Matches in SemOpenAlex for { <https://semopenalex.org/work/W2050841776> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W2050841776 endingPage "AB69" @default.
- W2050841776 startingPage "AB69" @default.
- W2050841776 abstract "In our PID Clinic, we have cared for more than 300 patients with recurrent infections and depressed immunoglobulins. We have enrolled a majority of them in a protocol to identify regions within the genome that may contribute to the spectrum of their disease. We are interested in patients with CVID as well as a spectrum of patients who do not meet CVID criteria. We included a total of 1,422 cases and controls of European American ancestry; of which, 81 were diagnosed with CVID, 84 with intermediate CVID (ICR), and 75 with RESPI. Relative risk was estimated using odds ratios and corresponding 95% confidence intervals as implemented in PLINK using log-additive models and linkage disequilibrium was assessed using Haploview and LocusZoom. The strongest gene associations with CVID were mapped to several loci on chromosomes 2 and 6. Specifically, on chromosome 2, loci mapped to the genes that encode endonuclease ZRANB3 and the GTPase activating protein RAB3GAP1 were strongly associated with CVID compared to controls (p=6.00X10-12 and 6.59x10-12, respectively). On chromosome 6, rs2523535, localized to HLA-B, was associated with CVID (p=3.13x10-9). When we expanded our analysis to include all phenotypes consistent with the spectrum of disease, similar regions on chromosomes 2 and 6 were also strongly associated. This study exposes new and unexplored regions of interest within chromosomes 2 and 6 in the CVID population. Further study of these areas may show new gene(s) that may contribute to the disease." @default.
- W2050841776 created "2016-06-24" @default.
- W2050841776 creator A5023262027 @default.
- W2050841776 creator A5028489121 @default.
- W2050841776 creator A5040987875 @default.
- W2050841776 creator A5063612088 @default.
- W2050841776 creator A5064902530 @default.
- W2050841776 creator A5067405462 @default.
- W2050841776 creator A5067984100 @default.
- W2050841776 creator A5076092858 @default.
- W2050841776 date "2014-02-01" @default.
- W2050841776 modified "2023-09-26" @default.
- W2050841776 title "Immunochip Study Reveals Regions On Chromosomes 2 and 6 May Contribute To The Spectrum Of CVID" @default.
- W2050841776 doi "https://doi.org/10.1016/j.jaci.2013.12.270" @default.
- W2050841776 hasPublicationYear "2014" @default.
- W2050841776 type Work @default.
- W2050841776 sameAs 2050841776 @default.
- W2050841776 citedByCount "0" @default.
- W2050841776 crossrefType "journal-article" @default.
- W2050841776 hasAuthorship W2050841776A5023262027 @default.
- W2050841776 hasAuthorship W2050841776A5028489121 @default.
- W2050841776 hasAuthorship W2050841776A5040987875 @default.
- W2050841776 hasAuthorship W2050841776A5063612088 @default.
- W2050841776 hasAuthorship W2050841776A5064902530 @default.
- W2050841776 hasAuthorship W2050841776A5067405462 @default.
- W2050841776 hasAuthorship W2050841776A5067984100 @default.
- W2050841776 hasAuthorship W2050841776A5076092858 @default.
- W2050841776 hasConcept C104317684 @default.
- W2050841776 hasConcept C126322002 @default.
- W2050841776 hasConcept C135763542 @default.
- W2050841776 hasConcept C153209595 @default.
- W2050841776 hasConcept C156957248 @default.
- W2050841776 hasConcept C159654299 @default.
- W2050841776 hasConcept C2776433325 @default.
- W2050841776 hasConcept C30481170 @default.
- W2050841776 hasConcept C35605836 @default.
- W2050841776 hasConcept C54355233 @default.
- W2050841776 hasConcept C71924100 @default.
- W2050841776 hasConcept C86803240 @default.
- W2050841776 hasConceptScore W2050841776C104317684 @default.
- W2050841776 hasConceptScore W2050841776C126322002 @default.
- W2050841776 hasConceptScore W2050841776C135763542 @default.
- W2050841776 hasConceptScore W2050841776C153209595 @default.
- W2050841776 hasConceptScore W2050841776C156957248 @default.
- W2050841776 hasConceptScore W2050841776C159654299 @default.
- W2050841776 hasConceptScore W2050841776C2776433325 @default.
- W2050841776 hasConceptScore W2050841776C30481170 @default.
- W2050841776 hasConceptScore W2050841776C35605836 @default.
- W2050841776 hasConceptScore W2050841776C54355233 @default.
- W2050841776 hasConceptScore W2050841776C71924100 @default.
- W2050841776 hasConceptScore W2050841776C86803240 @default.
- W2050841776 hasIssue "2" @default.
- W2050841776 hasLocation W20508417761 @default.
- W2050841776 hasOpenAccess W2050841776 @default.
- W2050841776 hasPrimaryLocation W20508417761 @default.
- W2050841776 hasRelatedWork W1966708416 @default.
- W2050841776 hasRelatedWork W1990524642 @default.
- W2050841776 hasRelatedWork W1992528204 @default.
- W2050841776 hasRelatedWork W2019989714 @default.
- W2050841776 hasRelatedWork W2030117176 @default.
- W2050841776 hasRelatedWork W2069461486 @default.
- W2050841776 hasRelatedWork W2087198772 @default.
- W2050841776 hasRelatedWork W2159152816 @default.
- W2050841776 hasRelatedWork W2369752866 @default.
- W2050841776 hasRelatedWork W2410452464 @default.
- W2050841776 hasVolume "133" @default.
- W2050841776 isParatext "false" @default.
- W2050841776 isRetracted "false" @default.
- W2050841776 magId "2050841776" @default.
- W2050841776 workType "article" @default.