PhenoModifier-Variant Detail

Variant "AGT:c.620C>T(p.Thr207Met)"

Search result: 1 record

Variant information

Gene:

AGT

Variant:

AGT:c.620C>T(p.Thr207Met)

Genomic location:

chr1:230845977(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_000029.3:c.620C>T(p.Thr207Met)

dbSNP ID:

rs4762

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered progression of CKD(1)

Detail：

Target disease:

Autosomal Dominant Polycystic Kidney Disease (DOID_898)

Effect type:

Expressivity

Modifier effect:

Altered progression of CKD

Evidence:

P<0.05

Effect:

Significant association between Thr207Met polymorphism of AGT and CKD progression and acts as an effect modifier of renal disease progression in ADPKD.

Reference:

PMID26482465

Title:

Angiotensinogen gene polymorphisms and progression of chronic kidney disease in ADPKD patients.

Species studied:

Human

Abstract:

Autosomal dominant polycystic kidney disease (ADPKD) is a multisystemic and progressive disorder characterized by cyst formation and kidney enlargement and ultimately renal failure. Reduction of CKD progression in the ADPKD by pharmacological blockade of the renin-angiotensin-aldosterone system (RAAS) using ACE inhibitors indicated the involvement of RAAS pathway in the progression of CKD. The aim of the present study is to investigate the role of angiotensinogen tag-single nucleotide polymorphisms (AGT tag-SNPs) in progression of CKD.