Acute rejection in kidney transplantation and the evaluation of associated polymorphisms (SNPs): the importance of sample size

  • 1 Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
  • 2 Specialist Biologist in Genetics, Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), ULSS 8 BERICA, San Bortolo Hospital, San Bortolo, Vicenza, Italy
  • 3 Udine University Hospital, DAME, Udine, Italy
  • 4 Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiology, Thoracic and Vascular Sciences, University of Padova, Padova, Italy
  • 5 Laboratory of Clinical Analysis, San Bortolo Hospital, Vicenza, Italy
Andrea Neri
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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, Elisa Scalzotto
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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, Valentina CorradiORCID iD: https://orcid.org/0000-0002-9753-0600
  • Corresponding author
  • Specialist Biologist in Genetics, Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), ULSS 8 BERICA, San Bortolo Hospital, San Bortolo, Vicenza, Italy
  • orcid.org/0000-0002-9753-0600
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, Carlotta Caprara
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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, Alberto Salin
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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, Manuela Cannone
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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, Massimo De Cal
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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, Giulio Romano, Patrizia Tulissi, Anna Rosa Cussigh, Domenico Montanaro, Annachiara Frigo
  • Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiology, Thoracic and Vascular Sciences, University of Padova, Padova, Italy
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, Davide Giavarina, Stefano Chiaramonte
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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and Claudio Ronco
  • Department of Nephrology, Dialysis and Transplantation, International Renal Research Institute of Vicenza (IRRIV), San Bortolo Hospital, Vicenza, Italy
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Abstract

Background

Acute rejection (AR) is one of the most frequent complications after kidney transplantation (KT). Scientific evidence reports that some single-nucleotide polymorphisms (SNPs) located in genes involved in the immune response and in the pharmacokinetics and pharmacodynamics of immunosuppressive drugs are associated with rejection in renal transplant patients. The aim of this study was to evaluate some SNPs located in six genes: interleukin-10 (IL-10), tumor necrosis factor (TNF), adenosine triphosphate-binding cassette sub-family B member 1 (ABCB1), uridine diphosphate glucuronosyltransferase family 1 member A9 (UGT1A9), inosine monophosphate dehydrogenase 1 (IMPDH1) and IMPDH2.

Methods

We enrolled cases with at least one AR after KT and two groups of controls: patients without any AR after KT and healthy blood donors. Genetic analysis on DNA was performed. The heterozygosity (HET) was determined and the Hardy-Weinberg equilibrium (HWE) test was performed for each SNP. The sample size was calculated using the QUANTO program and the genetic associations were calculated using the SAS program (SAS Institute Inc., Cary, NC, USA).

Results

In our previous preliminary study (sample size was not reached for cases), the results showed that patients with the C allele in the SNP rs1045642 and the A allele in the SNP rs2032582 of the ABCB1 gene had more frequent AR. In contrast, with the achievement of sample size, the trend of the previous data was not confirmed.

Conclusions

Our study highlights a fundamental aspect of scientific research that is generally presumed, i.e. the sample size of groups enrolled for a scientific study. We believe that our study will make a significant contribution to the scientific community in the discussion of the importance of the analysis and the achievement of sample size to evaluate the associations between SNPs and the studied event.

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