Table 1.

Summary of genome-wide and exome-wide association studies of kidney function traits and CKD

First AuthorPMIDYearStudy DesignNReplicationFunctional StudyTrait
Sinnott-Armstrong NCurrently in BioRxiv (11)2019GWAS358,072NoNoeGFR, urea, cysC, creatinine, MA
Wuttke M31152163 (6)2019GWAS meta-analysis765,348280,722NoeGFR, CKD, BUN
Teumer A31511532 (12)2019GWAS meta-analysis564,257NoDrosophilaUACR
Tin A31578528 (16)2019GWAS meta-analysis457,690NoHuman kidney embryonic cell lineUrate, gout
Hellwege J31451708 (17)2019GWAS289,722765,289NoeGFR
Zanetti D30910378 (18)2019GWAS218,759109,530NoUACR
Lin BM31178898 (13)2019GWAS41,041452,264NoCKD, ESKD
Graham SE31015462 (19)2019GWAS meta-analysis350,504399,548NoeGFR
Morris AP30604766 (20)2019GWAS meta-analysis312,468NoNoeGFR
Haas M30220432 (21)2018GWAS, Mendelian randomization382,500NoNoUACR
Kanai M29403010 (22)2018GWAS162,255NoNoeGFR, BUN, urate
Gorski M28452372 (23)2017GWAS meta-analysis110,517NoNoeGFR
Li M27920155 (24)2017Exome chip meta-analysis111,666NoZebrafish (Danio rerio)eGFR
Mahajan A27588450 (14)2016GWAS meta-analysis71,638NoDrosophila and mouse modeleGFR, CKD
Pattaro C26831199 (15)2016GWAS meta-analysis133,41342,166NoeGFR, CKD
Teumer A26631737 (25)2016GWAS meta-analysis51,8861962RatUACR
  • Search strategy: A PubMed search using broad criteria (search terms: “genome-wide association study” and “kidney” in any fields and filtered by human study and published since 2008, search date: February 10, 2020) was performed, yielding 685 publications. Within these, entries were manually screened for publications reporting GWAS in the general population as the study design and kidney function traits as the outcome. The following publications were not found in the PubMed search and are included because they fit the criteria as population-based GWAS of kidney-related traits: Lin et al. 2019, Sinnott-Armstrong et al. 2019, Zanetti et al. 2019, Haas et al. 2018, Kanai et al. 2018. This screen resulted in a total of 30 manuscripts (Supplemental Table 1). This table shows the 16 manuscripts that were published since 2016 and were covered by this review. GWAS, genomic-wide association study; cysC, cystatin C; MA, microalbuminuria; UACR, urinary albumin-to-creatinine ratio.