PTGS1 P17L - GET-Evidence

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

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(PTGS1 Pro17Leu)

Short summary


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


Insufficiently evaluated pharmacogenetic

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

Inheritance pattern


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)


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.



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

  • rs3842787
  • [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.
  • [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

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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