Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients

Loralie J. Langman, Lior Nesher, Dimpy P Shah, Jacques M. Azzi, Elizabeth J. Shpall, Katy Rezvani, John L. Black, Roy F. Chemaly

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

As part of a pharmacogenetic study, paired blood and oral fluid samples were tested for the IL28B polymorphism (rs12979860) before and after hematopoietic cell transplantation (HCT) to evaluate changes in the genotype and investigate the utility of genotyping in oral fluid in HCT recipients. In 54 patients with leukemia >18 years of age, samples were collected approximately 7 days before HCT and 60 days after HCT. IL28B polymorphism testing was performed using real-time PCR with allele-specific probes. Twenty-four patients had the same genotype as their donors. In 30 patients, the genotype was different from that of the donor. In the oral fluid samples, 4 retained the recipient's genotype, and 18 had a genotype that matched that of the donor. In the remaining 8 patients, the results could not be characterized and appeared to be a combination of both, suggesting mixed proportions of donor and recipient cells. The assumption was that the sloughed epithelial cells of the mouth are of recipient origin. However, oral fluid is a mixture that contains varying numbers of cells of the recipient and immunomodulatory cells from the donor. Therefore, the use of oral fluid after HCT for clinical pharmacogenetics purposes needs further investigation.

Original languageEnglish (US)
Pages (from-to)638-642
Number of pages5
JournalJournal of Molecular Diagnostics
Volume18
Issue number5
DOIs
StatePublished - Sep 1 2016
Externally publishedYes

Fingerprint

Pharmacogenetics
Cell Transplantation
Genotype
Tissue Donors
Transplants
Mouth
Real-Time Polymerase Chain Reaction
Leukemia
Cell Count
Epithelial Cells
Alleles
Transplant Recipients

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

Cite this

Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients. / Langman, Loralie J.; Nesher, Lior; Shah, Dimpy P; Azzi, Jacques M.; Shpall, Elizabeth J.; Rezvani, Katy; Black, John L.; Chemaly, Roy F.

In: Journal of Molecular Diagnostics, Vol. 18, No. 5, 01.09.2016, p. 638-642.

Research output: Contribution to journalArticle

Langman, Loralie J. ; Nesher, Lior ; Shah, Dimpy P ; Azzi, Jacques M. ; Shpall, Elizabeth J. ; Rezvani, Katy ; Black, John L. ; Chemaly, Roy F. / Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients. In: Journal of Molecular Diagnostics. 2016 ; Vol. 18, No. 5. pp. 638-642.
@article{dd71b2a6cb284115835888b740e70097,
title = "Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients",
abstract = "As part of a pharmacogenetic study, paired blood and oral fluid samples were tested for the IL28B polymorphism (rs12979860) before and after hematopoietic cell transplantation (HCT) to evaluate changes in the genotype and investigate the utility of genotyping in oral fluid in HCT recipients. In 54 patients with leukemia >18 years of age, samples were collected approximately 7 days before HCT and 60 days after HCT. IL28B polymorphism testing was performed using real-time PCR with allele-specific probes. Twenty-four patients had the same genotype as their donors. In 30 patients, the genotype was different from that of the donor. In the oral fluid samples, 4 retained the recipient's genotype, and 18 had a genotype that matched that of the donor. In the remaining 8 patients, the results could not be characterized and appeared to be a combination of both, suggesting mixed proportions of donor and recipient cells. The assumption was that the sloughed epithelial cells of the mouth are of recipient origin. However, oral fluid is a mixture that contains varying numbers of cells of the recipient and immunomodulatory cells from the donor. Therefore, the use of oral fluid after HCT for clinical pharmacogenetics purposes needs further investigation.",
author = "Langman, {Loralie J.} and Lior Nesher and Shah, {Dimpy P} and Azzi, {Jacques M.} and Shpall, {Elizabeth J.} and Katy Rezvani and Black, {John L.} and Chemaly, {Roy F.}",
year = "2016",
month = "9",
day = "1",
doi = "10.1016/j.jmoldx.2016.03.007",
language = "English (US)",
volume = "18",
pages = "638--642",
journal = "Journal of Molecular Diagnostics",
issn = "1525-1578",
publisher = "Association of Molecular Pathology",
number = "5",

}

TY - JOUR

T1 - Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients

AU - Langman, Loralie J.

AU - Nesher, Lior

AU - Shah, Dimpy P

AU - Azzi, Jacques M.

AU - Shpall, Elizabeth J.

AU - Rezvani, Katy

AU - Black, John L.

AU - Chemaly, Roy F.

PY - 2016/9/1

Y1 - 2016/9/1

N2 - As part of a pharmacogenetic study, paired blood and oral fluid samples were tested for the IL28B polymorphism (rs12979860) before and after hematopoietic cell transplantation (HCT) to evaluate changes in the genotype and investigate the utility of genotyping in oral fluid in HCT recipients. In 54 patients with leukemia >18 years of age, samples were collected approximately 7 days before HCT and 60 days after HCT. IL28B polymorphism testing was performed using real-time PCR with allele-specific probes. Twenty-four patients had the same genotype as their donors. In 30 patients, the genotype was different from that of the donor. In the oral fluid samples, 4 retained the recipient's genotype, and 18 had a genotype that matched that of the donor. In the remaining 8 patients, the results could not be characterized and appeared to be a combination of both, suggesting mixed proportions of donor and recipient cells. The assumption was that the sloughed epithelial cells of the mouth are of recipient origin. However, oral fluid is a mixture that contains varying numbers of cells of the recipient and immunomodulatory cells from the donor. Therefore, the use of oral fluid after HCT for clinical pharmacogenetics purposes needs further investigation.

AB - As part of a pharmacogenetic study, paired blood and oral fluid samples were tested for the IL28B polymorphism (rs12979860) before and after hematopoietic cell transplantation (HCT) to evaluate changes in the genotype and investigate the utility of genotyping in oral fluid in HCT recipients. In 54 patients with leukemia >18 years of age, samples were collected approximately 7 days before HCT and 60 days after HCT. IL28B polymorphism testing was performed using real-time PCR with allele-specific probes. Twenty-four patients had the same genotype as their donors. In 30 patients, the genotype was different from that of the donor. In the oral fluid samples, 4 retained the recipient's genotype, and 18 had a genotype that matched that of the donor. In the remaining 8 patients, the results could not be characterized and appeared to be a combination of both, suggesting mixed proportions of donor and recipient cells. The assumption was that the sloughed epithelial cells of the mouth are of recipient origin. However, oral fluid is a mixture that contains varying numbers of cells of the recipient and immunomodulatory cells from the donor. Therefore, the use of oral fluid after HCT for clinical pharmacogenetics purposes needs further investigation.

UR - http://www.scopus.com/inward/record.url?scp=84991207373&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84991207373&partnerID=8YFLogxK

U2 - 10.1016/j.jmoldx.2016.03.007

DO - 10.1016/j.jmoldx.2016.03.007

M3 - Article

C2 - 27371869

AN - SCOPUS:84991207373

VL - 18

SP - 638

EP - 642

JO - Journal of Molecular Diagnostics

JF - Journal of Molecular Diagnostics

SN - 1525-1578

IS - 5

ER -