Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

Replication of associations between genetic polymorphisms and chronic graft-versus-host disease. Blood 2016 11 17;128(20):2450-2456



Pubmed ID


Pubmed Central ID




Scopus ID

2-s2.0-85015663767   15 Citations


Previous studies have identified single-nucleotide polymorphisms (SNPs) associated with the risk of chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic cell transplantation. The current study determined whether these associations could be replicated in large cohorts of donors and recipients. Each SNP was tested with cohorts of patients having the same donor type (HLA-matched related, unrelated, or both) reported in the original publication, and testing was limited to the same genome (recipient or donor) and genetic model (dominant, recessive, or allelic) reported in the original study. The 21 SNPs reported in this study represent 19 genes, and the analysis encompassed 22 SNP association tests. The hazard ratio (HR) point estimates and risk ratio point estimates corresponding to odds ratios in previous studies consistently fall outside the 95% confidence intervals of HR estimates in the current study. Despite the large size of the cohorts available for the current study, the 95% confidence intervals for most HRs did not exclude 1.0. Three SNPs representing CTLA4, HPSE, and IL1R1 showed evidence of association with the risk of chronic GVHD in unrelated donor-recipient pairs from 1 cohort, but none of these associations was replicated when tested in unrelated donor-recipient pairs from an independent cohort. Two SNPs representing CCR6 and FGFR1OP showed possible associations with the risk of chronic GVHD in related donor-recipient pairs but not in unrelated donor-recipient pairs. These results remain to be tested for replication in other cohorts of related donor-recipient pairs.

Author List

Martin PJ, Fan W, Storer BE, Levine DM, Zhao LP, Warren EH, Flowers ME, Lee SJ, Carpenter PA, Boeckh M, Hingorani S, Yan L, Hu Q, Preus L, Liu S, Spellman S, Zhu X, Pasquini M, McCarthy P, Stram D, Sheng X, Pooler L, Haiman CA, Sucheston-Campbell L, Hahn T, Hansen JA


Marcelo C. Pasquini MD, MS Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Child, Preschool
Chronic Disease
Cohort Studies
Genetic Association Studies
Graft vs Host Disease
Hematopoietic Stem Cell Transplantation
Histocompatibility Testing
Infant, Newborn
Middle Aged
Polymorphism, Single Nucleotide
Transplantation, Homologous
Unrelated Donors
Young Adult
jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a