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Fine-mapping angiotensin-converting enzyme gene: separate QTLs identified for hypertension and for ACE activity.


ABSTRACT: Angiotensin-converting enzyme (ACE) has been implicated in multiple biological system, particularly cardiovascular diseases. However, findings associating ACE insertion/deletion polymorphism with hypertension or other related traits are inconsistent. Therefore, in a two-stage approach, we aimed to fine-map ACE 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(-16) to <10(-33)). 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.

SUBMITTER: Chung CM 

PROVIDER: S-EPMC3587614 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Fine-mapping angiotensin-converting enzyme gene: separate QTLs identified for hypertension and for ACE activity.

Chung Chia-Min CM   Wang Ruey-Yun RY   Fann Cathy S J CS   Chen Jaw-Wen JW   Jong Yuh-Shiun YS   Jou Yuh-Shan YS   Yang Hsin-Chou HC   Kang Chih-Sen CS   Chen Chien-Chung CC   Chang Huan-Cheng HC   Pan Wen-Harn WH  

PloS one 20130304 3


Angiotensin-converting enzyme (ACE) has been implicated in multiple biological system, particularly cardiovascular diseases. However, findings associating ACE insertion/deletion polymorphism with hypertension or other related traits are inconsistent. Therefore, in a two-stage approach, we aimed to fine-map ACE 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 ped  ...[more]

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