genes that grant susceptibility to complex disorders. In such studies, an inadequate sample size may provide unreliable results: a small sample is unable to accurately describe the population, whereas a large sample makes the study expensive and complex to run. However, in genetic association studies, the sample size calculation is often overlooked or inadequately assessed for the small number of parameters included. In light of this, herein we list and discuss the role of the statistical and genetic parameters to be considered in the sample size calculation, show examples reporting incorrect estimation and, by using a genetic software program, we provide a practical approach for the assessment of the adequate sample size in a hypothetical study aimed at analyzing a gene-disease association.

Indexed as

complex diseasesdiabetic nephropathygenetic association studygenetic softwaresample sizeSNP

Identifiers

PMID36676184
PMCPMC9863799

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.