Genetic association studies are a means to investigate the causal role of genes in diseases in order to unravel pathways involved in the etiology of disease. There are two types of genetic association studies: hypothesis-driven studies, i.e. candidate gene studies, targeting genes with a known or presumed role in pathways or diseases of interest, and non-hypothesis-driven studies, i.e. genome-wide association studies, aiming for the discovery of new genetic associations. This educational article is an introduction to genetic association studies for nephrologists and researchers in the domain of kidney disease.

1.
McKnight AJ, Currie D, Maxwell AP: Unravelling the genetic basis of renal disease; from single gene to multifactorial disorders. J Pathol 2010;220:198–216.
2.
Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt G: How to use an article about genetic association. A. Background concepts. JAMA 2009;301:74–81.
3.
dbSNP, available at www.ncbi.nlm.nih.gov/snp
4.
Chu AY, Parekh RS, Astor BC, Coresh J, Berthier-Schaad Y, Smith MW, Shuldiner AR, Kao WHL: Association of APOE polymorphism with chronic kidney disease in a nationally representative sample: a Third National Health and Nutrition Examination Survey (NHANES III) Genetic Study. BMC Med Genet 2009;10:108.
5.
Chambers JC, Zhang W, Lord GM, et al: Genetic loci influencing kidney function and chronic kidney disease. Nat Genet 2010;42:373–375.
6.
O’Seaghdha CM, Fox CS: Genetics of chronic kidney disease. Nephron Clin Pract 2011;188:c55–c63.
7.
Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, Riley J, Purvis I, Xu CF: Detection of genotyping errors by Hardy-Weinberg equilibrium testing. Eur J Hum Genet 2004;12:395–399.
8.
Verduijn M, Prein RA, Stenvinkel P, Carrero JJ, le Cessie S, Witasp A, Nordfors L, Krediet RT, Boeschoten EW, Dekker FW: Is fetuin-A a mortality risk factor in dialysis patients or a mere risk marker? A Mendelian randomization approach. Nephrol Dial Transplant 2011;26:239–245.
9.
Verduijn M, Siegerink B, Jager KJ, Zoccali C, Dekker FW: Mendelian randomization: use of genetics to enable causal inference in observational studies. Nephrol Dial Transplant 2010;25:1394–1398.
10.
Pinto-Sietsma SJ, Herrmann SM, Schmidt-Petersen K, Niu T, Hillege HL, Janssen WM, de Zeeuw D, de Jong P, Kreutz R: Role of the endothelin-1 gene locus for renal impairment in the general nondiabetic population. J Am Soc Nephrol 2003;14:2596–2602.
11.
Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt G: How to use an article about genetic association. B. Are the results of the study valid? JAMA 2009;301:191–197.
12.
Brenchley PE, Lindholm B, Dekker FW, Navis G: Translating knowledge of the human genome into clinical practice in nephrology dialysis and transplantation: the Renal Genome Network (ReGeNet). Nephrol Dial Transplant 2006;21:2681–2683.
13.
Burton PR, Tobin MD, Hopper JL: Key concepts in genetic epidemiology. Lancet 2005;366:941–951.
14.
Cordell HJ, Clayton DG: Genetic association studies. Lancet 2005;366:1121–1131.
15.
Attia J, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, Minelli C, Thompson J, Infante-Rivard C, Guyatt G: How to use an article about genetic association. C. What are the results and will they help me in caring for my patients? JAMA 2009;301:304–308.
16.
Little J, Higgins JPT, Ioannidis JPA, et al: STrengthening the REporting of Genetic Association studies (STREGA): an extension of the STROBE statement. Ann Intern Med 2009;150:206–215.
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