Matches in SemOpenAlex for { <https://semopenalex.org/work/W2806147188> ?p ?o ?g. }
- W2806147188 endingPage "917" @default.
- W2806147188 startingPage "909" @default.
- W2806147188 abstract "Background: Multiple sclerosis (MS) is a complex disease resulting from the joint effect of many genes. It has been speculated that rare variants might explain part of the missing heritability of MS. Objective: To identify rare coding genetic variants by analyzing a large MS pedigree with 11 affected individuals in several generations. Methods: Genome-wide linkage screen and whole exome sequencing (WES) were performed to identify novel coding variants in the shared region(s) and in the known 110 MS risk loci. The candidate variants were then assessed in 591 MS patients and 3169 controls. Results: Suggestive evidence for linkage was obtained to 7q11.22-q11.23. In WES data, a rare missense variant p.R183C in FKBP6 was identified that segregated with the disease in this family. The minor allele frequency was higher in an independent cohort of MS patients than in healthy controls (1.27% vs 0.95%), but not significant (odds ratio (OR) = 1.33 (95% confidence interval (CI): 0.8–2.4), p = 0.31). Conclusion: The rare missense variant in FKBP6 was identified in a large Dutch MS family segregating with the disease. This association to MS was not found in an independent MS cohort. Overall, genome-wide studies in larger cohorts are needed to adequately investigate the role of rare variants in MS risk." @default.
- W2806147188 created "2018-06-13" @default.
- W2806147188 creator A5004324001 @default.
- W2806147188 creator A5017009749 @default.
- W2806147188 creator A5031530236 @default.
- W2806147188 creator A5035806011 @default.
- W2806147188 creator A5065067169 @default.
- W2806147188 creator A5081607909 @default.
- W2806147188 date "2018-06-06" @default.
- W2806147188 modified "2023-10-13" @default.
- W2806147188 title "Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family" @default.
- W2806147188 cites W1537028966 @default.
- W2806147188 cites W1562566320 @default.
- W2806147188 cites W1968571773 @default.
- W2806147188 cites W1977180652 @default.
- W2806147188 cites W1979373680 @default.
- W2806147188 cites W1984349552 @default.
- W2806147188 cites W1990771063 @default.
- W2806147188 cites W2000149942 @default.
- W2806147188 cites W2004737328 @default.
- W2806147188 cites W2016764773 @default.
- W2806147188 cites W2018668951 @default.
- W2806147188 cites W2030842017 @default.
- W2806147188 cites W2040547343 @default.
- W2806147188 cites W2053725906 @default.
- W2806147188 cites W2069871720 @default.
- W2806147188 cites W2073540637 @default.
- W2806147188 cites W2089593597 @default.
- W2806147188 cites W2093636770 @default.
- W2806147188 cites W2094205468 @default.
- W2806147188 cites W2103429055 @default.
- W2806147188 cites W2105490558 @default.
- W2806147188 cites W2109252993 @default.
- W2806147188 cites W2113613985 @default.
- W2806147188 cites W2114408926 @default.
- W2806147188 cites W2118094114 @default.
- W2806147188 cites W2130355701 @default.
- W2806147188 cites W2135403800 @default.
- W2806147188 cites W2137638547 @default.
- W2806147188 cites W2143992683 @default.
- W2806147188 cites W2145138039 @default.
- W2806147188 cites W2164021954 @default.
- W2806147188 cites W2164392039 @default.
- W2806147188 cites W2310362163 @default.
- W2806147188 cites W2346023486 @default.
- W2806147188 cites W2394486176 @default.
- W2806147188 cites W2398139111 @default.
- W2806147188 cites W2415607391 @default.
- W2806147188 cites W2421336832 @default.
- W2806147188 cites W2535103739 @default.
- W2806147188 cites W2950113152 @default.
- W2806147188 cites W4211227044 @default.
- W2806147188 cites W4252486827 @default.
- W2806147188 doi "https://doi.org/10.1177/1352458518777202" @default.
- W2806147188 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6545620" @default.
- W2806147188 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29873607" @default.
- W2806147188 hasPublicationYear "2018" @default.
- W2806147188 type Work @default.
- W2806147188 sameAs 2806147188 @default.
- W2806147188 citedByCount "15" @default.
- W2806147188 countsByYear W28061471882018 @default.
- W2806147188 countsByYear W28061471882019 @default.
- W2806147188 countsByYear W28061471882020 @default.
- W2806147188 countsByYear W28061471882021 @default.
- W2806147188 countsByYear W28061471882022 @default.
- W2806147188 crossrefType "journal-article" @default.
- W2806147188 hasAuthorship W2806147188A5004324001 @default.
- W2806147188 hasAuthorship W2806147188A5017009749 @default.
- W2806147188 hasAuthorship W2806147188A5031530236 @default.
- W2806147188 hasAuthorship W2806147188A5035806011 @default.
- W2806147188 hasAuthorship W2806147188A5065067169 @default.
- W2806147188 hasAuthorship W2806147188A5081607909 @default.
- W2806147188 hasBestOaLocation W28061471881 @default.
- W2806147188 hasConcept C104317684 @default.
- W2806147188 hasConcept C10590036 @default.
- W2806147188 hasConcept C106208931 @default.
- W2806147188 hasConcept C126322002 @default.
- W2806147188 hasConcept C135763542 @default.
- W2806147188 hasConcept C142870003 @default.
- W2806147188 hasConcept C144621757 @default.
- W2806147188 hasConcept C153209595 @default.
- W2806147188 hasConcept C156957248 @default.
- W2806147188 hasConcept C157410074 @default.
- W2806147188 hasConcept C16671776 @default.
- W2806147188 hasConcept C180754005 @default.
- W2806147188 hasConcept C186413461 @default.
- W2806147188 hasConcept C203014093 @default.
- W2806147188 hasConcept C2780640218 @default.
- W2806147188 hasConcept C37463918 @default.
- W2806147188 hasConcept C501734568 @default.
- W2806147188 hasConcept C54355233 @default.
- W2806147188 hasConcept C69991583 @default.
- W2806147188 hasConcept C71924100 @default.
- W2806147188 hasConcept C72563966 @default.
- W2806147188 hasConcept C75563809 @default.
- W2806147188 hasConcept C86803240 @default.
- W2806147188 hasConcept C97425143 @default.
- W2806147188 hasConceptScore W2806147188C104317684 @default.