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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
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2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 4, p. 561-569Article in journal (Refereed) Published
Abstract [en]

; 322 cases and 4893 controls). The conditional signal was, however, not replicated in two HSCR cohorts from USA and Finland, leading to the hypothesis that rs144432435 tags a rare haplotype present in Denmark and Sweden. Using the genome-wide complex trait analysis method, we estimated the SNP heritability of HSCR to be 88%, close to estimates based on classical family studies. Moreover, by using Lasso (least absolute shrinkage and selection operator) regression we were able to construct a genetic HSCR predictor with a area under the receiver operator characteristics curve of 76% in an independent validation set. In conclusion, we combined the largest collection of sporadic Hirschsprung cases to date (586 cases) to further elucidate HSCR's genetic architecture.

Place, publisher, year, edition, pages
2018. Vol. 26, no 4, p. 561-569
National Category
Medical Genetics
Research subject
Molecular Genetics
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URN: urn:nbn:se:uu:diva-373446DOI: 10.1038/s41431-017-0053-7PubMedID: 29379196OAI: oai:DiVA.org:uu-373446DiVA, id: diva2:1301222
Available from: 2019-04-01 Created: 2019-04-01 Last updated: 2019-11-12

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