HLA‐E polymorphism in patients with nasopharyngeal carcinoma

Hirankarn, Nattiya; Kimkong, Ingorn; Mutirangura, Apiwat

doi:10.1111/j.1399-0039.2004.00311.x

Cited by 49 publications

(44 citation statements)

References 34 publications

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“…In 1975, Simons et al first reported the association between the HLA locus and nasopharyngeal carcinoma risk (6), and a number of subsequent studies have confirmed this finding (7)(8)(9)(10). Moreover, Lu et al carried out an affected sib pair linkage analysis, and their results suggested a linkage between the HLA region and the nasopharyngeal carcinoma phenotype (11).…”

Section: Introductionmentioning

confidence: 80%

A Functional Variant in the Transcriptional Regulatory Region of Gene LOC344967 Cosegregates with Disease Phenotype in Familial Nasopharyngeal Carcinoma

Jiang¹,

Qin²,

Zeng³

et al. 2006

Cancer Research

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Nasopharyngeal carcinoma is a common malignancy in Southeast Asian countries, and genetic background is a wellknown component of the complexity underlying its tumorigenic process. We have mapped a nasopharyngeal carcinoma susceptibility locus to chromosome 4p15.1-q12 in a previous linkage study on nasopharyngeal carcinoma pedigrees. In this study provided in this communication, we screened all the genes in this region, with a focus on exons, promoters, and the exon-intron boundary to identify nasopharyngeal carcinomaassociated mutations or functional variants. Importantly, we found a novel gene (LOC344967) with a single nucleotide polymorphism À32G/A in the promoter region. This gene is a member of the acyl CoA thioesterase family that plays an important role in fatty acid metabolism and is involved in the progression of various types of tumors. The À32A variant was found cosegregated with the disease phenotype in the nasopharyngeal carcinoma pedigrees that we previously used for the linkage study. Moreover, this À32A variant creates an activator protein (AP-1)-binding site in the transcriptional regulatory region of LOC344967, which significantly enhanced the binding of AP-1 to the promoter region and the transcription activity of the promoter in vivo. Furthermore, the expression of LOC344967 was significantly up-regulated at both mRNA and protein levels in nasopharyngeal carcinoma cells sharing the À32G/A genotype compared with nasopharyngeal carcinoma cells with the À32G/G genotype. Collectively, these results provide evidence that the À32A variant is a functional sequence change and may be related to nasopharyngeal carcinoma susceptibility in the families studied.

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Section: Introductionmentioning

confidence: 80%

A Functional Variant in the Transcriptional Regulatory Region of Gene LOC344967 Cosegregates with Disease Phenotype in Familial Nasopharyngeal Carcinoma

Jiang¹,

Qin²,

Zeng³

et al. 2006

Cancer Research

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“…The NPC susceptibility is associated with HLA-E*0103 allele, suggesting that this allele may be one of several causes contributing to NPC development. (Hirankarn et al, 2004). A genome-wide association study on NPC found significant association within the HLA region at chromosome 6p21.…”

Section: Hla-e and Hla-f In Cancer And Infectionmentioning

confidence: 99%

HLA-E, HLA-F and HLA-G — The Non-Classical Side of the MHC Cluster

Foroni¹,

Couto²,

Bettencourt³

et al. 2014

HLA and Associated Important Diseases

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“…The selection of patients and control was carried out by systematic random sample. The mean age of the patients was 26.85 years (range [19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38], and the average number of RM was 4 (range 3-6). All women selected were not having any previous live births (primary miscarriage).…”

Section: Methodsmentioning

confidence: 99%

“…The hypothesis of HLA-E allele homozygosity association with diseases was reported before in type 1 diabetes mellitus [23], nasopharyngeal carcinoma [24], HIV [25] and post-transplant complications [26,27]. Tamouza et al [26] was the first to report the association between HLA-E*0101 homozygosity and severe bacterial infections following HLA-matched unrelated donor hematopoietic stem cell transplantation and concluded that the presence of HLA-E*0101 allele could lead to inefficient presentation of bacterial peptides by the donor-derived antigen-presenting cells.…”

Section: Hla-e Genotypesmentioning

confidence: 99%

“…Tamouza et al [26] was the first to report the association between HLA-E*0101 homozygosity and severe bacterial infections following HLA-matched unrelated donor hematopoietic stem cell transplantation and concluded that the presence of HLA-E*0101 allele could lead to inefficient presentation of bacterial peptides by the donor-derived antigen-presenting cells. Moreover, the increased frequency of HLA-E*0103 homozygosity observed in patients with nasopharyngeal cancer may provide enhanced inhibitory signals to NK cells that allow tumour escape [24].…”

Section: Hla-e Genotypesmentioning

confidence: 99%

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Association Between HLA‐E *0101 Homozygosity and Recurrent Miscarriage in Egyptian Women

et al. 2011

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The objective was to investigate the frequency of human leucocyte antigen (HLA)‐E alleles in Egyptian women with and without recurrent miscarriage (RM) to evaluate their role on the maintenance of pregnancy. A case–control study was adopted. HLA‐E gene polymorphism typing was carried out by restriction fragment length polymorphism for 108 women with RM and 120 fertile female controls. The frequency of HLA‐E *0101 allele was higher in patients with RM and HLA‐E*0103 allele was higher in fertile controls, and the difference was statistically significant (P = 0.003, Pc = 0.006). HLA‐E*0101/0101 genotype was the most frequent genotype in patients (45.4%), followed by HLA‐E*0101/0103 (44.4%) and finally HLA‐E*0103/0103 genotype (10.2%). The difference in the frequency of HLA‐E*0101/0101 homozygous genotype in patients with RM compared with that in the fertile controls was statistically significant (OR =2.02, 95% CI = 1.13–3.62, P = 0.011, Pc = 0.033). We found an increased frequency of homozygosity for HLA‐E*0101 in Egyptian women with RM. HLA‐E*0101 homozygosity may thus be a risk factor for RM.

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HLA‐E polymorphism in patients with nasopharyngeal carcinoma

Cited by 49 publications

References 34 publications

A Functional Variant in the Transcriptional Regulatory Region of Gene LOC344967 Cosegregates with Disease Phenotype in Familial Nasopharyngeal Carcinoma

A Functional Variant in the Transcriptional Regulatory Region of Gene LOC344967 Cosegregates with Disease Phenotype in Familial Nasopharyngeal Carcinoma

HLA-E, HLA-F and HLA-G — The Non-Classical Side of the MHC Cluster

Association Between HLA‐E *0101 Homozygosity and Recurrent Miscarriage in Egyptian Women

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