PECAM1 L125V - GET-Evidence

Curation:
Currentness:

PECAM1 L125V

(PECAM1 Leu125Val)


Short summary

Mismatched genotypes in this variant between donor and recipient is associated with causing graft vs. host disease in bone marrow transplants.

Variant evidence
Computational 1

An adhesion molecule on the cell surface, may be recognized as an antigen

Functional
Case/Control 4

p = 0.004

See Behar E et al. 1996 (8532023).

Familial
 
Clinical importance
Severity 3

acute graft vs. host disease

Treatability 4

Avoiding mismatched genotypes addresses this issue, but may not be possible

Penetrance 1

We estimate it increases chances of GVHD by 25-30%, but GVHD is a rare condition as most individuals do not get bone marrow transplants.

 

Impact

Low clinical importance, Likely pharmacogenetic

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

other

Summary of published research, and additional commentary

We mark this as pharmacogenetic because it is normally benign, but could be pathogenic in the context of medical treatment — i.e. it might affect the type of medical treatment an individual would receive.

Assuming a GVHD rate of 30% in HLA matched siblings, the mismatched PECAM genotypes have a risk of ~58%, an attributable increased risk of ~28%.

Allele frequency

  • C @ chr17:59804698: 57.0% (73/128) in GET-Evidence
  • Frequency shown in summary reports: 57.0% (73/128)

Publications
 

Behar E, Chao NJ, Hiraki DD, Krishnaswamy S, Brown BW, Zehnder JL, Grumet FC. Polymorphism of adhesion molecule CD31 and its role in acute graft-versus-host disease. N Engl J Med. 1996 Feb 1;334(5):286-91. PubMed PMID: 8532023.

CD31 genotyping of 46 recipients of bone marrow: 14 with severe graph vs. host disease (GVHD) and 32 without GVHD, along with donor genotyping. 10 of the 14 recipients that had acute GVHD did not match donor genotype (HLA-matched siblings), while only 7 of the 32 without GVHD had a mismatch. The authors report p = 0.004, we calculate 0.0024 with two-tailed Fisher’s Exact.

Genomes
 

hu0D879F

 

 

 

hu43860C

 

hu604D39

 

 

hu9385BA

 

huAE6220

 

huBEDA0B

 

huC30901

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr17:59804699

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr17:59804699

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr17:59804699

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr17:59804699

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr17:59804699

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr17:59804699

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr17:59804699

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr17:59804699

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr17:59804699

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr17:59804699

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr17:59804699

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr17:59804699

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr17:59804699

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr17:59804699

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr17:59804699

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr17:59804699

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:59804699

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr17:59804699

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr17:59804699

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr17:59804699

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr17:59804699

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr17:59804699

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr17:59804699

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr17:59804699

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr17:59804699

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr17:59804699

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr17:59804699

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr17:59804699

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr17:59804699

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr17:59804699

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr17:59804699

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr17:59804699

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr17:59804699

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr17:59804699

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr17:59804699

 

Other external references
 

    dbSNP
  • rs668
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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