Gene Symbol: HLA-C
Description: major histocompatibility complex, class I, C
Alias: D6S204, HLA-JY3, HLAC, HLC-C, MHC, PSORS1, HLA class I histocompatibility antigen, Cw-1 alpha chain, HLA class I histocompatibility antigen, C alpha chain, HLA-C alpha chain, HLA-C antigen, MHC class I antigen heavy chain HLA-C, human leukocyte antigen-C alpha chain, major histocompatibility antigen HLA-C
Species: human
Products:     HLA-C

Top Publications

  1. 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
    ..b>MHC Class I (MHCI) downregulation was only partially inhibited by mutating the PXXPXR motif residues, but was fully ..
  2. Ellinghaus E, Ellinghaus D, Stuart P, Nair R, Debrus S, Raelson J, et al. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. Nat Genet. 2010;42:991-5 pubmed publisher
    ..TRAF3IP2 encodes a protein involved in IL-17 signaling and which interacts with members of the Rel/NF-?B transcription factor family. ..
  3. Hiby S, Regan L, Lo W, Farrell L, Carrington M, Moffett A. Association of maternal killer-cell immunoglobulin-like receptors and parental HLA-C genotypes with recurrent miscarriage. Hum Reprod. 2008;23:972-6 pubmed publisher
    ..These findings support the idea that successful placentation depends on the correct balance of NK cell inhibition and activation in response to trophoblast. ..
  4. Lowe D, Cook M, Bowman S, Briggs D. Association of killer cell immunoglobulin-like receptors with primary Sjogren's syndrome. Rheumatology (Oxford). 2009;48:359-62 pubmed publisher
    ..This implies that autologous KIR-ligand interaction is a contributory factor to predisposition for this disease. ..
  5. Ovsyannikova I, Vierkant R, Pankratz V, O Byrne M, Jacobson R, Poland G. HLA haplotype and supertype associations with cellular immune responses and cytokine production in healthy children after rubella vaccine. Vaccine. 2009;27:3349-58 pubmed publisher
  6. Tang J, Shao W, Yoo Y, Brill I, Mulenga J, Allen S, et al. Human leukocyte antigen class I genotypes in relation to heterosexual HIV type 1 transmission within discordant couples. J Immunol. 2008;181:2626-35 pubmed
    ..Thus, HLA class I gene products not only mediate HIV-1 pathogenesis and evolution but also influence heterosexual HIV-1 transmission. ..
  7. Kunert K, Seiler M, Mashreghi M, Klippert K, Schonemann C, Neumann K, et al. KIR/HLA ligand incompatibility in kidney transplantation. Transplantation. 2007;84:1527-33 pubmed
    ..014) could be observed for patients with stable renal function. Our data illustrate that certain KIR/HLA class I ligand combinations between donor and recipient might influence graft short-term outcome after renal transplantation. ..
  8. Atkins K, Thomas L, Youker R, Harriff M, Pissani F, You H, et al. HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down-regulation: analysis using short interfering RNA and knock-out mice. J Biol Chem. 2008;283:11772-84 pubmed publisher
    ..virus, type 1, negative factor (Nef) initiates down-regulation of cell-surface major histocompatibility complex-I (MHC-I) by assembling an Src family kinase (SFK)-ZAP70/Syk-phosphoinositide 3-kinase (PI3K) cascade through the ..
  9. Strange A, Capon F, Spencer C, Knight J, Weale M, Allen M, et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet. 2010;42:985-90 pubmed publisher
    ..95 × 10??). ERAP1 plays an important role in MHC class I peptide processing...

More Information


  1. 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
    HIV-1 Nef triggers down-regulation of cell-surface MHC-I by assembling a Src family kinase (SFK)-ZAP-70/Syk-PI3K cascade...
  2. 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
    ..The best-characterized targets of Nef are major histocompatibility complex class I (MHC-I) and CD4, but Nef also has been reported to target several other proteins, including CD8β, CD28, CD80, CD86, and ..
  3. Vidal Castineira J, Lopez Vazquez A, Diaz Pena R, Alonso Arias R, Martinez Borra J, Perez R, et al. Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection. J Virol. 2010;84:475-81 pubmed publisher
    ..However, the KIR2DL3/KIR2DL3-HLA-C1C1 genotype clearly correlated with a satisfactory response to treatment, defined by the clearance of HCV RNA. ..
  4. Trachtenberg E, Bhattacharya T, Ladner M, Phair J, Erlich H, Wolinsky S. The HLA-B/-C haplotype block contains major determinants for host control of HIV. Genes Immun. 2009;10:673-7 pubmed publisher
  5. Liu Y, Helms C, Liao W, Zaba L, Duan S, Gardner J, et al. A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet. 2008;4:e1000041 pubmed publisher
    ..K.. Strongest associations were with the class I region of the major histocompatibility complex (MHC). The most highly associated SNP was rs10484554, which lies 34.7 kb upstream from HLA-C (P = 7...
  6. Rousseau C, Daniels M, Carlson J, Kadie C, Crawford H, Prendergast A, et al. HLA class I-driven evolution of human immunodeficiency virus type 1 subtype c proteome: immune escape and viral load. J Virol. 2008;82:6434-46 pubmed publisher
  7. 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 HIV-1 protein Nef inhibits antigen presentation by class I major histocompatibility complex (MHC-I)...
  8. Fan X, Yang S, Huang W, Wang Z, Sun L, Liang Y, et al. Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet. 2008;4:e1000038 pubmed publisher
    b>PSORS1 (psoriasis susceptibility gene 1) is a major susceptibility locus for psoriasis. Several fine-mapping studies have highlighted a 300-kb candidate region of PSORS1 where multiple biologically plausible candidate genes were suggested...
  9. Pereyra F, Jia X, McLaren P, de Bakker P, Walker B, Ripke S, et al. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science. 2010;330:1551-7 pubmed publisher
    ..diseases have repeatedly shown strong genetic associations within the major histocompatibility complex (MHC); however, the basis for these associations remains elusive...
  10. Lubben N, Sahlender D, Motley A, Lehner P, Benaroch P, Robinson M. HIV-1 Nef-induced down-regulation of MHC class I requires AP-1 and clathrin but not PACS-1 and is impeded by AP-2. Mol Biol Cell. 2007;18:3351-65 pubmed
    ..of human immunodeficiency virus (HIV)-1-infected cells by Nef, a virally encoded protein that is thought to reroute MHC-I to the trans-Golgi network (TGN) in a phosphofurin acidic cluster sorting protein (PACS) 1, adaptor protein (AP)-..
  11. 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
    ..nef sequences into an HIV-derived vector that permits simultaneous evaluation of the impact of the Nef protein on MHC-I and CD4 cell surface expression...
  12. Hanvesakul R, Spencer N, Cook M, Gunson B, Hathaway M, Brown R, et al. Donor HLA-C genotype has a profound impact on the clinical outcome following liver transplantation. Am J Transplant. 2008;8:1931-41 pubmed publisher
    ..Modulation of HLA-C and KIR interactions represents an important novel approach to promote long-term graft and patient survival. ..
  13. Fellay J, Shianna K, Ge D, Colombo S, Ledergerber B, Weale M, et al. A whole-genome association study of major determinants for host control of HIV-1. Science. 2007;317:944-7 pubmed
    ..These findings emphasize the importance of studying human genetic variation as a guide to combating infectious agents. ..
  14. Moesta A, Norman P, Yawata M, Yawata N, Gleimer M, Parham P. Synergistic polymorphism at two positions distal to the ligand-binding site makes KIR2DL2 a stronger receptor for HLA-C than KIR2DL3. J Immunol. 2008;180:3969-79 pubmed
    ..This study demonstrates how allelic polymorphism at sites distal to the ligand-binding site of KIR2DL2/3 has diversified this receptor's interactions with HLA-C. ..
  15. Zuniga J, Romero V, Azocar J, Terreros D, Vargas Rojas M, Torres García D, et al. Protective KIR-HLA interactions for HCV infection in intravenous drug users. Mol Immunol. 2009;46:2723-7 pubmed publisher
    ..These results support the hypothesis that activator signaling, mediated by KIR2DS4, plays a determinant role in the regulation of NK cell antiviral-activity. ..
  16. Ho P, Barton A, Worthington J, Plant D, Griffiths C, Young H, et al. Investigating the role of the HLA-Cw*06 and HLA-DRB1 genes in susceptibility to psoriatic arthritis: comparison with psoriasis and undifferentiated inflammatory arthritis. Ann Rheum Dis. 2008;67:677-82 pubmed
    ..Patients with PsA having type I psoriasis, therefore, have a genetic background different to those with type II psoriasis, and adjustment for this is necessary in future studies that investigate the genetic susceptibility of PsA. ..
  17. Schaefer M, Wonderlich E, Roeth J, Leonard J, Collins K. HIV-1 Nef targets MHC-I and CD4 for degradation via a final common beta-COP-dependent pathway in T cells. PLoS Pathog. 2008;4:e1000131 pubmed publisher
    ..expression of the viral receptor (CD4) and molecules capable of presenting HIV antigens to the immune system (MHC-I)...
  18. Feng B, Sun L, Soltani Arabshahi R, Bowcock A, Nair R, Stuart P, et al. Multiple Loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet. 2009;5:e1000606 pubmed publisher
    ..However, it is not known whether there are other psoriasis loci within the MHC in addition to HLA-C...
  19. 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. ..
  20. Noviello C, Benichou S, Guatelli J. Cooperative binding of the class I major histocompatibility complex cytoplasmic domain and human immunodeficiency virus type 1 Nef to the endosomal AP-1 complex via its mu subunit. J Virol. 2008;82:1249-58 pubmed
    ..virus type 1 Nef provides immune evasion by decreasing the expression of major histocompatibility complex class I (MHC-I) at the surfaces of infected cells...
  21. Liao H, Lin K, Chang Y, Chen C, Liang T, Chen W, et al. Human leukocyte antigen and clinical and demographic characteristics in psoriatic arthritis and psoriasis in Chinese patients. J Rheumatol. 2008;35:891-5 pubmed
    ..Psoriasis patients with the HLA-B*27 and/or -Cw*12 may have higher risk of developing PsA. Ours is the first study to assess the genetic role of HLA in patients with psoriasis and PsA in a Chinese population. ..
  22. Hollenbach J, Ladner M, Saeteurn K, Taylor K, Mei L, Haritunians T, et al. Susceptibility to Crohn's disease is mediated by KIR2DL2/KIR2DL3 heterozygosity and the HLA-C ligand. Immunogenetics. 2009;61:663-71 pubmed publisher
    ..These results show for the first time that disease susceptibility may be related to heterozygosity at a specific KIR locus, and that HLA ligand genotype influences the relative effect of the KIR genotype. ..
  23. Brumme Z, Wang B, Nair K, Brumme C, de Pierres C, Reddy S, et al. Impact of select immunologic and virologic biomarkers on CD4 cell count decrease in patients with chronic HIV-1 subtype C infection: results from Sinikithemba Cohort, Durban, South Africa. Clin Infect Dis. 2009;49:956-64 pubmed publisher
  24. Nair R, Duffin K, Helms C, Ding J, Stuart P, Goldgar D, et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009;41:199-204 pubmed publisher
    ..Our results expand the catalog of genetic loci implicated in psoriasis susceptibility and suggest priority targets for study in other auto-immune disorders. ..
  25. Yindom L, Leligdowicz A, Martin M, Gao X, Qi Y, Zaman S, et al. Influence of HLA class I and HLA-KIR compound genotypes on HIV-2 infection and markers of disease progression in a Manjako community in West Africa. J Virol. 2010;84:8202-8 pubmed publisher
    ..These data emphasize the unique nature of the effects of HLA and HLA/KIR combinations on HIV-2 immune responses relative to HIV-1, which could be related to their distinct clinical course. ..
  26. Levinson R, Du Z, Luo L, Holland G, Rao N, Reed E, et al. KIR and HLA gene combinations in Vogt-Koyanagi-Harada disease. Hum Immunol. 2008;69:349-53 pubmed publisher
    ..The trends observed in this study are consistent with those reported for other autoimmune diseases...
  27. Limou S, Le Clerc S, Coulonges C, Carpentier W, Dina C, Delaneau O, et al. Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis. 2009;199:419-26 pubmed publisher
    ..The present study, the first GWAS of HIV-1 nonprogressors, underscores the potential for some HLA genes to control disease progression soon after infection. ..
  28. Levinson R, Du Z, Luo L, Monnet D, Tabary T, Brezin A, et al. Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals. Genes Immun. 2008;9:249-58 pubmed publisher
  29. Catano G, Kulkarni H, He W, Marconi V, Agan B, Landrum M, et al. HIV-1 disease-influencing effects associated with ZNRD1, HCP5 and HLA-C alleles are attributable mainly to either HLA-A10 or HLA-B*57 alleles. PLoS ONE. 2008;3:e3636 pubmed publisher
  30. Hung C, Thomas L, Ruby C, Atkins K, Morris N, Knight Z, et al. HIV-1 Nef assembles a Src family kinase-ZAP-70/Syk-PI3K cascade to downregulate cell-surface MHC-I. Cell Host Microbe. 2007;1:121-33 pubmed
    ..Nef downregulates cell-surface MHC-I molecules by an uncharacterized PI3K pathway requiring the actions of two Nef motifs-EEEE(65) and PXXP(75)...
  31. 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. ..
  32. Maiers M, Gragert L, Klitz W. High-resolution HLA alleles and haplotypes in the United States population. Hum Immunol. 2007;68:779-88 pubmed
    ..The electronic availability of this information will be useful for projects central to the typing and use of population data in HLA applications. ..
  33. Carneiro V, Lemaire D, Bendicho M, Souza S, Cavalcante L, Angelo A, et al. Natural killer cell receptor and HLA-C gene polymorphisms among patients with hepatitis C: a comparison between sustained virological responders and non-responders. Liver Int. 2010;30:567-73 pubmed publisher
    ..001). Host genetic factors may be associated with a non-response to antiviral therapy. KIR2DL5 is a candidate gene involved in immunomodulation associated with non-response to antiviral therapy. ..
  34. Marangon A, Silva G, de Moraes C, Grotto R, Pardini M, de Pauli D, et al. KIR genes and their human leukocyte antigen ligands in the progression to cirrhosis in patients with chronic hepatitis C. Hum Immunol. 2011;72:1074-8 pubmed publisher
    ..7%, p = 0.06) and in the F4 group compared with the F0-F3 group (65.7% vs 46.7%, p = 0.05, OR = 2.19, 95% CI = 1.01-4.73). NK and KIR ligands may contribute to the development of liver damage in patients chronically infected by HCV. ..
  35. Graef T, Moesta A, Norman P, Abi Rached L, Vago L, Older Aguilar A, et al. KIR2DS4 is a product of gene conversion with KIR3DL2 that introduced specificity for HLA-A*11 while diminishing avidity for HLA-C. J Exp Med. 2009;206:2557-72 pubmed publisher
    ..Correlation between the worldwide distributions of functional KIR2DS4 and HLA-A*11 points to the physiological importance of their mutual interaction. ..
  36. 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
    ..We found the VGF motif, and each individual amino acid of this motif, to be critical for downregulation of MHC-I and CXCR4...
  37. Hiby S, Apps R, Sharkey A, Farrell L, Gardner L, Mulder A, et al. Maternal activating KIRs protect against human reproductive failure mediated by fetal HLA-C2. J Clin Invest. 2010;120:4102-10 pubmed publisher
    ..These findings highlight the complexity and central importance of specific combinations of activating KIR and HLA-C in maternal-fetal immune interactions that determine reproductive success. ..
  38. Mwimanzi P, Markle T, Martin E, Ogata Y, Kuang X, Tokunaga M, et al. Attenuation of multiple Nef functions in HIV-1 elite controllers. Retrovirology. 2013;10:1 pubmed publisher
  39. Quan C, Ren Y, Xiang L, Sun L, Xu A, Gao X, et al. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet. 2010;42:614-8 pubmed publisher
    ..We identified two independent association signals within the major histocompatibility complex (MHC) region (rs11966200, Pcombined=1.48x10(-48), OR=1.90; rs9468925, Pcombined=2.21x10(-33), OR=0.74)...
  40. Thomas R, Apps R, Qi Y, Gao X, Male V, O hUigin C, et al. HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C. Nat Genet. 2009;41:1290-4 pubmed publisher
  41. 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
    Human immunodeficiency virus type 1 (HIV-1) Nef downregulates major histocompatibility complex class I (MHC-I), impairing the clearance of infected cells by CD8(+) cytotoxic T lymphocytes (CTLs)...
  42. Kirchhoff F, Schindler M, Specht A, Arhel N, Munch J. Role of Nef in primate lentiviral immunopathogenesis. Cell Mol Life Sci. 2008;65:2621-36 pubmed publisher
    ..This evolutionary loss of a specific Nef function may contribute to the high virulence of HIV-1 in humans. ..
  43. Neisig A, Melief C, Neefjes J. Reduced cell surface expression of HLA-C molecules correlates with restricted peptide binding and stable TAP interaction. J Immunol. 1998;160:171-9 pubmed
    ..The restricted peptide binding of certain HLA-C alleles provides one explanation for the reduced expression of HLA-C molecules at the cell surface. Other mechanisms will be discussed...
  44. Foster J, Garcia J. HIV-1 Nef: at the crossroads. Retrovirology. 2008;5:84 pubmed publisher
    ..Finally, we conclude that inhibiting the CD4 downregulation function is the most promising Nef-targeted approach for developing a new anti-viral as a contribution to combating AIDS. ..
  45. Kulpa D, Collins K. The emerging role of HLA-C in HIV-1 infection. Immunology. 2011;134:116-22 pubmed publisher
    ..This review highlights these results and explores the ways in which HLA-C surface expression could affect immune system function in the setting of HIV disease. ..
  46. Romero V, Azocar J, Zuniga J, Clavijo O, Terreros D, Gu X, et al. Interaction of NK inhibitory receptor genes with HLA-C and MHC class II alleles in Hepatitis C virus infection outcome. Mol Immunol. 2008;45:2429-36 pubmed publisher
    ..05, OR=0.30) with CV. Our findings suggested a role for MHC class II alleles in Hepatitis C virus peptide presentation to T cells together with NK ligand interaction involving ..
  47. Foster J, Garcia J. Role of Nef in HIV-1 replication and pathogenesis. Adv Pharmacol. 2007;55:389-409 pubmed
  48. de Cid R, Riveira Munoz E, Zeeuwen P, Robarge J, Liao W, Dannhauser E, et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet. 2009;41:211-5 pubmed publisher
    ..LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility. ..
  49. Dunne C, Crowley J, Hagan R, Rooney G, Lawlor E. HLA-A, B, Cw, DRB1, DQB1 and DPB1 alleles and haplotypes in the genetically homogenous Irish population. Int J Immunogenet. 2008;35:295-302 pubmed publisher
    ..HLA-A, B, Cw, DRB1, DQB1 and DPB1 analysis confirms that this young homogenous population is characterized by features of a North-western European anthropological type with limited influence of additional ethnic haplotypes. ..
  50. Matthews P, Prendergast A, Leslie A, Crawford H, Payne R, Rousseau C, et al. Central role of reverting mutations in HLA associations with human immunodeficiency virus set point. J Virol. 2008;82:8548-59 pubmed publisher
    ..The significance of these results is in highlighting the rationale for an HIV vaccine that can induce these broad responses. ..
  51. Franceschi D, Mazini P, Rudnick C, Sell A, Tsuneto L, de Melo F, et al. Association between killer-cell immunoglobulin-like receptor genotypes and leprosy in Brazil. Tissue Antigens. 2008;72:478-82 pubmed publisher
    ..Some KIR-HLA genotypes could be associated to the development of clinical forms of leprosy and should be investigated further. ..
  52. Lesueur F, Oudot T, Heath S, Foglio M, Lathrop M, Prud homme J, et al. ADAM33, a new candidate for psoriasis susceptibility. PLoS ONE. 2007;2:e906 pubmed
    ..In addition to unambiguous linkage to the major susceptibility locus PSORS1 on Chromosome 6p21, we provided evidence for a susceptibility locus on Chromosome 20p13...
  53. Chantarangsu S, Mushiroda T, Mahasirimongkol S, Kiertiburanakul S, Sungkanuparph S, Manosuthi W, et al. HLA-B*3505 allele is a strong predictor for nevirapine-induced skin adverse drug reactions in HIV-infected Thai patients. Pharmacogenet Genomics. 2009;19:139-46 pubmed publisher
    ..On account of its high specificity (98.9%) in identifying NVP-induced rash, it is possible to utilize the HLA-B*3505 as a marker to avoid a subset of NVP-induced rash, at least in Thai population. ..
  54. Capon F, Bijlmakers M, Wolf N, Quaranta M, Huffmeier U, Allen M, et al. Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Mol Genet. 2008;17:1938-45 pubmed publisher
    ..have clearly identified a primary disease susceptibility locus lying within the major histocompatibility complex (MHC), but have generated conflicting results for other genomic regions...
  55. Baugh L, Garcia J, Foster J. Functional characterization of the human immunodeficiency virus type 1 Nef acidic domain. J Virol. 2008;82:9657-67 pubmed publisher
    ..immunodeficiency virus type 1 (HIV-1) accessory protein Nef downregulates major histocompatibility complex class I (MHC-I) from the cell surface...
  56. Specht A, Telenti A, Martinez R, Fellay J, Bailes E, Evans D, et al. Counteraction of HLA-C-mediated immune control of HIV-1 by Nef. J Virol. 2010;84:7300-11 pubmed publisher
    ..enhancement of virion infectivity and modulation of CD4, CD28, and the major histocompatibility complex class II (MHC-II)-associated invariant chain (Ii), while this was not observed in subjects with the -35TT genotype...
  57. Chang M, Li Y, Yan C, Callis Duffin K, Matsunami N, Garcia V, et al. Variants in the 5q31 cytokine gene cluster are associated with psoriasis. Genes Immun. 2008;9:176-81 pubmed
  58. 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
    Downregulation of major histocompatibility complex class I (MHC-I) by HIV-1 Nef protein is indispensable for evasion of protective immunity by HIV-1...
  59. 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. ..
  60. Guinan K, Cunningham R, Meenagh A, Gonzalez A, Dring M, McGuinness B, et al. Signatures of natural selection and coevolution between killer cell immunoglobulin-like receptors (KIR) and HLA class I genes. Genes Immun. 2010;11:467-78 pubmed publisher
    ..Many of the associations between KIR and HLA in the Irish differ from those previously reported, which argues against universal selective pressures for specific KIR:HLA combinations in diverse human populations. ..
  61. Knapp S, Warshow U, Hegazy D, Brackenbury L, Guha I, Fowell A, et al. Consistent beneficial effects of killer cell immunoglobulin-like receptor 2DL3 and group 1 human leukocyte antigen-C following exposure to hepatitis C virus. Hepatology. 2010;51:1168-75 pubmed publisher
    ..Their functions are controlled by inhibitory receptors for major histocompatability complex (MHC) class I, including the killer cell immunoglobulin-like receptors (KIR)...
  62. Hundhausen C, Bertoni A, Mak R, Botti E, Di Meglio P, Clop A, et al. Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis. J Invest Dermatol. 2012;132:635-41 pubmed publisher
    ..These data pave the way for functional studies into the pathogenic role of the major psoriasis susceptibility allele. ..
  63. 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. ..
  64. 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. ..
  65. 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. ..
  66. Huffmeier U, Lascorz J, Böhm B, Lohmann J, Wendler J, Mossner R, et al. Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol. 2009;129:355-8 pubmed publisher
    ..controls before and after stratification for the major psoriasis risk allele at psoriasis susceptibility locus 1 (PSORS1)...
  67. Jiao Y, Zhang B, You L, Li J, Zhang J, Ma C, et al. Polymorphisms of KIR gene and HLA-C alleles: possible association with susceptibility to HLA-B27-positive patients with ankylosing spondylitis. J Clin Immunol. 2010;30:840-4 pubmed publisher
  68. Suppiah V, Gaudieri S, Armstrong N, O Connor K, Berg T, Weltman M, et al. IL28B, HLA-C, and KIR variants additively predict response to therapy in chronic hepatitis C virus infection in a European Cohort: a cross-sectional study. PLoS Med. 2011;8:e1001092 pubmed publisher
    ..Genotyping for IL28B, HLA-C, and KIR genes improves prediction of HCV treatment response. These findings support a role for natural killer (NK) cell activation in PegIFN/R treatment-induced clearance, partially mediated by IL28B. ..
  69. Ovsyannikova I, Ryan J, Vierkant R, O Byrne M, Pankratz V, Jacobson R, et al. Influence of host genetic variation on rubella-specific T cell cytokine responses following rubella vaccination. Vaccine. 2009;27:3359-66 pubmed publisher
  70. Lin Y, Wan L, Wu J, Sheu J, Lin C, Lan Y, et al. HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms. Arthritis Rheum. 2009;60:604-10 pubmed publisher
    ..The purpose of this study was to identify possible genetic variants in the major histocompatibility complex (MHC) region that are associated with KD and the development of coronary artery aneurysms (CAAs) in a Taiwanese ..