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GSTM1 Copy Number Is Not Associated With Risk of Kidney Failure in a Large Cohort.

Yanfei Zhang1, Waleed Zafar2, Dustin N Hartzel3

  • 1Genomic Medicine Institute, Geisinger, Danville, PA, United States.

Frontiers in Genetics
|September 27, 2019
PubMed
Summary

Glutathione S-transferase µ1 (GSTM1) deletion is common but not associated with chronic kidney disease progression. This large study found no link between GSTM1 copy number and kidney failure risk in diverse populations.

Keywords:
GSTM1copy numberelectronic health recordskidney failurelarge cohort

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Area of Science:

  • Genetics and Genomics
  • Nephrology
  • Pharmacogenomics

Background:

  • Common genetic variations, like glutathione S-transferase µ1 (GSTM1) deletion, are investigated for their role in complex diseases.
  • Previous studies suggest a possible association between GSTM1 deletion and chronic kidney disease (CKD) progression, necessitating further validation.

Purpose of the Study:

  • To investigate the association between glutathione S-transferase µ1 (GSTM1) copy number and the risk of kidney failure.
  • To validate or refute the purported link between GSTM1 deletion and CKD progression in a large, well-characterized cohort.

Main Methods:

  • Utilized whole exome sequencing data from the DiscovEHR cohort to determine GSTM1 copy number.
  • Defined kidney failure based on electronic health records and US Renal Data System linkage (dialysis, transplant, or eGFR < 15 ml/min/1.73 m²).
  • Employed Cox regression analysis, adjusting for multiple covariates, to assess the association in a large cohort of 46,983 participants.

Main Results:

  • Prevalence of GSTM1 deletion varied by race, with 52.1% of whites and 28.8% of blacks having zero copies.
  • Over a mean follow-up of 9.2 years, 645 kidney failure events occurred in white participants and 28 in black participants.
  • No statistically significant association was found between GSTM1 copy number and kidney failure across genotypic, dominant, or recessive models, even in sensitivity analyses.

Conclusions:

  • This large cohort study found no evidence to support an association between glutathione S-transferase µ1 (GSTM1) copy number and the risk of kidney failure.
  • The findings do not corroborate previous assertions linking GSTM1 deletion to chronic kidney disease progression.