PMID- 34986028 OWN - NLM STAT- MEDLINE DCOM- 20220217 LR - 20220426 IS - 1557-7430 (Electronic) IS - 1044-5498 (Linking) VI - 41 IP - 2 DP - 2022 Feb TI - Correlation of Human Leukocyte Antigen-E Genomic Polymorphism with Leukemia and Functional Study of Human Leukocyte Antigen-E Different Type Promoters. PG - 235-244 LID - 10.1089/dna.2021.0483 [doi] AB - Human leukocyte antigen (HLA)-E is one of the least polymorphic nonclassical major histocompatibility complex (MHC) I genes; its nucleotide variability can affect immune response. In this study, we assess the correlation between HLA-E polymorphism and leukemia and further study the transcriptional activity of promoter variation at nucleotide position-26. A total of 142 healthy blood donors and 111 leukemia patients were collected. The genomic sequence of HLA-E was amplified by high-fidelity reaction system and identified by Sanger and cloning sequencing. The dual luciferase reporter gene assay was used to detect the transcription activity of promoter variation at nucleotide position-26. In the HLA-E genomic sequence results, a total of 16 alleles and 32 genotypes were detected; the HLA-E*01:01:01:06 allele had a significantly lower frequency in leukemia patients than in healthy participants (p = 0.026 < 0.05). And the HLA-E*01:03:02:01, *01:03:02:01 genotype showed the greatest difference in frequency between the two groups of participants (p = 0.028 < 0.05). Eight HLA-E alleles were first reported worldwide in Chinese individuals. The results of the dual luciferase reporter gene experiment showed that the transcription activity of the mutant-type promoter (HLA-E*01:01:01:06 with "T" allele at nucleotide position-26) was significantly lower compared with the wild-type promoter (HLA-E*01:01:01:01 with "G" allele at nucleotide position-26) (p = 0.0242 < 0.05). HLA-E*01:01:01:06 allele has a protective effect against leukemia through decreasing transcription activity by "T" variation at nucleotide position-26. FAU - Xu, Yun-Ping AU - Xu YP AD - Shenzhen Institution of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China. FAU - Sun, Li-Yan AU - Sun LY AUID- ORCID: 0000-0003-0261-5300 AD - Shenzhen Institution of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China. AD - Department of Transfusion Medicine, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, Guangdong, China. FAU - Wang, Song-Xing AU - Wang SX AD - Shenzhen Institution of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China. FAU - Hong, Wen-Xu AU - Hong WX AD - Shenzhen Institution of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China. LA - eng PT - Journal Article DEP - 20220105 PL - United States TA - DNA Cell Biol JT - DNA and cell biology JID - 9004522 RN - 0 (HLA Antigens) SB - IM MH - *Genome, Human MH - *HLA Antigens/genetics MH - Humans MH - *Leukemia/genetics MH - Polymorphism, Genetic MH - Promoter Regions, Genetic OTO - NOTNLM OT - allele and genotype frequency OT - genomic full-length OT - human leukocyte antigen E molecule OT - leukemia OT - protective and susceptible gene OT - transcription activity EDAT- 2022/01/06 06:00 MHDA- 2022/02/19 06:00 CRDT- 2022/01/05 17:16 PHST- 2022/01/06 06:00 [pubmed] PHST- 2022/02/19 06:00 [medline] PHST- 2022/01/05 17:16 [entrez] AID - 10.1089/dna.2021.0483 [doi] PST - ppublish SO - DNA Cell Biol. 2022 Feb;41(2):235-244. doi: 10.1089/dna.2021.0483. Epub 2022 Jan 5.