Genomes and Genes
Gene Symbol: HLA-A
Description: major histocompatibility complex, class I, A
Alias: HLAA, HLA class I histocompatibility antigen, A-1 alpha chain, LOW QUALITY PROTEIN: HLA class I histocompatibility antigen, A-1 alpha chain, MHC class I antigen HLA-A heavy chain, leukocyte antigen class I-A
- Meuwissen P, Stolp B, Iannucci V, Vermeire J, Naessens E, Saksela K, et al. Identification of a highly conserved valine-glycine-phenylalanine amino acid triplet required for HIV-1 Nef function. Retrovirology. 2012;9:34 pubmed publisher..This surface appears to be essential for the majority of Nef functions and thus represents a prime target for the pharmacological inhibition of Nef. ..
- Shimizu A, Kawana Tachikawa A, Yamagata A, Han C, Zhu D, Sato Y, et al. Structure of TCR and antigen complexes at an immunodominant CTL epitope in HIV-1 infection. Sci Rep. 2013;3:3097 pubmed publisher..TCR from Y135F- or dually-specific CTL had unique mode of binding to the mutant epitope. Y135F has been reported as a processing mutant but CTL carrying structurally adequate TCR can be found in the patients. ..
- Kaburaki T, Takamoto M, Numaga J, Kawashima H, Araie M, Ohnogi Y, et al. Genetic association of HLA-A*2601 with ocular Behçet's disease in Japanese patients. Clin Exp Rheumatol. 2010;28:S39-44 pubmed..b>HLAA* 2601 would also be a possible marker for poor visual prognosis.
- Bergamaschi L, Leone M, Fasano M, Guerini F, Ferrante D, Bolognesi E, et al. HLA-class I markers and multiple sclerosis susceptibility in the Italian population. Genes Immun. 2010;11:173-80 pubmed publisher..In the absence of A*02, Cw*05 behaved as a risk factor, particularly in combination with DRB1*03 (OR=3.89, P=0.0006), indicating that Cw*05 might be a marker of protective or risk haplotypes, respectively. ..
- Lazaryan A, Song W, Lobashevsky E, Tang J, Shrestha S, Zhang K, et al. Human leukocyte antigen class I supertypes and HIV-1 control in African Americans. J Virol. 2010;84:2610-7 pubmed publisher..The study demonstrated the dominant role of HLA-B supertypes in HIV-1 clade B-infected African Americans and further dissected the contributions of individual class I alleles and their population frequencies to the supertype effects. ..
- Jinam T, Saitou N, Edo J, Mahmood A, Phipps M. Molecular analysis of HLA Class I and Class II genes in four indigenous Malaysian populations. Tissue Antigens. 2010;75:151-8 pubmed publisher..These results showed the scope of HLA diversity in these indigenous minority groups and may prove beneficial for future disease association, anthropological and forensic studies. ..
- Hjalgrim H, Rostgaard K, Johnson P, Lake A, Shield L, Little A, et al. HLA-A alleles and infectious mononucleosis suggest a critical role for cytotoxic T-cell response in EBV-related Hodgkin lymphoma. Proc Natl Acad Sci U S A. 2010;107:6400-5 pubmed publisher..Our findings suggest that HLA class I-restricted EBV-specific cytotoxic T-cell responses and events in the early immune response to EBV infection in IM play critical roles in the pathogenesis of EBV-related HL...
- Stagg H, Thomas M, van den Boomen D, Wiertz E, Drabkin H, Gemmill R, et al. The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER. J Cell Biol. 2009;186:685-92 pubmed publisher..Our data show that the TRC8 E3 ligase is required for MHC I dislocation from the ER and identify a new complex associated with mammalian ERAD. ..
- Ali A, Realegeno S, Yang O, Lewis M. Simultaneous assessment of CD4 and MHC-I downregulation by Nef primary isolates in the context of infection. J Virol Methods. 2009;161:297-304 pubmed publisher..These data demonstrated that this assay system allows rapid characterization of bulk and clonal Nef functional profiles that can be used in pathogenesis studies to define further its important role in pathogenesis. ..
- Tang J, Malhotra R, Song W, Brill I, Hu L, Farmer P, et al. Human leukocyte antigens and HIV type 1 viral load in early and chronic infection: predominance of evolving relationships. PLoS ONE. 2010;5:e9629 pubmed publisher..These observations can provide a useful framework for ongoing analyses of viral mutations induced by protective immune responses. ..
- Jere A, Fujita M, Adachi A, Nomaguchi M. Role of HIV-1 Nef protein for virus replication in vitro. Microbes Infect. 2010;12:65-70 pubmed publisher..This review summarizes and organizes current knowledge of HIV-1 Nef with respect to this particularly virological activity for understanding the basis of its in vivo function. ..
- Mackelprang R, Carrington M, John Stewart G, Lohman Payne B, Richardson B, Wamalwa D, et al. Maternal human leukocyte antigen A*2301 is associated with increased mother-to-child HIV-1 transmission. J Infect Dis. 2010;202:1273-7 pubmed publisher..26-7.51; P =.01; Pcorr is not significant). That maternal HLA-A*2301 was associated with transmission independent of plasma HIV-1 RNA levels suggests that HLA may alter infectivity through mechanisms other than influencing HIV-1 load. ..
- Jia X, Singh R, Homann S, Yang H, Guatelli J, Xiong Y. Structural basis of evasion of cellular adaptive immunity by HIV-1 Nef. Nat Struct Mol Biol. 2012;19:701-6 pubmed publisher..The structure shows how Nef functions as a clathrin-associated sorting protein to alter the specificity of host membrane trafficking and enable viral evasion of adaptive immunity. ..
- Dikeakos J, Atkins K, Thomas L, Emert Sedlak L, Byeon I, Jung J, et al. Small molecule inhibition of HIV-1-induced MHC-I down-regulation identifies a temporally regulated switch in Nef action. Mol Biol Cell. 2010;21:3279-92 pubmed publisher..Together, these studies resolve the seemingly controversial models that describe Nef-induced MHC-I down-regulation and provide new insights into the mechanism of Nef action. ..
- Leonard J, Filzen T, Carter C, Schaefer M, Collins K. HIV-1 Nef disrupts intracellular trafficking of major histocompatibility complex class I, CD4, CD8, and CD28 by distinct pathways that share common elements. J Virol. 2011;85:6867-81 pubmed publisher..These studies provide important new information on the similarities and differences with which Nef affects intracellular trafficking and help focus future research on the best potential pharmaceutical targets. ..
- Ueta M, Kaniwa N, Sotozono C, Tokunaga K, Saito Y, Sawai H, et al. Independent strong association of HLA-A*02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement. Sci Rep. 2014;4:4862 pubmed publisher..Analyses using data obtained from CM-SJS/TEN patients without SOC and patients with CM-unrelated SJS/TEN with SOC suggested that these two susceptibility alleles are involved in the development of only CM-SJS/TEN with SOC patients. ..
- Meguro A, Inoko H, Ota M, Katsuyama Y, Oka A, Okada E, et al. Genetics of Behçet disease inside and outside the MHC. Ann Rheum Dis. 2010;69:747-54 pubmed publisher..This GWAS highlights the premier genetic susceptibility locus for BD as the major histocompatibility complex itself, wherein reside two independent loci: HLA-B and HLA-A. ..
- Yu K, Gao X, Chen C, Yang X, Diehl S, Goldstein A, et al. Association of human leukocyte antigens with nasopharyngeal carcinoma in high-risk multiplex families in Taiwan. Hum Immunol. 2009;70:910-4 pubmed publisher..This finding requires replication in larger studies. ..
- Zuo J, Suen J, Wong A, Lewis M, Ayub A, Belzer M, et al. Functional analysis of HIV type 1 Nef gene variants from adolescent and adult survivors of perinatal infection. AIDS Res Hum Retroviruses. 2012;28:486-92 pubmed publisher..Survival into adulthood with HIV infection acquired in infancy is not uniformly linked to loss of function in nef. The Nef protein remains a potential target for immunization or pharmacologic intervention. ..
- Lipponen K, Gombos Z, Kiviniemi M, Siljander H, Lempainen J, Hermann R, et al. Effect of HLA class I and class II alleles on progression from autoantibody positivity to overt type 1 diabetes in children with risk-associated class II genotypes. Diabetes. 2010;59:3253-6 pubmed publisher..These results confirm that class I alleles affect the progression of diabetes-associated autoimmunity and demonstrate interactions between class I and class II alleles. ..
- Huang X, Hepkema B, Nolte I, Kushekhar K, Jongsma T, Veenstra R, et al. HLA-A*02:07 is a protective allele for EBV negative and a susceptibility allele for EBV positive classical Hodgkin lymphoma in China. PLoS ONE. 2012;7:e31865 pubmed publisher..028), EBV- cHL vs controls (p?=?0.045) and EBV+ vs EBV- cHL cases (p?=?2×10(-5)). In conclusion, HLA-A*02:07 is a predisposing allele for EBV+ cHL and a protective allele for EBV- cHL in the northern Chinese population...
- Guerini F, Tinelli C, Calabrese E, Agliardi C, Zanzottera M, de Silvestri A, et al. HLA-A*01 is associated with late onset of Alzheimer's disease in Italian patients. Int J Immunopathol Pharmacol. 2009;22:991-9 pubmed..Data herein suggest that the presence of HLA-A*01 results in delayed AD development, even in patients carrying APOE-4. These results could offer new insights into the etiopathogenesis of Alzheimer's disease. ..
- Burr M, Cano F, Svobodova S, Boyle L, Boname J, Lehner P. HRD1 and UBE2J1 target misfolded MHC class I heavy chains for endoplasmic reticulum-associated degradation. Proc Natl Acad Sci U S A. 2011;108:2034-9 pubmed publisher..Together these data support a physiological role for HRD1 and UBE2J1 in the homeostatic regulation of MHC class I assembly and expression. ..
- Kuo L, Baugh L, Denial S, Watkins R, Liu M, Garcia J, et al. Overlapping effector interfaces define the multiple functions of the HIV-1 Nef polyproline helix. Retrovirology. 2012;9:47 pubmed publisher..The polyproline segment is also adapted to downregulate MHCI with a non-canonical binding surface. Our results demonstrate that Nef polyproline helix is highly adapted to directly interact with multiple host cell proteins. ..
- Noble J, Valdes A, Varney M, Carlson J, Moonsamy P, Fear A, et al. HLA class I and genetic susceptibility to type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium. Diabetes. 2010;59:2972-9 pubmed publisher..g., C*1601) could be attributed to strong LD to another class I susceptibility locus (B*4403). These data indicate that HLA class I alleles, in addition to and independently from HLA class II alleles, are associated with type 1 diabetes. ..
- Rajapaksa U, Li D, Peng Y, McMichael A, Dong T, Xu X. HLA-B may be more protective against HIV-1 than HLA-A because it resists negative regulatory factor (Nef) mediated down-regulation. Proc Natl Acad Sci U S A. 2012;109:13353-8 pubmed publisher..We propose that the relative resistance to Nef-mediated down-regulation by the cytoplasmic domains of HLA-B compared with HLA-A contributes to the better control of HIV-1 infection associated with HLA-B-restricted CTLs. ..
- Vermeire J, Vanbillemont G, Witkowski W, Verhasselt B. The Nef-infectivity enigma: mechanisms of enhanced lentiviral infection. Curr HIV Res. 2011;9:474-89 pubmed..Hereby we aim to contribute to a better understanding of this highly conserved and therapeutically attractive Nef function. ..
- Lai M, Wen S, Lin Y, Shyr M, Lin P, Yang K. Distributions of human leukocyte antigen-A, -B, and -DRB1 alleles and haplotypes based on 46,915 Taiwanese donors. Hum Immunol. 2010;71:777-82 pubmed publisher..We believe that our findings in this study may provide useful information in search for HLA-matched donors for patients. ..
- Iijima S, Lee Y, Ode H, Arold S, Kimura N, Yokoyama M, et al. A noncanonical mu-1A-binding motif in the N terminus of HIV-1 Nef determines its ability to downregulate major histocompatibility complex class I in T lymphocytes. J Virol. 2012;86:3944-51 pubmed publisher..Our findings will help understanding of how HIV-1 evades the antiviral immune response by selectively redirecting the cellular protein trafficking system. ..
- Wonderlich E, Leonard J, Kulpa D, Leopold K, Norman J, Collins K. ADP ribosylation factor 1 activity is required to recruit AP-1 to the major histocompatibility complex class I (MHC-I) cytoplasmic tail and disrupt MHC-I trafficking in HIV-1-infected primary T cells. J Virol. 2011;85:12216-26 pubmed publisher..These data support a model in which Nef and ARF-1 stabilize an interaction between MHC-I and AP-1 to disrupt the presentation of HIV-1 epitopes to CTLs. ..
- Hung S, Chung W, Liu Z, Chen C, Hsih M, Hui R, et al. Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics. 2010;11:349-56 pubmed publisher..We suggest that aromatic antiepileptic drugs, including CBZ, OXC and PHT, should be avoided in the B*1502 carrier and caution should also be exercised for LTG. ..
- Matthews P, Adland E, Listgarten J, Leslie A, Mkhwanazi N, Carlson J, et al. HLA-A*7401-mediated control of HIV viremia is independent of its linkage disequilibrium with HLA-B*5703. J Immunol. 2011;186:5675-86 pubmed publisher..In addition, these studies identify a factor contributing to different HIV disease outcomes in individuals expressing HLA-B*5703. ..
- Song W, Ruder A, Hu L, Li Y, Ni R, Shao W, et al. Genetic epidemiology of glioblastoma multiforme: confirmatory and new findings from analyses of human leukocyte antigen alleles and motifs. PLoS ONE. 2009;4:e7157 pubmed publisher..71, p=0.02). HLA-A allelic product encoded by A*3201 is likely to be functionally important to GBM. The novel, sex-specific association will require further confirmation in other representative study populations. ..
- Hedström A, Sundqvist E, Bäärnhielm M, Nordin N, Hillert J, Kockum I, et al. Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis. Brain. 2011;134:653-64 pubmed publisher..The findings are consistent with our hypothesis that priming of the immune response in the lungs may subsequently lead to multiple sclerosis in genetically susceptible people. ..
- Mwimanzi P, Markle T, Ogata Y, Martin E, Tokunaga M, Mahiti M, et al. Dynamic range of Nef functions in chronic HIV-1 infection. Virology. 2013;439:74-80 pubmed publisher..Strong functional co-dependencies and the polyfunctional nature of patient-derived Nef sequences suggest a phenotypic requirement to maintain multiple Nef functions during chronic infection. ..
- Ikeda H, Takahashi Y, Yamazaki E, Fujiwara T, Kaniwa N, Saito Y, et al. HLA class I markers in Japanese patients with carbamazepine-induced cutaneous adverse reactions. Epilepsia. 2010;51:297-300 pubmed publisher..These data may suggest that HLA-B*5901 is one of the candidate markers for CBZ-induced SJS in Japanese...
- Pastorino R, Menni C, Barca M, Foco L, Saddi V, Gazzaniga G, et al. Association between protective and deleterious HLA alleles with multiple sclerosis in Central East Sardinia. PLoS ONE. 2009;4:e6526 pubmed publisher..Also, the analysis of SNPs suggests that there are other HLA genes involved in MS, but replication is needed. This opens up new perspective on the study of MS. ..
- Yoon J, Shin S, Park M, Song E, Roh E. HLA-A, -B, -DRB1 allele frequencies and haplotypic association from DNA typing data of 7096 Korean cord blood units. Tissue Antigens. 2010;75:170-3 pubmed publisher..Results from this large-scale analysis will be useful in Korean and Asian registry planning. ..
- Pasini E, Caggiari L, Dal Maso L, Martorelli D, Guidoboni M, Vaccher E, et al. Undifferentiated nasopharyngeal carcinoma from a nonendemic area: protective role of HLA allele products presenting conserved EBV epitopes. Int J Cancer. 2009;125:1358-64 pubmed publisher..These results have practical implications for the immunotherapy of UNPC. ..
- Ozeki T, Mushiroda T, Yowang A, Takahashi A, Kubo M, Shirakata Y, et al. Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet. 2011;20:1034-41 pubmed publisher..Our findings should provide useful information for making a decision of individualized medication of anticonvulsants. ..
- McCormack M, Alfirevic A, Bourgeois S, Farrell J, Kasperaviciute D, Carrington M, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med. 2011;364:1134-43 pubmed publisher..The presence of the allele increased the risk from 5.0% to 26.0%, whereas its absence reduced the risk from 5.0% to 3.8%. (Funded by the U.K. Department of Health and others.). ..
- Shen C, Zhu B, Ye S, Liu M, Yang G, Liu S, et al. Allelic diversity and haplotype structure of HLA loci in the Chinese Han population living in the Guanzhong region of the Shaanxi province. Hum Immunol. 2010;71:627-33 pubmed publisher..54%), DRB1*09 (13.18%) and DRB1*04 (11.21%). Three-loci haplotype analysis revealed that HLA A*30- B*13- DRB1*07 (4.11%), A*02 -B*46 -DRB1*09 (2.57%) and A*33 -B*58 -DRB1*17 (1...
- Lewis M, Lee P, Ng H, Yang O. Immune selection in vitro reveals human immunodeficiency virus type 1 Nef sequence motifs important for its immune evasion function in vivo. J Virol. 2012;86:7126-35 pubmed publisher..Overall, these data demonstrate that CTL pressure exerts a strong purifying selective pressure for MHC-I downregulation and identifies novel functional motifs present in Nef sequences in vivo. ..
- Bei J, Li Y, Jia W, Feng B, Zhou G, Chen L, et al. A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. Nat Genet. 2010;42:599-603 pubmed publisher..61) and rs28421666 (Pcombined=2.49x10(-18), OR=0.67). Our findings provide new insights into the pathogenesis of NPC by highlighting the involvement of pathways related to TNFRSF19 and MDS1-EVI1 in addition to HLA molecules. ..
- Falcón Lezama J, Ramos C, Zuniga J, Juárez Palma L, Rangel Flores H, García Trejo A, et al. HLA class I and II polymorphisms in Mexican Mestizo patients with dengue fever. Acta Trop. 2009;112:193-7 pubmed publisher..012, p(c)=NS, OR=7.0, 95%CI=1.11-73.8). We identified possible associations of HLA-B and HLA-DQB1 alleles with the risk of developing symptomatic disease, DF and DHF in a Mexican Mestizo population. ..
- Greenberg M, Iafrate A, Skowronski J. The SH3 domain-binding surface and an acidic motif in HIV-1 Nef regulate trafficking of class I MHC complexes. EMBO J. 1998;17:2777-89 pubmed
- Goldwich A, Hahn S, Schreiber S, Meier S, Kämpgen E, Wagner R, et al. Targeting HIV-1 Gag into the defective ribosomal product pathway enhances MHC class I antigen presentation and CD8+ T cell activation. J Immunol. 2008;180:372-82 pubmed..These results further underline the role of the defective ribosomal product pathway in adaptive immunity. ..
- Hu S, Luan J, Li B, Chen J, Cai K, Huang L, et al. Genetic link between Chaoshan and other Chinese Han populations: Evidence from HLA-A and HLA-B allele frequency distribution. Am J Phys Anthropol. 2007;132:140-50 pubmed..The different genetic background between northern and southern China may explain, at least partially, the prevalence of NPC among southern Chinese. ..
- Ueta M, Sotozono C, Tokunaga K, Yabe T, Kinoshita S. Strong association between HLA-A*0206 and Stevens-Johnson syndrome in the Japanese. Am J Ophthalmol. 2007;143:367-8 pubmed
- Yan C, Song Y, Lai S, Lai J, Zhang H, Zhao J, et al. Analysis of DNA polymorphism at HLA-A locus by PCR amplification with sequence specific oligonucleotide probe in Chinese Han and Uygur populations. Yi Chuan Xue Bao. 2002;29:384-9 pubmed
- Ramezani A, Hasanjani Roshan M, Kalantar E, Eslamifar A, Banifazl M, Taeb J, et al. Association of human leukocyte antigen polymorphism with outcomes of hepatitis B virus infection. J Gastroenterol Hepatol. 2008;23:1716-21 pubmed publisher..These findings emphasized that the host HLA polymorphism is an important factor in determining the outcome of HBV infection. ..
- Chan D, Cheung T, Tam A, Cheung J, Yim S, Lo K, et al. Risk association between human leukocyte antigen-A allele and high-risk human papillomavirus infection for cervical neoplasia in Chinese women. J Infect Dis. 2005;192:1749-56 pubmed..The results of the present study indicate that HLA-A polymorphism is one of the host genetic factors that alter the risk for the development of cervical cancer in Chinese women. ..