rs11229723 - GLYATL1-AS1, GLYATL1

Magnitude 4.5 · 1 study on file

Reported associations

• A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney - Unknown journal (n.d.) · Unknown authors · PubMed 36551779

  ABSTRACT: 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

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