FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2003287273> ?p ?o ?g. }

• W2003287273 endingPage "e31930" @default.
• W2003287273 startingPage "e31930" @default.
• W2003287273 abstract "Polymorphisms in and around the Cholesteryl Ester Transfer Protein (CETP) gene have been associated with HDL levels, risk for coronary artery disease (CAD), and response to therapy. The mechanism of action of these polymorphisms has yet to be defined. We used mRNA allelic expression and splice isoform measurements in human liver tissues to identify the genetic variants affecting CETP levels. Allelic CETP mRNA expression ratios in 56 human livers were strongly associated with several variants 2.5–7 kb upstream of the transcription start site (e.g., rs247616 p = 6.4×10−5, allele frequency 33%). In addition, a common alternatively spliced CETP isoform lacking exon 9 (Δ9), has been shown to prevent CETP secretion in a dominant-negative manner. The Δ 9 expression ranged from 10 to 48% of total CETP mRNA in 94 livers. Increased formation of this isoform was exclusively associated with an exon 9 polymorphism rs5883-C>T (p = 6.8×10−10) and intron 8 polymorphism rs9930761-T>C (5.6×10−8) (in high linkage disequilibrium with allele frequencies 6–7%). rs9930761 changes a key splicing branch point nucleotide in intron 8, while rs5883 alters an exonic splicing enhancer sequence in exon 9. The effect of these polymorphisms was evaluated in two clinical studies. In the Whitehall II study of 4745 subjects, both rs247616 and rs5883T/rs9930761C were independently associated with increased HDL-C levels in males with similar effect size (rs247616 p = 9.6×10−28 and rs5883 p = 8.6×10−10, adjusted for rs247616). In an independent multiethnic US cohort of hypertensive subjects with CAD (INVEST-GENE), rs5883T/rs9930761C alone were significantly associated with increased incidence of MI, stroke, and all-cause mortality in males (rs5883: OR 2.36 (CI 1.29–4.30), p = 0.005, n = 866). These variants did not reach significance in females in either study. Similar to earlier results linking low CETP activity with poor outcomes in males, our results suggest genetic, sex-dependent CETP splicing effects on cardiovascular risk by a mechanism independent of circulating HDL-C levels." @default.
• W2003287273 created "2016-06-24" @default.
• W2003287273 creator A5007875460 @default.
• W2003287273 creator A5014136030 @default.
• W2003287273 creator A5028271981 @default.
• W2003287273 creator A5043062825 @default.
• W2003287273 creator A5044804080 @default.
• W2003287273 creator A5061318078 @default.
• W2003287273 creator A5062174660 @default.
• W2003287273 creator A5064235722 @default.
• W2003287273 creator A5065188755 @default.
• W2003287273 creator A5067885487 @default.
• W2003287273 creator A5072564819 @default.
• W2003287273 creator A5081842404 @default.
• W2003287273 creator A5088669682 @default.
• W2003287273 date "2012-03-05" @default.
• W2003287273 modified "2023-10-18" @default.
• W2003287273 title "Cholesteryl Ester Transfer Protein (CETP) Polymorphisms Affect mRNA Splicing, HDL Levels, and Sex-Dependent Cardiovascular Risk" @default.
• W2003287273 cites W1527568400 @default.
• W2003287273 cites W1971226909 @default.
• W2003287273 cites W1983526026 @default.
• W2003287273 cites W1984255150 @default.
• W2003287273 cites W1997688244 @default.
• W2003287273 cites W2013608721 @default.
• W2003287273 cites W2026234937 @default.
• W2003287273 cites W2026439495 @default.
• W2003287273 cites W2031201242 @default.
• W2003287273 cites W2031532845 @default.
• W2003287273 cites W2038701624 @default.
• W2003287273 cites W2046801160 @default.
• W2003287273 cites W2048442514 @default.
• W2003287273 cites W2048760408 @default.
• W2003287273 cites W2058735916 @default.
• W2003287273 cites W2058805223 @default.
• W2003287273 cites W2075145300 @default.
• W2003287273 cites W2085265604 @default.
• W2003287273 cites W2100632362 @default.
• W2003287273 cites W2104018747 @default.
• W2003287273 cites W2105281057 @default.
• W2003287273 cites W2117262139 @default.
• W2003287273 cites W2118094114 @default.
• W2003287273 cites W2123337267 @default.
• W2003287273 cites W2125757745 @default.
• W2003287273 cites W2131620609 @default.
• W2003287273 cites W2132291037 @default.
• W2003287273 cites W2138196076 @default.
• W2003287273 cites W2141878312 @default.
• W2003287273 cites W2148635162 @default.
• W2003287273 cites W2161248463 @default.
• W2003287273 cites W2161633633 @default.
• W2003287273 cites W2258429073 @default.
• W2003287273 cites W2271199984 @default.
• W2003287273 cites W2339428433 @default.
• W2003287273 doi "https://doi.org/10.1371/journal.pone.0031930" @default.
• W2003287273 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3293889" @default.
• W2003287273 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22403620" @default.
• W2003287273 hasPublicationYear "2012" @default.
• W2003287273 type Work @default.
• W2003287273 sameAs 2003287273 @default.
• W2003287273 citedByCount "57" @default.
• W2003287273 countsByYear W20032872732013 @default.
• W2003287273 countsByYear W20032872732014 @default.
• W2003287273 countsByYear W20032872732015 @default.
• W2003287273 countsByYear W20032872732016 @default.
• W2003287273 countsByYear W20032872732017 @default.
• W2003287273 countsByYear W20032872732018 @default.
• W2003287273 countsByYear W20032872732019 @default.
• W2003287273 countsByYear W20032872732020 @default.
• W2003287273 countsByYear W20032872732021 @default.
• W2003287273 countsByYear W20032872732022 @default.
• W2003287273 countsByYear W20032872732023 @default.
• W2003287273 crossrefType "journal-article" @default.
• W2003287273 hasAuthorship W2003287273A5007875460 @default.
• W2003287273 hasAuthorship W2003287273A5014136030 @default.
• W2003287273 hasAuthorship W2003287273A5028271981 @default.
• W2003287273 hasAuthorship W2003287273A5043062825 @default.
• W2003287273 hasAuthorship W2003287273A5044804080 @default.
• W2003287273 hasAuthorship W2003287273A5061318078 @default.
• W2003287273 hasAuthorship W2003287273A5062174660 @default.
• W2003287273 hasAuthorship W2003287273A5064235722 @default.
• W2003287273 hasAuthorship W2003287273A5065188755 @default.
• W2003287273 hasAuthorship W2003287273A5067885487 @default.
• W2003287273 hasAuthorship W2003287273A5072564819 @default.
• W2003287273 hasAuthorship W2003287273A5081842404 @default.
• W2003287273 hasAuthorship W2003287273A5088669682 @default.
• W2003287273 hasBestOaLocation W20032872731 @default.
• W2003287273 hasConcept C104317684 @default.
• W2003287273 hasConcept C126322002 @default.
• W2003287273 hasConcept C134018914 @default.
• W2003287273 hasConcept C153911025 @default.
• W2003287273 hasConcept C180754005 @default.
• W2003287273 hasConcept C194583182 @default.
• W2003287273 hasConcept C197754878 @default.
• W2003287273 hasConcept C2778163477 @default.
• W2003287273 hasConcept C2780072125 @default.
• W2003287273 hasConcept C35605836 @default.
• W2003287273 hasConcept C36823959 @default.
• W2003287273 hasConcept C45505151 @default.

• next