GGH C6R - GET-Evidence

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

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Curation:
Currentness:

GGH C6R

(GGH Cys6Arg)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • G @ chr8:63951312: 22.8% (2416/10610) in EVS
  • G @ chr8:64113865: 6.0% (3/50) in GET-Evidence
  • Frequency shown in summary reports: 22.8% (2416/10610)

Publications
 

Cheng Q, Wu B, Kager L, Panetta JC, Zheng J, Pui CH, Relling MV, Evans WE. A substrate specific functional polymorphism of human gamma-glutamyl hydrolase alters catalytic activity and methotrexate polyglutamate accumulation in acute lymphoblastic leukaemia cells. Pharmacogenetics. 2004 Aug;14(8):557-67. PubMed PMID: 15284538.

 

van der Straaten RJ, Wessels JA, de Vries-Bouwstra JK, Goekoop-Ruiterman YP, Allaart CF, Bogaartz J, Tiller M, Huizinga TW, Guchelaar HJ. Exploratory analysis of four polymorphisms in human GGH and FPGS genes and their effect in methotrexate-treated rheumatoid arthritis patients. Pharmacogenomics. 2007 Feb;8(2):141-50. PubMed PMID: 17286537.

 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr8:64113866

 

Other external references
 

    dbSNP
  • rs1800909
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Arthritis, Rheumatoid]
    [methotrexate]
    This study found that only patients with the GGH 16C-allele and one or no copies of the GGH 452C-16T haplotype were associated with good clinical improvement at 3 months upon treatment with methotrexate.
    www.ncbi.nlm.nih.gov/pubmed/17286537
  • [Precursor Cell Lymphoblastic Leukemia-Lymphoma]
    [methotrexate]
    Patients (n= 66) with acute lymphoblastic leukemia showed large individual differences in cellular accumulation of long-chain MTXPG after high-dose methotrexate treatment. A SNP in the endoplasmic reticulum targeting sequence of human GGH, rs1800909 (16T>C), was detected in three acute lymphoblastic leukaemia patients with low GGH activity and four patients with high GGH activity.
    www.ncbi.nlm.nih.gov/pubmed/15284538

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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