Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD
2011

Genetic Factors in Chronic Kidney Disease and End Stage Renal Disease

Sample size: 26308 publication 10 minutes Evidence: moderate

Author Information

Author(s): Böger Carsten A., Gorski Mathias, Li Man, Hoffmann Michael M., Huang Chunmei, Yang Qiong, Teumer Alexander, Krane Vera, O'Seaghdha Conall M., Kutalik Zoltán, Wichmann H.-Erich, Haak Thomas, Boes Eva, Coassin Stefan, Coresh Josef, Kollerits Barbara, Haun Margot, Paulweber Bernhard, Köttgen Anna, Li Guo, Shlipak Michael G., Powe Neil, Hwang Shih-Jen, Dehghan Abbas, Rivadeneira Fernando, Uitterlinden André, Hofman Albert, Beckmann Jacques S., Krämer Bernhard K., Witteman Jacqueline, Bochud Murielle, Siscovick David, Rettig Rainer, Kronenberg Florian, Wanner Christoph, Thadhani Ravi I., Heid Iris M., Fox Caroline S., Kao W. H., The CKDGen Consortium

Primary Institution: University Hospital Regensburg

Hypothesis

Are genetic loci associated with estimated glomerular filtration rate (eGFR) also linked to the risk of developing chronic kidney disease (CKD) and end stage renal disease (ESRD)?

Conclusion

Most genetic loci associated with eGFR are linked to the risk of developing CKD, but only a few show modest associations with ESRD.

Supporting Evidence

  • 11 of the 16 genetic loci analyzed were associated with incident CKD.
  • Two SNPs showed nominally significant associations with ESRD.
  • The majority of SNPs had consistent direction of association with previous findings for eGFR and prevalent CKD.
  • Only two serum creatinine measurements were used to define incident CKD, which may have led to misclassification.
  • The study included a large sample size of over 26,000 individuals.

Takeaway

Scientists studied over 26,000 people to see if certain genes affect the risk of kidney disease. They found that many genes are linked to early kidney problems, but only a couple are linked to very serious kidney failure.

Methodology

The study analyzed genetic data from 26,308 individuals free of CKD at baseline, following them for a median of 7.2 years to identify incident CKD cases.

Potential Biases

The cohorts used for the incident CKD analysis were not entirely independent from previous studies, which may introduce bias.

Limitations

The study relied on only two serum creatinine measurements to define incident CKD, which may have introduced misclassification.

Participant Demographics

Participants were of European ancestry, with a mean age ranging from 40.5 to 71.7 years.

Statistical Information

P-Value

p=4.1e-9

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1002292

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