A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney Article Swipe
Sander Groen in ’t Woud
,
Carlo Maj
,
Kirsten Y. Renkema
,
Rik Westland
,
Tessel E. Galesloot
,
Iris A.L.M. van Rooij
,
Sita H. Vermeulen
,
Wout Feitz
,
Nel Roeleveld
,
Michiel F. Schreuder
,
Loes F.M. van der Zanden
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/biomedicines10123023
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/biomedicines10123023
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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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/biomedicines10123023
- https://www.mdpi.com/2227-9059/10/12/3023/pdf?version=1669349561
- OA Status
- gold
- Cited By
- 3
- References
- 58
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4310189480
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4310189480Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/biomedicines10123023Digital Object Identifier
- Title
-
A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning KidneyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-11-23Full publication date if available
- Authors
-
Sander Groen in ’t Woud, Carlo Maj, Kirsten Y. Renkema, Rik Westland, Tessel E. Galesloot, Iris A.L.M. van Rooij, Sita H. Vermeulen, Wout Feitz, Nel Roeleveld, Michiel F. Schreuder, Loes F.M. van der ZandenList of authors in order
- Landing page
-
https://doi.org/10.3390/biomedicines10123023Publisher landing page
- PDF URL
-
https://www.mdpi.com/2227-9059/10/12/3023/pdf?version=1669349561Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2227-9059/10/12/3023/pdf?version=1669349561Direct OA link when available
- Concepts
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Etiology, Biology, Genome-wide association study, Genome, Medicine, Genetics, Internal medicine, Gene, Single-nucleotide polymorphism, GenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 2, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
58Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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