FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1988803485> ?p ?o ?g. }

• W1988803485 endingPage "444" @default.
• W1988803485 startingPage "443" @default.
• W1988803485 abstract "To the Editor: Nakajima et al. (Nakajima et al., 2002Nakajima T Jorde LB Ishigami T Umemura S Emi M Lalouel J-M Inoue I Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.Am J Hum Genet. 2002; 70: 108-123Abstract Full Text Full Text PDF PubMed Scopus (115) Google Scholar) have provided a valuable SNP-based haplotype map of the angiotensinogen gene, AGT (MIM 106150), in both Japanese and white American populations. Several linkage and association studies have supported the hypothesis that angiotensinogen plays a role in the pathogenesis of essential hypertension (MIM 145500) and preeclampsia (MIM 189800) (Jeunemaitre et al. Jeunemaitre et al., 1992Jeunemaitre X Soubrier F Kotelevtsev Y Lifton R Williams C Charru A Hunt S Hopkins P Williams R Lalouel J Corvol P Molecular basis of human hypertension: role of angiotensinogen.Cell. 1992; 71: 169-180Abstract Full Text PDF PubMed Scopus (1675) Google Scholar; Ward et al. Ward et al., 1993Ward K Hata A Jeunemaitre X Helin C Nelson L Namikawa C Farrington PF Ogasawara M Suzumori K Tomoda S Berrebi S Sasaki M Corvol P Lifton RP Lalouel J-M A molecular variant of angiotensinogen associated with preeclampsia.Nat Genet. 1993; 4: 59-61Crossref PubMed Scopus (426) Google Scholar; Hata et al. Hata et al., 1994Hata A Namikawa C Sasaki M Sato K Nakamura T Tamura K Lalouel J Angiotensinogen as a risk factor for essential hypertension in Japan.J Clin Invest. 1994; 93: 1285-1287Crossref PubMed Scopus (257) Google Scholar). An exon 2 SNP that results in a Thr-Met polymorphism at codon 235 has been associated with variation in plasma-angiotensinogen concentrations and with hypertensive disorders. It is not clear whether this is due to either a deleterious effect of a 235Thr-bearing allele or a protective effect of the 235Met allele. In nonpregnant subjects, 235Met is associated with lower concentrations of plasma angiotensinogen, although, in normotensive pregnant subjects, this pattern was reversed in the population that we studied (Jeunemaitre et al. Jeunemaitre et al., 1992Jeunemaitre X Soubrier F Kotelevtsev Y Lifton R Williams C Charru A Hunt S Hopkins P Williams R Lalouel J Corvol P Molecular basis of human hypertension: role of angiotensinogen.Cell. 1992; 71: 169-180Abstract Full Text PDF PubMed Scopus (1675) Google Scholar; Morgan et al. Morgan et al., 2000Morgan L Crawshaw S Baker P Broughton Pipkin F Kalsheker N Polymorphism in oestrogen response element associated with variation in plasma angiotensinogen concentrations in healthy pregnant women.J Hypertens. 2000; 18: 553-557Crossref PubMed Scopus (15) Google Scholar). We have genotyped polymorphisms in both the 5′ flanking region (corresponding to G−217A, A−20C, and A−6G) and exon 2 (Thr174Met [C3889T] and Thr235Met [C4072T]) of AGT, in 96 healthy white Europeans from Nottingham, United Kingdom, who were recruited sequentially from a blood-donor clinic (Morgan et al. Morgan et al., 1996Morgan L Broughton-Pipkin F Kalsheker N DNA polymorphisms and linkage disequilibrium in the angiotensinogen gene.Hum Genet. 1996; 98: 194-198Crossref PubMed Scopus (18) Google Scholar). This investigation demonstrated patterns—both of linkage disequilibrium and of haplotype frequencies—similar to those described for the Utah population that Nakajima et al. (Nakajima et al., 2002Nakajima T Jorde LB Ishigami T Umemura S Emi M Lalouel J-M Inoue I Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.Am J Hum Genet. 2002; 70: 108-123Abstract Full Text Full Text PDF PubMed Scopus (115) Google Scholar) studied. We have confirmed their observation that a single haplotype carrying 235Met (4072T) accounts for more than half of the genes in white Europeans (58% in the Nottingham population). Variants in both the 5′ flanking region and exon 2 were found only on alleles bearing 235Thr. We have also screened the 3′ end of the gene—including the 3′ UTR of exon 5—and the 1,350 bases of flanking region between exon 5 and the AGT dinucleotide repeat polymorphism (Kotelevstev et al. Kotelevtsev et al., 1991Kotelevtsev Y Clauser E Corvol P Soubrier F Dinucleotide repeat polymorphism in the human angiotensinogen gene.Nucleic Acids Res. 1991; 19: 6978Crossref PubMed Scopus (57) Google Scholar) (EMBL Nucleotide Sequence Database accession number AJ277498). We used SSCP analysis and direct sequencing, to characterize six SNPs (table 1). Three polymorphisms identified in this region have not, to our knowledge, previously been described; the remaining three correspond to SNPs 40 (C11535A), 41 (C11608T), and 42 (G12058A), as observed by Nakajima et al. (Nakajima et al., 2002Nakajima T Jorde LB Ishigami T Umemura S Emi M Lalouel J-M Inoue I Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.Am J Hum Genet. 2002; 70: 108-123Abstract Full Text Full Text PDF PubMed Scopus (115) Google Scholar).Table 1Frequency of SNPs and Standardized Linkage-Disequilibrium CoefficientsD′=D/DmaxaD′ is the standardized coefficient of linkage disequilibrium; D is the classical coefficient of linkage disequilibrium; and Dmax is the maximum D value that is possible given the allele frequencies.SNPFrequency (n=192 Chromosomes)235Thr11535A11608T12058A12194C12429TMet235Thr.42………………C11535A.31−.803……………C11608T.33−.6671.000…………G12058A.06.568−.733−.750………A12194C.06.734−.754−.769.911……C12429T.07.629−.771−.7861.0001.000…T12822C.39.816−.829−.720.863.874.766a D′ is the standardized coefficient of linkage disequilibrium; D is the classical coefficient of linkage disequilibrium; and Dmax is the maximum D value that is possible given the allele frequencies. Open table in a new tab The frequencies of haplotypes that combine these six SNPs and Thr235Met were estimated by the expectation-maximization method, by use of Arlequin software. Strong linkage disequilibrium was observed between all polymorphisms, and five haplotypes accounted for 91% of those observed in this study (table 2). Interestingly, polymorphisms at C11535A and C11608T, which are in complete linkage disequilibrium with each other, defined two common haplotypes bearing 235Met. To our knowledge, these are the only SNPs that have, to date, been described in white Europeans, which split the common haplotype bearing 235Met; all other variants have been described in association with the 235Thr allele. C11535A lies within the 3′ UTR of exon 5; C11608T lies 30 bases downstream from the 3′ end of exon 5. Whether they have functional effects on angiotensinogen expression requires further investigation, but it is worth noting that in vitro experiments have demonstrated that there is enhancer activity in this region (Nibu et al. Nibu et al., 1994aNibu Y Takahashi S Tanimoto K Murakami K Fukamizu A Identification of cell type-dependent enhancer core element located in the 3′-downstream region of the human angiotensinogen gene.J Biol Chem. 1994a; 269: 28598-28605Abstract Full Text PDF PubMed Google ScholarNibu et al., 1994bNibu Y Tanimoto K Takahashi S Ono H Murakami K Fukamizu A A cell type-dependent enhancer core element is located in exon 5 of the human angiotensinogen gene.Biochem Biophys Res Commun. 1994b; 205: 1102-1108Crossref PubMed Scopus (20) Google Scholar). Given the interest in the Thr235Met polymorphism as a marker for hypertensive disorders, we recommend that genotyping at C11535A or C11608T be included in the haplotyping profile for angiotensinogen in linkage-disequilibrium studies.Table 2Common Haplotypes Defined by the Met235Thr Polymorphism and Six SNPs at the 3′ End of AGTAllele at SNPaNucleotides are numbered with respect to the transcription start site.HaplotypeMet235ThrC11535AC11608AG12058AA12194CC12429TT12822CFrequency1MetCCGACT.272MetAAGACT.273ThrCCGACC.284ThrCCACTC.055ThrCCGACT.04a Nucleotides are numbered with respect to the transcription start site. Open table in a new tab We thank the Trustees of Nottingham University Hospital for their financial support of this project." @default.
• W1988803485 created "2016-06-24" @default.
• W1988803485 creator A5006635932 @default.
• W1988803485 creator A5025625720 @default.
• W1988803485 creator A5026057318 @default.
• W1988803485 date "2002-08-01" @default.
• W1988803485 modified "2023-09-27" @default.
• W1988803485 title "SNPs at the 3′ End of the Angiotensinogen Gene Define Two Haplotypes Associated with the Common 235Met Variant" @default.
• W1988803485 cites W1649718329 @default.
• W1988803485 cites W2012832499 @default.
• W1988803485 cites W2026842337 @default.
• W1988803485 cites W2035480164 @default.
• W1988803485 cites W2042702623 @default.
• W1988803485 cites W2064807737 @default.
• W1988803485 cites W2069687047 @default.
• W1988803485 cites W2073264424 @default.
• W1988803485 cites W2147563403 @default.
• W1988803485 doi "https://doi.org/10.1086/341721" @default.
• W1988803485 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/379180" @default.
• W1988803485 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12154781" @default.
• W1988803485 hasPublicationYear "2002" @default.
• W1988803485 type Work @default.
• W1988803485 sameAs 1988803485 @default.
• W1988803485 citedByCount "3" @default.
• W1988803485 crossrefType "journal-article" @default.
• W1988803485 hasAuthorship W1988803485A5006635932 @default.
• W1988803485 hasAuthorship W1988803485A5025625720 @default.
• W1988803485 hasAuthorship W1988803485A5026057318 @default.
• W1988803485 hasBestOaLocation W19888034851 @default.
• W1988803485 hasConcept C104317684 @default.
• W1988803485 hasConcept C135763542 @default.
• W1988803485 hasConcept C153209595 @default.
• W1988803485 hasConcept C180754005 @default.
• W1988803485 hasConcept C197754878 @default.
• W1988803485 hasConcept C54355233 @default.
• W1988803485 hasConcept C86803240 @default.
• W1988803485 hasConceptScore W1988803485C104317684 @default.
• W1988803485 hasConceptScore W1988803485C135763542 @default.
• W1988803485 hasConceptScore W1988803485C153209595 @default.
• W1988803485 hasConceptScore W1988803485C180754005 @default.
• W1988803485 hasConceptScore W1988803485C197754878 @default.
• W1988803485 hasConceptScore W1988803485C54355233 @default.
• W1988803485 hasConceptScore W1988803485C86803240 @default.
• W1988803485 hasIssue "2" @default.
• W1988803485 hasLocation W19888034851 @default.
• W1988803485 hasLocation W19888034852 @default.
• W1988803485 hasLocation W19888034853 @default.
• W1988803485 hasLocation W19888034854 @default.
• W1988803485 hasOpenAccess W1988803485 @default.
• W1988803485 hasPrimaryLocation W19888034851 @default.
• W1988803485 hasRelatedWork W1901150897 @default.
• W1988803485 hasRelatedWork W1966708416 @default.
• W1988803485 hasRelatedWork W1967429441 @default.
• W1988803485 hasRelatedWork W2060631033 @default.
• W1988803485 hasRelatedWork W2072704524 @default.
• W1988803485 hasRelatedWork W2327017833 @default.
• W1988803485 hasRelatedWork W2377221997 @default.
• W1988803485 hasRelatedWork W2410452464 @default.
• W1988803485 hasRelatedWork W2418740792 @default.
• W1988803485 hasRelatedWork W860817473 @default.
• W1988803485 hasVolume "71" @default.
• W1988803485 isParatext "false" @default.
• W1988803485 isRetracted "false" @default.
• W1988803485 magId "1988803485" @default.
• W1988803485 workType "article" @default.