Variant "ACE:c.1665T>C(p.Phe555Phe)"
Search result: 1 record
Variant information
Gene:
ACE 
Variant:
ACE:c.1665T>C(p.Phe555Phe) 
Genomic location:
chr17:61573761(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_152830.2:c.1665T>C(p.Phe555Phe)
protein_coding NM_000789.3:c.3387T>C(p.Phe1129Phe)
protein_coding NM_001178057.1:c.1659-398T>C
dbSNP ID:
rs4362  
GWAS trait:
blood metabolite measurement 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Chronic Kidney Disease (DOID_784)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    ACE rs4362 contributed to the advancement of CKD.
    Reference:
    PMID27748299
    Title:
    Influence of angiotensin converting enzyme (ACE) gene rs4362 polymorphism on the progression of kidney failure in patients with autosomal dominant polycystic kidney disease (ADPKD).
    Species studied:
    Human
    Abstract:
    Autosomal dominant polycystic kidney disease (ADPKD) is an inherited systemic disorder, characterized by the fluid filled cysts in the kidneys leading to end stage renal failure in later years of life. Hypertension is one of the major factors independently contributing to the chronic kidney disease (CKD) progression. The renin-angiotensin aldosterone system (RAAS) genes have been extensively studied as hypertension candidate genes. The aim of the present study was to investigate the role of angiotensin converting enzyme tagging - single nucleotide polymorphisms (ACE tag-SNPs) in progression of CKD in patients with ADPKD. m0 ethods: In the present study six ACE tagSNPs (angiotensin converting enzyme tag single nucleotide polymorphisms) and insertion/deletion (I/D) in 102 ADPKD patients and 106 control subjects were investigated. The tagSNPs were genotyped using FRET-based KASPar method and ACE ID by polymerase chain reaction (PCR) and electrophoresis. Genotypes and haplotypes were compared between ADPKD patients and controls. Univariate and multivariate logistic regression analyses were performed to assess the effect of genotypes and hypertension on CKD advancement. Mantel-Haenszel (M-H) stratified analysis was performed to study the relationship between different CKD stages and hypertension and their interaction.