FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2235580051> ?p ?o ?g. }

• W2235580051 endingPage "e925" @default.
• W2235580051 startingPage "e925" @default.
• W2235580051 abstract "Genome-wide association studies (GWASs) have identified loci contributing to total serum bilirubin level. However, no exome-wide approaches have been performed to address this question. Using exome-wide approach, we assessed the influence of protein-coding variants on unconjugated, conjugated, and total serum bilirubin levels in a well-characterized cohort of 773 ambulatory elderly subjects from Italy. Coding variants were replicated in 227 elderly subjects from the same area. We identified 4 missense rare (minor allele frequency, MAF < 0.5%) and low-frequency (MAF, 0.5%–5%) coding variants located in the first exon of the UGT1A1 gene, which encodes for the substrate-binding domain (rs4148323 [MAF = 0.06%; p.Gly71Arg], rs144398951 [MAF = 0.06%; p.Ile215Val], rs35003977 [MAF = 0.78%; p.Val225Gly], and rs57307513 [MAF = 0.06%; p.Ser250Pro]). These variants were in strong linkage disequilibrium with 3 intronic UGT1A1 variants (rs887829, rs4148325, rs6742078), which were significantly associated with total bilirubin level (P = 2.34 × 10−34, P = 7.02 × 10−34, and P = 8.27 × 10−34), as well as unconjugated, and conjugated bilirubin levels. We also identified UGT1A6 variants in association with total (rs6759892, p.Ser7Ala, P = 1.98 × 10−26; rs2070959, p.Thr181Ala, P = 2.87 × 10−27; and rs1105879, p.Arg184Ser, P = 3.27 × 10−29), unconjugated, and conjugated bilirubin levels. All UGT1A1 intronic variants (rs887829, rs6742078, and rs4148325) and UGT1A6 coding variants (rs6759892, rs2070959, and rs1105879) were significantly associated with gallstone-related cholecystectomy risk. The UGT1A6 variant rs2070959 (p.Thr181Ala) was associated with the highest risk of gallstone–related cholecystectomy (OR, 4.58; 95% CI, 1.58–13.28; P = 3.21 × 10−3). Using an exome-wide approach we identified coding variants on UGT1A1 and UGT1A6 genes in association with serum bilirubin level and hyperbilirubinemia risk in elderly subjects. UGT1A1 intronic single-nucleotide polymorphisms (SNPs) (rs6742078, rs887829, rs4148324) serve as proxy markers for the low-frequency and rare UGT1A1 variants, thereby providing mechanistic explanation to the relationship between UGT1A1 intronic SNPs and the UGT1A1 enzyme activity. UGT1A1 and UGT1A6 variants might be potentially associated with gallstone-related cholecystectomy risk." @default.
• W2235580051 created "2016-06-24" @default.
• W2235580051 creator A5000309776 @default.
• W2235580051 creator A5010556332 @default.
• W2235580051 creator A5015123654 @default.
• W2235580051 creator A5033550197 @default.
• W2235580051 creator A5040116193 @default.
• W2235580051 creator A5047893621 @default.
• W2235580051 creator A5082117723 @default.
• W2235580051 creator A5085599584 @default.
• W2235580051 creator A5087810948 @default.
• W2235580051 creator A5088483720 @default.
• W2235580051 creator A5090435464 @default.
• W2235580051 creator A5091782898 @default.
• W2235580051 date "2015-06-01" @default.
• W2235580051 modified "2023-10-18" @default.
• W2235580051 title "Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects" @default.
• W2235580051 cites W1514736619 @default.
• W2235580051 cites W1572961809 @default.
• W2235580051 cites W1808672184 @default.
• W2235580051 cites W1893627670 @default.
• W2235580051 cites W1967912764 @default.
• W2235580051 cites W1972666423 @default.
• W2235580051 cites W1972900956 @default.
• W2235580051 cites W2002673669 @default.
• W2235580051 cites W2013759853 @default.
• W2235580051 cites W2015642465 @default.
• W2235580051 cites W2016527473 @default.
• W2235580051 cites W2024602064 @default.
• W2235580051 cites W2041804792 @default.
• W2235580051 cites W2047592914 @default.
• W2235580051 cites W2051512562 @default.
• W2235580051 cites W2053624352 @default.
• W2235580051 cites W2058148991 @default.
• W2235580051 cites W2061604798 @default.
• W2235580051 cites W2063655230 @default.
• W2235580051 cites W2071501253 @default.
• W2235580051 cites W2097804771 @default.
• W2235580051 cites W2101961436 @default.
• W2235580051 cites W2106775685 @default.
• W2235580051 cites W2112558687 @default.
• W2235580051 cites W2118200955 @default.
• W2235580051 cites W2124348780 @default.
• W2235580051 cites W2127204575 @default.
• W2235580051 cites W2145953108 @default.
• W2235580051 cites W2146949579 @default.
• W2235580051 cites W2152301430 @default.
• W2235580051 cites W2152745352 @default.
• W2235580051 cites W2158077626 @default.
• W2235580051 cites W2161159397 @default.
• W2235580051 cites W2163749485 @default.
• W2235580051 cites W2171670171 @default.
• W2235580051 cites W4211183474 @default.
• W2235580051 cites W52905296 @default.
• W2235580051 doi "https://doi.org/10.1097/md.0000000000000925" @default.
• W2235580051 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4616369" @default.
• W2235580051 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26039129" @default.
• W2235580051 hasPublicationYear "2015" @default.
• W2235580051 type Work @default.
• W2235580051 sameAs 2235580051 @default.
• W2235580051 citedByCount "12" @default.
• W2235580051 countsByYear W22355800512015 @default.
• W2235580051 countsByYear W22355800512016 @default.
• W2235580051 countsByYear W22355800512017 @default.
• W2235580051 countsByYear W22355800512018 @default.
• W2235580051 countsByYear W22355800512019 @default.
• W2235580051 countsByYear W22355800512020 @default.
• W2235580051 countsByYear W22355800512021 @default.
• W2235580051 countsByYear W22355800512022 @default.
• W2235580051 countsByYear W22355800512023 @default.
• W2235580051 crossrefType "journal-article" @default.
• W2235580051 hasAuthorship W2235580051A5000309776 @default.
• W2235580051 hasAuthorship W2235580051A5010556332 @default.
• W2235580051 hasAuthorship W2235580051A5015123654 @default.
• W2235580051 hasAuthorship W2235580051A5033550197 @default.
• W2235580051 hasAuthorship W2235580051A5040116193 @default.
• W2235580051 hasAuthorship W2235580051A5047893621 @default.
• W2235580051 hasAuthorship W2235580051A5082117723 @default.
• W2235580051 hasAuthorship W2235580051A5085599584 @default.
• W2235580051 hasAuthorship W2235580051A5087810948 @default.
• W2235580051 hasAuthorship W2235580051A5088483720 @default.
• W2235580051 hasAuthorship W2235580051A5090435464 @default.
• W2235580051 hasAuthorship W2235580051A5091782898 @default.
• W2235580051 hasBestOaLocation W22355800511 @default.
• W2235580051 hasConcept C104317684 @default.
• W2235580051 hasConcept C10590036 @default.
• W2235580051 hasConcept C126322002 @default.
• W2235580051 hasConcept C135763542 @default.
• W2235580051 hasConcept C153209595 @default.
• W2235580051 hasConcept C157410074 @default.
• W2235580051 hasConcept C16671776 @default.
• W2235580051 hasConcept C180754005 @default.
• W2235580051 hasConcept C186413461 @default.
• W2235580051 hasConcept C197754878 @default.
• W2235580051 hasConcept C2777513400 @default.
• W2235580051 hasConcept C35605836 @default.
• W2235580051 hasConcept C37463918 @default.
• W2235580051 hasConcept C501734568 @default.

• next