ADD1 G460W - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

ADD1 G460W

(ADD1 Gly460Trp)


Short summary

This variant is associated with salt-sensitivity in patients with hypertension.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr4:2906707: 15.7% (1686/10758) in EVS
  • T @ chr4:2876504: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 15.7% (1686/10758)

Publications
 

Sciarrone MT, Stella P, Barlassina C, Manunta P, Lanzani C, Bianchi G, Cusi D. ACE and alpha-adducin polymorphism as markers of individual response to diuretic therapy. Hypertension. 2003 Mar;41(3):398-403. Epub 2003 Feb 24. PubMed PMID: 12623934.

 

Yu Y, Niu T, Venners SA, Zhang Y, Chen C, Huang A, Feng Y, Li D, Xing H, Wu D, Peng S, Xu X. Associations of baseline blood pressure levels and efficacy of Benazepril treatment with interaction of alpha-adducin and ACE gene polymorphisms in hypertensives. Clin Exp Hypertens. 2005 Jan;27(1):83-94. PubMed PMID: 15773232.

 

Polonikov AV, Ushachev DV, Shestakov AM, Ivanov VP, Solodilova MA, Vialykh EK, Kozhukhov MA, Kolesnikova OE, Ivakin VE, Katargina LN, Kabanina VA, Kupriianova IaS, Tevs DS. [Polymorphism Gly460Trp of alpha-adducin gene and predisposition to essential hypertension. The role of gene-environment interactions in the development of the disease in Russian population]. Kardiologiia. 2011;51(10):33-9. Russian. PubMed PMID: 22117679.

 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr4:2906707

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr4:2906707

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr4:2876505

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr4:2876505

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr4:2876505

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr4:2876505

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr4:2876505

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr4:2876505

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr4:2876505

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr4:2876505

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr4:2876505

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr4:2876505

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr4:2876505

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr4:2876505

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr4:2876505

 

Other external references
 

    dbSNP
  • rs4961
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [hydrochlorothiazide]
    In a study of Italian hypertensives, patients carrying at least one I allele of ACE:I/D and one 460Trp allele (T variant) of alpha-adducin ADD1:Gly460Trp (rs4961 G>T) had the largest mean blood pressure decrease with hydrochlorothiazide treatment.
    www.ncbi.nlm.nih.gov/pubmed/12623934
  • [Hypertension]
    [benazepril]
    Ina study of 954 Chinese hypertensives, systolic blood pressure of those with ACE:I/D DD and ADD1:Gly460Trp Gly/Gly genotypes was significantly higher than carriers of ACE:I or ADD1:460Trp. However, genotype was not related to benazepril treatment response.
    www.ncbi.nlm.nih.gov/pubmed/15773232
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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