Impact of CTLA4 genotype and other immune response gene polymorphisms on outcomes after single umbilical cord blood transplantation

Blood. 2017 Jan 26;129(4):525-532. doi: 10.1182/blood-2016-06-722249. Epub 2016 Nov 3.

Abstract

We evaluated the impact of recipient and cord blood unit (CBU) genetic polymorphisms related to immune response on outcomes after unrelated cord blood transplantations (CBTs). Pretransplant DNA samples from 696 CBUs with malignant diseases were genotyped for NLRP1, NLRP2, NLRP3, TIRAP/Mal, IL10, REL, TNFRSF1B, and CTLA4. HLA compatibility was 6 of 6 in 10%, 5 of 6 in 39%, and ≥4 of 6 in 51% of transplants. Myeloablative conditioning was used in 80%, and in vivo T-cell depletion in 81%, of cases. The median number of total nucleated cells infused was 3.4 × 107/kg. In multivariable analysis, patients receiving CBUs with GG-CTLA4 genotype had poorer neutrophil recovery (hazard ratio [HR], 1.33; P = .02), increased nonrelapse mortality (NRM) (HR, 1.50; P < .01), and inferior disease-free survival (HR, 1.41; P = .02). We performed the same analysis in a more homogeneous subset of cohort 1 (cohort 2, n = 305) of patients who received transplants for acute leukemia, all given a myeloablative conditioning regimen, and with available allele HLA typing (HLA-A, -B, -C, and -DRB1). In this more homogeneous but smaller cohort, we were able to demonstrate that GG-CTLA4-CBU was associated with increased NRM (HR, 1.85; P = .01). Use of GG-CTLA4-CBU was associated with higher mortality after CBT, which may be a useful criterion for CBU selection, when multiple CBUs are available.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adaptor Proteins, Signal Transducing / immunology
  • Adolescent
  • Adult
  • Alleles
  • Apoptosis Regulatory Proteins / genetics
  • Apoptosis Regulatory Proteins / immunology
  • CTLA-4 Antigen / genetics
  • CTLA-4 Antigen / immunology*
  • Child
  • Child, Preschool
  • Cord Blood Stem Cell Transplantation*
  • Disease-Free Survival
  • Female
  • Fetal Blood / cytology
  • Fetal Blood / immunology
  • Fetal Blood / transplantation
  • Gene Expression
  • Genotype
  • HLA Antigens / genetics
  • HLA Antigens / immunology*
  • Hematologic Neoplasms / genetics*
  • Hematologic Neoplasms / immunology
  • Hematologic Neoplasms / pathology
  • Hematologic Neoplasms / therapy
  • Histocompatibility Testing
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Myeloablative Agonists / therapeutic use
  • NLR Proteins
  • Polymorphism, Genetic*
  • Proportional Hazards Models
  • Protein Isoforms / genetics
  • Protein Isoforms / immunology
  • Retrospective Studies
  • Transplantation Conditioning
  • Unrelated Donors

Substances

  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • HLA Antigens
  • Myeloablative Agonists
  • NLR Proteins
  • NLRP1 protein, human
  • Protein Isoforms