國家衛生研究院 NHRI:Item 3990099045/7167
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    题名: Fine-mapping angiotensin-converting enzyme gene: Separate QTLs identified for hypertension and for ACE activity
    作者: Chung, CM;Wang, RY;Fann, CS;Chen, JW;Jong, YS;Jou, YS;Yang, HC;Kang, CS;Chen, CC;Chang, HC;Pan, WH
    贡献者: Division of Health Services and Preventive Medicine
    摘要: Angiotensin-converting enzyme (ACE) has been implicated in multiple biological system, particularly cardiovascular diseases. However, findings associating insertion/deletion polymorphism with hypertension or other related traits are inconsistent. Therefore, in a two-stage approach, we aimed to fine-map in order to narrow-down the function-specific locations. We genotyped 31 single nucleotide polymorphisms (SNPs) of ACE from 1168 individuals from 305 young-onset (age </=40) hypertension pedigrees, and found four linkage disequilibrium (LD) blocks. A tag-SNP, rs1800764 on LD block 2, upstream of and near the ACE promoter, was significantly associated with young-onset hypertension (p = 0.04). Tag-SNPs on all LD blocks were significantly associated with ACE activity (p-value: 10 to <10). The two regions most associated with ACE activity were found between exon13 and intron18 and between intron 20 and 3'UTR, as revealed by measured haplotype analysis. These two major QTLs of ACE activity and the moderate effect variant upstream of ACE promoter for young-onset hypertension were replicated by another independent association study with 842 subjects.
    日期: 2013-03-04
    關聯: PLoS ONE. 2013 Mar 4;8(3):Article number e56119.
    Link to: http://dx.doi.org/10.1371/journal.pone.0056119
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1932-6203&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000315634900004
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84874627047
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