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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
- Fadista, João (author)
- Lund, Marie (author)
- Skotte, Line (author)
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- Geller, Frank (author)
- Nandakumar, Priyanka (author)
- Chatterjee, Sumantra (author)
- Salo, Perttu (author)
- Virtanen, Valtter (author)
- Carstensen, Lisbeth (author)
- Bybjerg-Grauholm, Jonas (author)
- Hougaard, David Michael (author)
- Pakarinen, Mikko (author)
- Perola, Markus (author)
- Chakravarti, Aravinda (author)
- Melbye, Mads (author)
- Feenstra, Bjarke (author)
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- (creator_code:org_t)
- 2018-01-29
- 2018
- English.
- In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 26:4, s. 561-569
- Journal article (peer-reviewed)
Abstract
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- ; 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Molekylär genetik
- Molecular Genetics
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- ref (subject category)
- art (subject category)
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- Feenstra, Bjarke
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