Genomes and Genes
Gene Symbol: HLA DQA1
Description: major histocompatibility complex, class II, DQ alpha 1
Alias: CELIAC1, DQ-A1, HLA-DQA, HLA class II histocompatibility antigen, DQ alpha 1 chain, DC-1 alpha chain, DC-alpha, HLA-DCA, MHC HLA-DQ alpha, MHC class II DQA1, MHC class II HLA-DQ-alpha-1
Products: HLA DQA1
- Ayed K, Gorgi Y, Ayed Jendoubi S, Bardi R. The involvement of HLA -DRB1*, DQA1*, DQB1* and complement C4A loci in diagnosing systemic lupus erythematosus among Tunisians. Ann Saudi Med. 2004;24:31-5 pubmed..In contrast to other ethnic groups, MHC class II alleles are not associated with the presence of specific autoantibodies in Tunisian SLE patients. ..
- Murray J, Moore S, Van Dyke C, Lahr B, Dierkhising R, Zinsmeister A, et al. HLA DQ gene dosage and risk and severity of celiac disease. Clin Gastroenterol Hepatol. 2007;5:1406-12 pubmed..Assessing the copy number of the DQB1*02 allele might allow for the stratification of disease risk. ..
- Bourgey M, Calcagno G, Tinto N, Gennarelli D, Margaritte Jeannin P, Greco L, et al. HLA related genetic risk for coeliac disease. Gut. 2007;56:1054-9 pubmed..An antenatal estimate of the order of risk of CD is now possible. Specific follow-up can thus be offered for babies at high risk. ..
- Trachtenberg E, Vinson M, Hayes E, Hsu Y, Houtchens K, Erlich H, et al. HLA class I (A, B, C) and class II (DRB1, DQA1, DQB1, DPB1) alleles and haplotypes in the Han from southern China. Tissue Antigens. 2007;70:455-63 pubmed
- Hom G, Graham R, Modrek B, Taylor K, Ortmann W, Garnier S, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med. 2008;358:900-9 pubmed publisher..We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region. ..
- Alves Leon S, Papais Alvarenga R, Magalhaes M, Alvarenga M, Thuler L, Fernandez Y Fernandez O. Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients. Acta Neurol Scand. 2007;115:306-11 pubmed
- Mychaleckyj J, Noble J, Moonsamy P, Carlson J, Varney M, Post J, et al. HLA genotyping in the international Type 1 Diabetes Genetics Consortium. Clin Trials. 2010;7:S75-87 pubmed publisher..Many of the strategies used in this study are generally applicable to other large multi-center studies. ..
- Donaldson P, Baragiotta A, Heneghan M, Floreani A, Venturi C, Underhill J, et al. HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study. Hepatology. 2006;44:667-74 pubmed..042, OR=0.65 in the UK patients; and 10% versus 31%, P=.00092, OR=0.25 in the Italian patients). In conclusion, a complex relationship exists between HLA and PBC, and some genetic associations may be population specific. ..
- Stene L, Thorsby P, Berg J, Rønningen K, Undlien D, Joner G. The relation between size at birth and risk of type 1 diabetes is not influenced by adjustment for the insulin gene (-23HphI) polymorphism or HLA-DQ genotype. Diabetologia. 2006;49:2068-73 pubmed..In contrast to suggestions from previous indirect studies, direct adjustment for INS and HLA genotypes did not lead to a stronger relation between birthweight and the risk of type 1 diabetes. ..
- Kuranov A, Kozhamkulov U, Vavilov M, Belova E, Bismilda V, Alenova A, et al. HLA-class II alleles in patients with drug-resistant pulmonary tuberculosis in Kazakhstan. Tissue Antigens. 2014;83:106-12 pubmed publisher..We observed a possible association between certain HLA alleles and TB that are specific for the Kazakh population. Further studies are needed to confirm our findings using a larger number of patients with drug resistant tuberculosis. ..
- Wedderburn L, McHugh N, Chinoy H, Cooper R, Salway F, Ollier W, et al. HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlap. Rheumatology (Oxford). 2007;46:1786-91 pubmed..In the future, a combination of serological and genetic typing may allow for better prediction of clinical course and disease subtype in JDM. ..
- van Heel D, Franke L, Hunt K, Gwilliam R, Zhernakova A, Inouye M, et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet. 2007;39:827-9 pubmed..3 x 10(-14), odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease. ..
- Nakanishi K, Inoko H. Combination of HLA-A24, -DQA1*03, and -DR9 contributes to acute-onset and early complete beta-cell destruction in type 1 diabetes: longitudinal study of residual beta-cell function. Diabetes. 2006;55:1862-8 pubmed
- Arnett F, Gourh P, Shete S, Ahn C, Honey R, Agarwal S, et al. Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann Rheum Dis. 2010;69:822-7 pubmed publisher..These data indicate unique and multiple HLA-class II effects in SSc, especially on autoantibody markers of different subphenotypes. ..
- Chinoy H, Salway F, Fertig N, Shephard N, Tait B, Thomson W, et al. In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype. Arthritis Res Ther. 2006;8:R13 pubmed..In conclusion, these findings support the notion that myositis patients with differing myositis serology have different immunogenetic profiles, and that these profiles may define specific myositis subtypes. ..
- Zhang F, Huang W, Chen S, Sun L, Liu H, Li Y, et al. Genomewide association study of leprosy. N Engl J Med. 2009;361:2609-18 pubmed publisher..Variants of genes in the NOD2-mediated signaling pathway (which regulates the innate immune response) are associated with susceptibility to infection with M. leprae. ..
- Murao S, Makino H, Kaino Y, Konoue E, Ohashi J, Kida K, et al. Differences in the contribution of HLA-DR and -DQ haplotypes to susceptibility to adult- and childhood-onset type 1 diabetes in Japanese patients. Diabetes. 2004;53:2684-90 pubmed
- Wang J, Zhou Z, Lin J, Huang G, Zhang C, Yang L, et al. Islet autoantibodies are associated with HLA-DQ genotypes in Han Chinese patients with type 1 diabetes and their relatives. Tissue Antigens. 2007;70:369-75 pubmed..The findings in the study indicate that some of specific HLA-DQA1/-DQB1 genotypes and haplotypes not only confer susceptibility to T1D but also are associated with the presence of the islet autoantibodies in the Han Chinese population. ..
- Erlich H, Valdes A, Noble J, Carlson J, Varney M, Concannon P, et al. HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families. Diabetes. 2008;57:1084-92 pubmed publisher..These data also indicate that the risk associated with specific HLA haplotypes can be influenced by the genotype context and that the trans-complementing heterodimer encoded by DQA1*0501 and DQB1*0302 confers very high risk. ..
- Kugathasan S, Baldassano R, Bradfield J, Sleiman P, Imielinski M, Guthery S, et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet. 2008;40:1211-5 pubmed publisher..30 x 10(-8) and 6.95 x 10(-8), respectively; odds ratio (OR) = 0.74 for both) and 21q22 (rs2836878[A]; P = 6.01 x 10(-8); OR = 0.73), located close to the TNFRSF6B and PSMG1 genes, respectively. ..
- Britten A, Mijovic C, Barnett A, Kelly M. Differential expression of HLA-DQ alleles in peripheral blood mononuclear cells: alleles associated with susceptibility to and protection from autoimmune type 1 diabetes. Int J Immunogenet. 2009;36:47-57 pubmed publisher..The functional relevance of our findings and their implications for the pathogenesis of autoimmunity remain to be determined. ..
- Laine A, Hermann R, Knip M, Simell O, Akerblom H, Ilonen J. The human leukocyte antigen genotype has a modest effect on the insulin gene polymorphism-associated susceptibility to type 1 diabetes in the Finnish population. Tissue Antigens. 2004;63:72-4 pubmed
- Arnaiz Villena A, Martinez Laso J, Moscoso J, Livshits G, Zamora J, Gomez Casado E, et al. HLA genes in the Chuvashian population from European Russia: admixture of Central European and Mediterranean populations. Hum Biol. 2003;75:375-92 pubmed..Thus, present-day Chuvash who speak an Altaic-Turkic language are probably more closely related to ancient Mesopotamian-Hittites and northern European populations than to central Asia-Altaic people. ..
- Olivo Díaz A, Debaz H, Alaez C, Islas V, Pérez Pérez H, Hobart O, et al. Role of HLA class II alleles in susceptibility to and protection from localized cutaneous leishmaniasis. Hum Immunol. 2004;65:255-61 pubmed..DR2 (DRB1*1500+DRB1*1600) has also a significant p for protection, suggesting that the sequence common to this group of antigens may anchor parasite peptides which trigger a protective response. ..
- Uinuk Ool T, Takezaki N, Derbeneva O, Volodko N, Sukernik R. Variation of HLA class II genes in the Nganasan and Ket, two aboriginal Siberian populations. Eur J Immunogenet. 2004;31:43-51 pubmed
- Arnaiz Villena A, Dimitroski K, Pacho A, Moscoso J, Gomez Casado E, Silvera Redondo C, et al. HLA genes in Macedonians and the sub-Saharan origin of the Greeks. Tissue Antigens. 2001;57:118-27 pubmed..The time period when these relationships might have occurred was ancient but uncertain and might be related to the displacement of Egyptian-Ethiopian people living in pharaonic Egypt. ..
- Siebold C, Hansen B, Wyer J, Harlos K, Esnouf R, Svejgaard A, et al. Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsy. Proc Natl Acad Sci U S A. 2004;101:1999-2004 pubmed..In narcolepsy, the volume of the P4 pocket appears central to the susceptibility, suggesting that the presentation of a specific peptide population plays a major role. ..
- De la Concha E, Fernandez Arquero M, Gual L, Vigil P, Martinez A, Urcelay E, et al. MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. J Immunol. 2002;169:4637-43 pubmed
- Galeazzi M, Sebastiani G, Morozzi G, Carcassi C, Ferrara G, Scorza R, et al. HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical and autoantibody subsets. Medicine (Baltimore). 2002;81:169-78 pubmed
- Torn C, Gupta M, Nikitina Zake L, Sanjeevi C, Landin Olsson M. Heterozygosity for MICA5.0/MICA5.1 and HLA-DR3-DQ2/DR4-DQ8 are independent genetic risk factors for latent autoimmune diabetes in adults. Hum Immunol. 2003;64:902-9 pubmed..015-0.96). We concluded that both heterozygosity for MICA5.0/5.1 and HLA-DR3-DQ2/DR4-DQ8 are separate risk factors for LADA, but that heterozygosity for HLA-DR3-DQ2/DR4-DQ8 and DR4-DQ8 alone are most important for type 1 diabetes. ..
- Thomson W, Barrett J, Donn R, Pepper L, Kennedy L, Ollier W, et al. Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients. Rheumatology (Oxford). 2002;41:1183-9 pubmed..Although there are a number of common associations, each ILAR subgroup exhibits different patterns of HLA associations, suggesting that the ILAR classification system does define genetically distinct groups of patients. ..
- Todd J, Fukui Y, Kitagawa T, Sasazuki T. The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese. Proc Natl Acad Sci U S A. 1990;87:1094-8 pubmed..The high frequencies of Asp-57-encoding DQB1 alleles in this ethnic group may account for the rarity of type 1 diabetes in Japan. ..
- Hernández Pacheco G, Aguilar García J, Flores Dominguez C, Rodriguez Perez J, Perez Hernandez N, Alvarez Leon E, et al. MHC class II alleles in Mexican patients with rheumatic heart disease. Int J Cardiol. 2003;92:49-54 pubmed..HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients. ..
- Karell K, Louka A, Moodie S, Ascher H, Clot F, Greco L, et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum Immunol. 2003;64:469-77 pubmed..These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease, and the extreme rarity of celiac patients carrying neither the DQ2 or DQ8 heterodimers nor one half of the DQ2 heterodimer alone. ..
- Fernandez L, Fernandez Arquero M, Gual L, Lazaro F, Maluenda C, Polanco I, et al. Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease. Tissue Antigens. 2002;59:219-22 pubmed..1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele. ..
- Evseeva I, Spurkland A, Thorsby E, Smerdel A, Tranebjaerg L, Boldyreva M, et al. HLA profile of three ethnic groups living in the North-Western region of Russia. Tissue Antigens. 2002;59:38-43 pubmed..Genetic distances and correspondence analysis show that Pomors have a close relationship with Norwegians and Finns, whereas Nentsy and Saami are more closely related to Oriental populations. ..
- Cinek O, Kolouskova S, Snajderova M, Sumnik Z, Sedlakova P, Drevinek P, et al. HLA class II genetic association of type 1 diabetes mellitus in Czech children. Pediatr Diabetes. 2001;2:98-102 pubmed..Since none of the remaining DRB1*04 subtypes was associated with type 1 DM, our study may present another piece of evidence that the DRB1*0401 and DRB1*0404 alleles do not modify type 1 diabetes risk generally in European populations. ..
- Klitz W, Maiers M, Spellman S, Baxter Lowe L, Schmeckpeper B, Williams T, et al. New HLA haplotype frequency reference standards: high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans. Tissue Antigens. 2003;62:296-307 pubmed..Four DQA1-DQB1 haplotypes, all rare, are reported here for the first time. The haplotype frequency tables are suitable as a reference standard for HLA typing of the DR and DQ loci in European Americans. ..
- Marchini M, Antonioli R, Lleo A, Barili M, Caronni M, Origgi L, et al. HLA class II antigens associated with lupus nephritis in Italian SLE patients. Hum Immunol. 2003;64:462-8 pubmed..e., the most severe form of nephritis) is associated with the HLA-DR15 bearing haplotypes. ..
- Horiki T, Ichikawa Y, Moriuchi J, Hoshina Y, Yamada C, Wakabayashi T, et al. HLA class II haplotypes associated with pulmonary interstitial lesions of polymyositis/dermatomyositis in Japanese patients. Tissue Antigens. 2002;59:25-30 pubmed..0% vs 17.7%), and PM without PI (50.0% vs 5.5%). These results suggest that in terms of HLA class II association, Japanese DM and PM, and PM with and without PI, belong to different clinical groups. ..
- Uinuk ool T, Takezaki N, Sukernik R, Nagl S, Klein J. Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies. Hum Genet. 2002;110:209-26 pubmed..The divergence time of the two clusters is estimated to be 21,000-24,000 years BP. Three different branches of the native Siberian peoples seem to have contributed founders for the indigenous American ethnic groups. ..
- Sanchez Velasco P, Leyva Cobian F. The HLA class I and class II allele frequencies studied at the DNA level in the Svanetian population (Upper Caucasus) and their relationships to Western European populations. Tissue Antigens. 2001;58:223-33 pubmed..These observations suggest a mixture of alleles in Svans from geographically distinct areas, and probably do not support a common ancestor for these Caucasian inhabitants and people from Northern Spain. ..
- Rubilar J, Cruz R, ZuÃ±iga R, Khmelinskii I, Vieira M. Mathematical modeling of gallic acid release from chitosan films with grape seed extract and carvacrol. Int J Biol Macromol. 2017;104:197-203 pubmed publisher..This study will help with the development and optimization of active packaging (AP) films aiming at improved food preservation and shelf-life extension. ..
- Ozden F, Sakallioglu E, Sakallioglu U, Ayas B, Erisgin Z. Effects of grape seed extract on periodontal disease: an experimental study in rats. J Appl Oral Sci. 2017;25:121-129 pubmed publisher..05). TGF-ß was higher in the GEs of all groups (p<0.017). The results suggest anti-inflammatory activities of GSE, but further investigations are needed for clarification of these activities. ..
- Pecora A, Malacari D, Perez Aguirreburualde M, Bellido D, NuÃ±ez M, Dus Santos M, et al. Development of an APC-targeted multivalent E2-based vaccine against Bovine Viral Diarrhea Virus types 1 and 2. Vaccine. 2015;33:5163-71 pubmed publisher..Given these results, this multivalent vaccine holds promise for a safe and effective tool to control BVDV in herds. ..
- Barisani D, Ceroni S, Meneveri R, Cesana B, Bardella M. IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin. Genet Med. 2006;8:169-74 pubmed
- Aminkeng F, Weets I, van Autreve J, Koeleman B, Quartier E, Van Schravendijk C, et al. Association of IL-2RA/CD25 with type 1 diabetes in the Belgian population. Hum Immunol. 2010;71:1233-7 pubmed publisher..015). In conclusion, IL-2RA/CD25 is associated with type 1 diabetes in the Belgian population, independently of disease phenotype and other biologic markers. ..
- Jonson C, Hedman M, Karlsson Faresjö M, Casas R, Ilonen J, Ludvigsson J, et al. The association of CTLA-4 and HLA class II autoimmune risk genotype with regulatory T cell marker expression in 5-year-old children. Clin Exp Immunol. 2006;145:48-55 pubmed..002) and CD4+ CD25high (P = 0.002) cells expressing CTLA-4 were observed in children positive for HLA DQA1*0501-DQB1*0201 and DQA1*0301-DQB1*0302 (P = 0.04 for CD4+ and P = 0...
- Parapanissiou E, Papastavrou T, Deligiannidis A, Adam K, Kanakoudi F, Daniilidis M, et al. HLA antigens in Greek children with allergic bronchial asthma. Tissue Antigens. 2005;65:481-4 pubmed..The study of the HLA haplotypes failed to demonstrate any significant association between any extended or natural selection haplotype and mite allergic bronchial asthma in Greek children. ..
- Greer J, Pender M. The presence of glutamic acid at positions 71 or 74 in pocket 4 of the HLA-DRbeta1 chain is associated with the clinical course of multiple sclerosis. J Neurol Neurosurg Psychiatry. 2005;76:656-62 pubmed..Residues at these positions are important in the formation of pocket 4 in the antigen binding site of the HLA-DR molecule...
- Ng M, Lau K, Li L, Cheng S, Chan W, Hui P, et al. Association of human-leukocyte-antigen class I (B*0703) and class II (DRB1*0301) genotypes with susceptibility and resistance to the development of severe acute respiratory syndrome. J Infect Dis. 2004;190:515-8 pubmed..0%) in our SARS group was significantly higher (P=3x10(-9)) than that expected in the general population (0.4%). These genetic data will critically affect both the study of the pathogenesis of SARS and the design of vaccination programs. ..
- Tsertsvadze T, Sharvadze L, Dzigua L, Dolmazashvili E, Nelson K. Acute/recent HCV infection. Clinical course, viral replication kunetic and disease outcome. Georgian Med News. 2008;:43-9 pubmed..It remains unclear whether enigmatic form of disease--acute/recent HCV infection without further seroconversion exists or not. ..
- Xiao F, Zhou F, Liu J, Yan K, Cui Y, Gao M, et al. Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans. Arch Dermatol Res. 2005;297:201-9 pubmed..This study demonstrated the positive association of HLA-DQA1 and DQB1 alleles and haplotypes with AA. There may be differences in genetic background in patients with different duration. ..
- Stevens A, Kanaan S, Torok K, Medsger T, Mayes M, Reveille J, et al. Brief Report: HLA-DRB1, DQA1, and DQB1 in Juvenile-Onset Systemic Sclerosis. Arthritis Rheumatol. 2016;68:2772-2777 pubmed publisher..The greatest proportion of genetic risk of SSc is contributed by the HLA complex, and the current study reveals the importance of the association of HLA class II genes in juvenile-onset SSc. ..