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A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney

ORCID
0000-0001-7318-5518
Affiliation
Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
Groen in ’t Woud, Sander;
Affiliation
Centre for Human Genetics, University of Marburg, 35037 Marburg, Germany
Maj, Carlo;
ORCID
0000-0003-3922-9382
Affiliation
Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CS Utrecht, The Netherlands
Renkema, Kirsten Y.;
ORCID
0000-0003-4960-4078
Affiliation
Department of Pediatric Nephrology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, 1105AZ Amsterdam, The Netherlands
Westland, Rik;
Affiliation
Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
Galesloot, Tessel;
ORCID
0000-0002-9519-966X
Affiliation
Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
van Rooij, Iris A. L. M.;
ORCID
0000-0003-4913-8601
Affiliation
Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
Vermeulen, Sita H.;
Affiliation
Division of Pediatric Urology, Department of Urology, Radboud Institute for Molecular Life Sciences, Radboudumc Amalia Children’s Hospital, 6500 HB Nijmegen, The Netherlands
Feitz, Wout F. J.;
Affiliation
Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
Roeleveld, Nel;
ORCID
0000-0001-9725-4856
Affiliation
Radboud Institute for Molecular Life Sciences, Department of Paediatric Nephrology, Radboudumc Amalia Children’s Hospital, 6500 HB Nijmegen, The Netherlands
Schreuder, Michiel F.;
Affiliation
Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
van der Zanden, Loes F. M.

Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common genetic variation may contribute to susceptibility to CSFK. We performed a genome-wide association study among 452 patients with CSFK and two control groups of 669 healthy children and 5363 unaffected adults. Variants in two loci reached the genome-wide significance threshold of 5 × 10 −8 , and variants in 30 loci reached the suggestive significance threshold of 1 × 10 −5 . Of these, an identified locus with lead single nucleotide variant (SNV) rs140804918 (odds ratio 3.1, p -value = 1.4 × 10 −8 ) on chromosome 7 was most promising due to its close proximity to HGF , a gene known to be involved in kidney development. Based on their known molecular functions, both KCTD20 and STK38 could explain the suggestive significant association with lead SNV rs148413365 on chromosome 6. Our findings need replication in an independent cohort of CSFK patients before they can be established definitively. However, our analysis suggests that common variants play a role in CSFK aetiology. Future research could enhance our understanding of the molecular mechanisms involved.

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