Sample Size Calculation in Genetic Association Studies: A Practical Approach.
SNP
complex diseases
diabetic nephropathy
genetic association study
genetic software
sample size
Journal
Life (Basel, Switzerland)
ISSN: 2075-1729
Titre abrégé: Life (Basel)
Pays: Switzerland
ID NLM: 101580444
Informations de publication
Date de publication:
14 Jan 2023
14 Jan 2023
Historique:
received:
03
11
2022
revised:
21
12
2022
accepted:
11
01
2023
entrez:
21
1
2023
pubmed:
22
1
2023
medline:
22
1
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36676184
pii: life13010235
doi: 10.3390/life13010235
pmc: PMC9863799
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Références
Pflugers Arch. 1998 Mar;435(4):443-53
pubmed: 9446690
Int J Epidemiol. 2007 Apr;36(2):439-45
pubmed: 17182636
Genet Med. 2002 Mar-Apr;4(2):45-61
pubmed: 11882781
PLoS One. 2009 Jun 02;4(6):e5639
pubmed: 19503614
Trends Mol Med. 2003 Apr;9(4):135-8
pubmed: 12727138
Biochem Med (Zagreb). 2021 Feb 15;31(1):010502
pubmed: 33380887
J Hum Genet. 2007;52(11):871-880
pubmed: 17928948
Ann N Y Acad Sci. 1990;611:166-74
pubmed: 2174218
Stat Med. 2002 Jan 15;21(1):35-50
pubmed: 11782049
J Neural Transm (Vienna). 2003 Nov;110(11):1199-204
pubmed: 14628185
Lancet. 2005 Oct 8;366(9493):1315-23
pubmed: 16214603
Emerg Med J. 2003 Sep;20(5):453-8
pubmed: 12954688
J Clin Endocrinol Metab. 2001 Nov;86(11):5348-52
pubmed: 11701704
Hum Mol Genet. 2021 Oct 1;30(R2):R161-R163
pubmed: 34264324
Am J Hum Genet. 2017 Jul 6;101(1):5-22
pubmed: 28686856
Cold Spring Harb Protoc. 2012 Mar 01;2012(3):297-306
pubmed: 22383645
Clin J Am Soc Nephrol. 2017 Dec 7;12(12):2032-2045
pubmed: 28522654
BMC Res Notes. 2017 Nov 7;10(1):569
pubmed: 29115983
Regul Pept. 1993 Dec 10;49(2):93-107
pubmed: 8134618
Hum Hered. 2019;84(6):256-271
pubmed: 32721961
Nephron Clin Pract. 2011;118(4):c319-23
pubmed: 21293154
Am J Hum Genet. 2001 Jul;69(1):1-14
pubmed: 11410837
Diagnosis (Berl). 2019 Aug 27;6(3):287-295
pubmed: 30901313
BMC Genet. 2008 May 13;9:36
pubmed: 18477402
Int J Epidemiol. 2003 Feb;32(1):51-7
pubmed: 12690008
Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18026-31
pubmed: 22003128
Hum Hered. 2002;54(1):22-33
pubmed: 12446984
Bioinformatics. 2015 Aug 15;31(16):2691-6
pubmed: 25908791
Trends Mol Med. 2001 Nov;7(11):507-12
pubmed: 11689336
Curr Opin Urol. 2003 Mar;13(2):81-9
pubmed: 12584466
Nat Rev Genet. 2014 May;15(5):335-46
pubmed: 24739678
Clin J Am Soc Nephrol. 2010 Sep;5(9):1542-3
pubmed: 20724521
Bioinformatics. 2003 Jan;19(1):149-50
pubmed: 12499305
Eur J Endocrinol. 2007 Nov;157(5):641-5
pubmed: 17984244
Circulation. 2008 Jul 1;118(1):96-101
pubmed: 18591452
Behav Genet. 2011 Sep;41(5):768-75
pubmed: 21305351
J Clin Invest. 2005 Jun;115(6):1408-18
pubmed: 15931375
Int J Epidemiol. 2009 Feb;38(1):263-73
pubmed: 18676414
PPAR Res. 2014;2014:523584
pubmed: 24587794
Am J Hum Genet. 2000 Jan;66(1):216-34
pubmed: 10631153
Nat Med. 1998 Dec;4(12):1434-7
pubmed: 9846584