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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2004227250> ?p ?o ?g. }

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• W2004227250 abstract "Genome-wide association (GWA) studies have discovered multiple common genetic risk variants related to common diseases. It has been proposed that a number of these signals of common polymorphisms are based on synthetic associations that are generated by rare causative variants. We investigated if mutations in the low-density lipoprotein receptor (LDLR) gene causing familial hypercholesterolemia (FH, OMIM #143890) produce such signals. We genotyped 480 254 polymorphisms in 464 FH patients and in 5945 subjects from the general population. A total of 28 polymorphisms located up to 2.4 Mb from the LDLR gene were genome-wide significantly associated with FH (P<10−8). We replicated the 10 top signals in 2189 patients with a clinical diagnosis of FH and in 2157 subjects of a second sample of the general population (P<0.000087). Our findings confirm that rare variants are able to cause synthetic genome-wide significant associations, and that they exert this effect at relatively large distances from the causal mutation." @default.
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• W2004227250 date "2012-09-12" @default.
• W2004227250 modified "2023-10-08" @default.
• W2004227250 title "Low-density lipoprotein receptor mutations generate synthetic genome-wide associations" @default.
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• W2004227250 doi "https://doi.org/10.1038/ejhg.2012.207" @default.
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