PTGS1 P17L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

PTGS1 P17L

(PTGS1 Pro17Leu)


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

  • T @ chr9:125133507: 9.0% (969/10756) in EVS
  • T @ chr9:124173327: 6.1% (6/98) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (969/10756)

Publications
 

Lee CR, Bottone FG Jr, Krahn JM, Li L, Mohrenweiser HW, Cook ME, Petrovich RM, Bell DA, Eling TE, Zeldin DC. Identification and functional characterization of polymorphisms in human cyclooxygenase-1 (PTGS1). Pharmacogenet Genomics. 2007 Feb;17(2):145-60. PubMed PMID: 17301694; PubMed Central PMCID: PMC2041861.

 

Pettinella C, Romano M, Stuppia L, Santilli F, Liani R, Davì G. Cyclooxygenase-1 haplotype C50T/A-842G does not affect platelet response to aspirin. Thromb Haemost. 2009 Apr;101(4):687-90. PubMed PMID: 19350112.

 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr9:125133507

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr9:125133507

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr9:125133507

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr9:124173328

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr9:124173328

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr9:124173328

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr9:124173328

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr9:124173328

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr9:124173328

 

Other external references
 

    dbSNP
  • rs3842787
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [aspirin]
    Risk-associated allele: not specified. Phenotype: Serum thromboxane (TXB2), urinary 11-dehydro-TXB(2) and arachidonic acid-induced aggregation were measured in the group (n=30) taking a four-week course of low-dose aspirin. None of the indices evaluated was significantly different (p>0.05) between carriers of the 50T allele (n=1 homozygous, n=4 heterozygous) and carriers of the 50C allele (n=25 homozygous) at any time point during aspirin treatment and after withdrawal. In conclusion, this study found no relationship between the 50T/-842G haplotype and PTGS1 sensitivity to aspirin.
    www.ncbi.nlm.nih.gov/pubmed/19350112
  • [indomethacin]
    Risk-associated allele: not specified. Phenotype: In vitro inhibition studies with indomethacin demonstrated that the P17L variant was significantly more sensitive to indomethacin-mediated inhibition of PTGS1 activity relative to wild-type. Study type: FA
    www.ncbi.nlm.nih.gov/pubmed/17301694

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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