rs114118902 - SCN1A-AS1, SCN9A

Magnitude 4.5 · 1 study on file

Reported associations

• Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes - Unknown journal (n.d.) · Unknown authors · PubMed 37572794

  ABSTRACT: Background & Aims: Biliary atresia (BA) is poorly understood and leads to liver transplantation (LT), with the requirement for and associated risks of lifelong immunosuppression, in most children. We performed a genome-wide association study (GWAS) to determine the genetic basis of BA. Methods: We performed a GWAS in 811 European BA cases treated with LT in US, Canadian and UK centers, and 4,654 genetically matched controls. Whole-genome sequencing of 100 cases evaluated synthetic association with rare variants. Functional studies included whole liver transcriptome analysis of 64 BA cases and perturbations in experimental models. Results: A GWAS of common single nucleotide polymorphisms (SNPs), i.e. allele frequencies >1%, identified intronic SNPs rs6446628 in AFAP1 with genome-w

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