Matches in SemOpenAlex for { <https://semopenalex.org/work/W1496757872> ?p ?o ?g. }
- W1496757872 endingPage "270" @default.
- W1496757872 startingPage "263" @default.
- W1496757872 abstract "Segmental duplications (SDs) comprise about 5% of the human genome and are enriched for immune genes. SD loci often show copy numbers variations (CNV), which are difficult to tag with genotyping methods. CNV in the Fcγ receptor region (FCGR) has been suggested to be associated with rheumatic diseases. The objective of this study was to delineate association of FCGR-CNV with rheumatoid arthritis (RA), coeliac disease and Inflammatory bowel disease incidence. We developed a method to accurately quantify CNV in SD loci based on the intensity values from the Immunochip platform and applied it to the FCGR locus. We determined the method's validity using three independent assays: segregation analysis in families, arrayCGH, and whole genome sequencing. Our data showed the presence of two separate CNVs in the FCGR locus. The first region encodes FCGR2A, FCGR3A and part of FCGR2C gene, the second encodes another part of FCGR2C, FCGR3B and FCGR2B. Analysis of CNV status in 4578 individuals with RA and 5457 controls indicated association of duplications in the FCGR3B gene in antibody-negative RA (P=0.002, OR=1.43). Deletion in FCGR3B was associated with increased risk of antibody-positive RA, consistently with previous reports (P=0.023, OR=1.23). A clear genotype-phenotype relationship was observed: CNV polymorphisms of the FCGR3A gene correlated to CD16A expression (encoded by FCGR3A) on CD8 T-cells. In conclusion, our method allows determining the CNV status of the FCGR locus, we identified association of CNV in FCGR3B to RA and showed a functional relationship between CNV in the FCGR3A gene and CD16A expression." @default.
- W1496757872 created "2016-06-24" @default.
- W1496757872 creator A5014147030 @default.
- W1496757872 creator A5014531314 @default.
- W1496757872 creator A5014724586 @default.
- W1496757872 creator A5018044433 @default.
- W1496757872 creator A5018349886 @default.
- W1496757872 creator A5019152602 @default.
- W1496757872 creator A5022004694 @default.
- W1496757872 creator A5023703477 @default.
- W1496757872 creator A5030768494 @default.
- W1496757872 creator A5034377575 @default.
- W1496757872 creator A5035504682 @default.
- W1496757872 creator A5038669147 @default.
- W1496757872 creator A5040140860 @default.
- W1496757872 creator A5049437946 @default.
- W1496757872 creator A5049960008 @default.
- W1496757872 creator A5052368642 @default.
- W1496757872 creator A5052842332 @default.
- W1496757872 creator A5062556190 @default.
- W1496757872 creator A5063295490 @default.
- W1496757872 creator A5069192514 @default.
- W1496757872 creator A5081942030 @default.
- W1496757872 creator A5082248535 @default.
- W1496757872 creator A5084836838 @default.
- W1496757872 creator A5088404253 @default.
- W1496757872 creator A5089277467 @default.
- W1496757872 creator A5091121983 @default.
- W1496757872 date "2015-05-13" @default.
- W1496757872 modified "2023-10-14" @default.
- W1496757872 title "Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes" @default.
- W1496757872 cites W147011734 @default.
- W1496757872 cites W1523240418 @default.
- W1496757872 cites W1769055598 @default.
- W1496757872 cites W1901508376 @default.
- W1496757872 cites W1968002146 @default.
- W1496757872 cites W1971349333 @default.
- W1496757872 cites W1975705143 @default.
- W1496757872 cites W1978308076 @default.
- W1496757872 cites W1980725116 @default.
- W1496757872 cites W1985558863 @default.
- W1496757872 cites W2000341683 @default.
- W1496757872 cites W2010160850 @default.
- W1496757872 cites W2013643561 @default.
- W1496757872 cites W2044110911 @default.
- W1496757872 cites W2044823121 @default.
- W1496757872 cites W2048716105 @default.
- W1496757872 cites W2064640882 @default.
- W1496757872 cites W2083080579 @default.
- W1496757872 cites W2087261765 @default.
- W1496757872 cites W2101275258 @default.
- W1496757872 cites W2105692976 @default.
- W1496757872 cites W2112505790 @default.
- W1496757872 cites W2114857255 @default.
- W1496757872 cites W2115441215 @default.
- W1496757872 cites W2122008473 @default.
- W1496757872 cites W2130542470 @default.
- W1496757872 cites W2130979463 @default.
- W1496757872 cites W2132576596 @default.
- W1496757872 cites W2136035537 @default.
- W1496757872 cites W2138138356 @default.
- W1496757872 cites W2138553510 @default.
- W1496757872 cites W2140968934 @default.
- W1496757872 cites W2142452151 @default.
- W1496757872 cites W2143625465 @default.
- W1496757872 cites W2145047609 @default.
- W1496757872 cites W2146443366 @default.
- W1496757872 cites W2148729865 @default.
- W1496757872 cites W2149681218 @default.
- W1496757872 cites W2151751911 @default.
- W1496757872 cites W2156497289 @default.
- W1496757872 cites W2162530578 @default.
- W1496757872 cites W2169948324 @default.
- W1496757872 doi "https://doi.org/10.1038/ejhg.2015.95" @default.
- W1496757872 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4717214" @default.
- W1496757872 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25966632" @default.
- W1496757872 hasPublicationYear "2015" @default.
- W1496757872 type Work @default.
- W1496757872 sameAs 1496757872 @default.
- W1496757872 citedByCount "24" @default.
- W1496757872 countsByYear W14967578722015 @default.
- W1496757872 countsByYear W14967578722016 @default.
- W1496757872 countsByYear W14967578722017 @default.
- W1496757872 countsByYear W14967578722018 @default.
- W1496757872 countsByYear W14967578722019 @default.
- W1496757872 countsByYear W14967578722020 @default.
- W1496757872 countsByYear W14967578722021 @default.
- W1496757872 countsByYear W14967578722022 @default.
- W1496757872 countsByYear W14967578722023 @default.
- W1496757872 crossrefType "journal-article" @default.
- W1496757872 hasAuthorship W1496757872A5014147030 @default.
- W1496757872 hasAuthorship W1496757872A5014531314 @default.
- W1496757872 hasAuthorship W1496757872A5014724586 @default.
- W1496757872 hasAuthorship W1496757872A5018044433 @default.
- W1496757872 hasAuthorship W1496757872A5018349886 @default.
- W1496757872 hasAuthorship W1496757872A5019152602 @default.
- W1496757872 hasAuthorship W1496757872A5022004694 @default.
- W1496757872 hasAuthorship W1496757872A5023703477 @default.