# Preliminary Data on SNP of Transplantation-Related Genes after Haploidentical Stem Cell Transplantation

## TL;DR

This study explores how genetic variations in HLA-related and co-stimulatory genes affect outcomes after a type of stem cell transplant called haplo-HSCT.

## Contribution

The study identifies specific SNPs in HLA and co-stimulatory genes that are linked to adverse outcomes after haplo-HSCT.

## Key findings

- Certain SNPs in HLA-DOA, RING1, HCP5, CTLA4, PDCD1, and TNFSF4 genes are significantly associated with adverse post-transplant outcomes.
- These SNPs may influence immune responses and could help in selecting better donors for haplo-HSCT.
- The findings suggest that genetic screening of these SNPs could improve transplant outcomes.

## Abstract

Background: Hematopoietic stem cell transplantation (HSCT) is one of the mainstream treatments for patients with hematologic malignancies. The matching status of human leukocyte antigen (HLA) between the donor and recipient is highly related to the outcomes of HSCT. Haploidentical HSCT (haplo-HSCT) has emerged as a type of HSCT for patients who cannot find a fully HLA-matched donor. In this study, we investigated whether the single nucleotide polymorphisms (SNPs) of the HLA-related genes and the genes encoding co-stimulatory molecules located on the non-HLA region are related to the outcomes of haplo-HSCT. Methods: The genomic DNAs of 24 patients and their respective donors were isolated from the peripheral blood obtained before performing haplo-HSCT. A total of 75 SNPs of the HLA-related genes (HCP5, NOTCH4, HLA-DOA, LTA, HSPA1L, BAG6, RING1, TRIM27, and HLA-DOB) and the genes located in the non-HLA genes involved in co-stimulatory signaling (CTLA4, TNFSF4, CD28, and PDCD1) were selected to explore their relationship with the outcomes after haplo-HSCT, including graft-versus-host disease, survival status, and relapse. Results: Our data revealed that specific donor or patient SNPs, including rs79327197 of the HLA-DOA gene, rs107822 and rs213210 of the RING1 gene, rs2523676 of the HCP5 gene, rs5742909 of the CTLA4 gene, rs5839828 and rs36084323 of the PDCD1 gene, and rs1234314 of the TNFSF4 gene, were significantly related to the development of adverse outcomes post-haplo-HSCT. Conclusions: These SNPs may play important roles in post-transplant immune response that can be considered during the selection of suitable donors.