FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3173485692> ?p ?o ?g. }

• W3173485692 abstract "The study aimed to elucidate the effects of rare genetic variants on the risk of type 2 diabetes (T2D).Weighted burden analysis of rare variants was applied to a sample of 200,000 exome-sequenced participants in the UK Biobank project, of whom over 13,000 were identified as having T2D. Variant weights were allocated based on allele frequency and predicted effect, as informed by a previous analysis of hyperlipidaemia.There was an exome-wide significant increased burden of rare, functional variants in three genes, GCK, HNF4A and GIGYF1. GIGYF1 has not previously been identified as a diabetes risk gene and its product appears to be involved in the modification of insulin signalling. A number of other genes did not attain exome-wide significance but were highly ranked and potentially of interest, including ALAD, PPARG, GYG1 and GHRL. Loss of function (LOF) variants were associated with T2D in GCK and GIGYF1 whereas nonsynonymous variants annotated as probably damaging were associated in GCK and HNF4A. Overall, fewer than 1% of T2D cases carried one of these variants. In HNF1A and HNF1B there was an excess of LOF variants among cases but the small numbers of these fell short of statistical significance.Rare genetic variants make an identifiable contribution to T2D in a small number of cases but these may provide valuable insights into disease mechanisms. As larger samples become available it is likely that additional genetic factors will be identified." @default.
• W3173485692 created "2021-07-05" @default.
• W3173485692 creator A5063408005 @default.
• W3173485692 date "2021-07-06" @default.
• W3173485692 modified "2023-10-16" @default.
• W3173485692 title "Analysis of rare coding variants in 200,000 exome‐sequenced subjects reveals novel genetic risk factors for type 2 diabetes" @default.
• W3173485692 cites W1972786933 @default.
• W3173485692 cites W1980740976 @default.
• W3173485692 cites W1996111067 @default.
• W3173485692 cites W1996549380 @default.
• W3173485692 cites W2020427316 @default.
• W3173485692 cites W2059717716 @default.
• W3173485692 cites W2084957323 @default.
• W3173485692 cites W2099085143 @default.
• W3173485692 cites W2130410032 @default.
• W3173485692 cites W2159636096 @default.
• W3173485692 cites W2284253967 @default.
• W3173485692 cites W2321269964 @default.
• W3173485692 cites W2343137896 @default.
• W3173485692 cites W2417483443 @default.
• W3173485692 cites W2461793432 @default.
• W3173485692 cites W2489530548 @default.
• W3173485692 cites W2753169659 @default.
• W3173485692 cites W2776492343 @default.
• W3173485692 cites W2792343801 @default.
• W3173485692 cites W2795605948 @default.
• W3173485692 cites W2883211905 @default.
• W3173485692 cites W2883622734 @default.
• W3173485692 cites W2899469743 @default.
• W3173485692 cites W2945877977 @default.
• W3173485692 cites W2951673592 @default.
• W3173485692 cites W2997377963 @default.
• W3173485692 cites W3004770467 @default.
• W3173485692 cites W3043896994 @default.
• W3173485692 cites W3092264509 @default.
• W3173485692 cites W3120624632 @default.
• W3173485692 cites W4254433130 @default.
• W3173485692 doi "https://doi.org/10.1002/dmrr.3482" @default.
• W3173485692 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34216101" @default.
• W3173485692 hasPublicationYear "2021" @default.
• W3173485692 type Work @default.
• W3173485692 sameAs 3173485692 @default.
• W3173485692 citedByCount "7" @default.
• W3173485692 countsByYear W31734856922021 @default.
• W3173485692 countsByYear W31734856922022 @default.
• W3173485692 countsByYear W31734856922023 @default.
• W3173485692 crossrefType "journal-article" @default.
• W3173485692 hasAuthorship W3173485692A5063408005 @default.
• W3173485692 hasBestOaLocation W31734856922 @default.
• W3173485692 hasConcept C104317684 @default.
• W3173485692 hasConcept C10590036 @default.
• W3173485692 hasConcept C106208931 @default.
• W3173485692 hasConcept C134018914 @default.
• W3173485692 hasConcept C135763542 @default.
• W3173485692 hasConcept C141231307 @default.
• W3173485692 hasConcept C149904235 @default.
• W3173485692 hasConcept C153209595 @default.
• W3173485692 hasConcept C161600633 @default.
• W3173485692 hasConcept C16671776 @default.
• W3173485692 hasConcept C180754005 @default.
• W3173485692 hasConcept C186413461 @default.
• W3173485692 hasConcept C2777180221 @default.
• W3173485692 hasConcept C39263347 @default.
• W3173485692 hasConcept C501734568 @default.
• W3173485692 hasConcept C54355233 @default.
• W3173485692 hasConcept C555293320 @default.
• W3173485692 hasConcept C60644358 @default.
• W3173485692 hasConcept C86803240 @default.
• W3173485692 hasConceptScore W3173485692C104317684 @default.
• W3173485692 hasConceptScore W3173485692C10590036 @default.
• W3173485692 hasConceptScore W3173485692C106208931 @default.
• W3173485692 hasConceptScore W3173485692C134018914 @default.
• W3173485692 hasConceptScore W3173485692C135763542 @default.
• W3173485692 hasConceptScore W3173485692C141231307 @default.
• W3173485692 hasConceptScore W3173485692C149904235 @default.
• W3173485692 hasConceptScore W3173485692C153209595 @default.
• W3173485692 hasConceptScore W3173485692C161600633 @default.
• W3173485692 hasConceptScore W3173485692C16671776 @default.
• W3173485692 hasConceptScore W3173485692C180754005 @default.
• W3173485692 hasConceptScore W3173485692C186413461 @default.
• W3173485692 hasConceptScore W3173485692C2777180221 @default.
• W3173485692 hasConceptScore W3173485692C39263347 @default.
• W3173485692 hasConceptScore W3173485692C501734568 @default.
• W3173485692 hasConceptScore W3173485692C54355233 @default.
• W3173485692 hasConceptScore W3173485692C555293320 @default.
• W3173485692 hasConceptScore W3173485692C60644358 @default.
• W3173485692 hasConceptScore W3173485692C86803240 @default.
• W3173485692 hasIssue "1" @default.
• W3173485692 hasLocation W31734856921 @default.
• W3173485692 hasLocation W31734856922 @default.
• W3173485692 hasLocation W31734856923 @default.
• W3173485692 hasLocation W31734856924 @default.
• W3173485692 hasOpenAccess W3173485692 @default.
• W3173485692 hasPrimaryLocation W31734856921 @default.
• W3173485692 hasRelatedWork W130237814 @default.
• W3173485692 hasRelatedWork W2141653244 @default.
• W3173485692 hasRelatedWork W2226787034 @default.
• W3173485692 hasRelatedWork W2943730265 @default.
• W3173485692 hasRelatedWork W3008227670 @default.
• W3173485692 hasRelatedWork W3040147484 @default.

• next