Ignet

Gene Information

Gene symbol: TOR1A

Gene name: torsin family 1, member A (torsin A)

HGNC ID: 3098

Synonyms: DQ2

Related Genes

#	Gene Symbol	Number of hits
1	C4B	1 hits
2	CLIP1	1 hits
3	CRP	1 hits
4	CXCL10	1 hits
5	GAD2	1 hits
6	HLA-DQA1	1 hits
7	IDDM2	1 hits
8	IFNG	1 hits
9	INS	1 hits
10	PTPRN	1 hits
11	TNFRSF10A	1 hits
12	TNFRSF25	1 hits
13	TOR1B	1 hits

Related Sentences

#	PMID	Sentence
1	1356098	The major histocompatibility complex (MHC) contains multiple and diverse genes which may be relevant to the induction and regulation of autoimmune responses in insulin dependent diabetes mellitus (IDDM).
2	1356098	In addition to HLA class I and II, the possible candidates include TNF, C4, and several other poorly defined polymorphic genes in the central MHC region.
3	1356098	This study describes two approaches which take advantage of the fact that the relevant genes are carried by highly conserved ancestral haplotypes such as 8.1 (HLA-B8, TNFS, C4AQ0, C4B1, DR3, DQ2).
4	1356098	Third, using haplotypic polymorphisms such as the one in BAT3, we have shown that all the patients carrying recombinants of the 8.1 ancestral haplotype share the central region adjacent to HLA-B.
5	1356098	These findings suggest that both HLA and non-HLA genes are involved in conferring susceptibility to IDDM, and that the region between HLA-B and BAT3 contains some of the relevant genes.
6	7817375	Analysis of antibody markers, DRB1, DRB5, DQA1 and DQB1 genes and modeling of DR2 molecules in DR2-positive patients with insulin-dependent diabetes mellitus.
7	7817375	HLA-DR2 is negatively associated with insulin-dependent diabetes mellitus (IDDM).
8	7817375	The second haplotype was DR3 DQ2 in 6/11 and DR4 DQ8 in 2/11 DR2-positive patients.
9	8186196	DQ2 and DR3 molecules bound to different sets of peptides.
10	8186196	However, the peptide binding to DQ2 and DR3 showed, in general, similar characteristics with respect to pH dependence and kinetic parameters, indicating that the overall rules for peptide binding to DQ molecules are the same as those previously shown for human DR and murine I-A and I-E molecules.
11	8186196	DQ2 and DR3 molecules bound to different sets of peptides.
12	8186196	However, the peptide binding to DQ2 and DR3 showed, in general, similar characteristics with respect to pH dependence and kinetic parameters, indicating that the overall rules for peptide binding to DQ molecules are the same as those previously shown for human DR and murine I-A and I-E molecules.
13	8921967	To identify the binding motifs of peptides which bind to the celiac disease and insulin-dependent-diabetes-mellitus (IDDM)-associated DQ2 molecule, peptides were eluted from affinity-purified DQ2 molecules.
14	8948898	The serological findings of HLA antigens showed a significant association of DR3, DR4, DQ2 and DQ8 and a protective effect of DR11, DR15, DQ5, DQ6 and DQ7.
15	8948898	With these results, DNA analysis of HLA-DRB1, B3, B4, DQA1, DQB1, DPA1, DPB1 genes was performed using PCR with allele specific oligotyping.
16	8948898	Positions 57 and 74 of DRB1 locus contribute highly to the expression and severity of IDDM in Mestizos and other ethnic groups, but not in Caucasians or Blacks.
17	9127142	Interestingly, DQ alleles with which these DR alleles are in linkage dysequilibrium, DQ1 and DQ2 and 3, were also associated with high and low IFN-gamma production, respectively.
18	9127142	TNF-alpha production was significantly higher in DR3-positive than in DR3-negative subjects, in accord with previous studies.
19	9127142	The finding of HLA allele-related polymorphism of IFN-gamma production corroborates other lines of evidence that regulation of IFN-gamma expression contributes to HLA-associated susceptibility to immunoinflammatory diseases, in particular insulin-dependent diabetes and multiple sclerosis.
20	10319267	This review concerns the 8.1 AH (HLA-A1, C7, B8, C4AQ0, C4B1, DR3, DQ2), which is carried by most Caucasians with HLA-B8.
21	10319267	It is associated with accelerated human immunodeficiency virus (HIV) disease, and susceptibility to insulin-dependent diabetes mellitus (IDDM), systemic lupus erythematosus, dermatitis herpetiformis, common variable immunodeficiency and IgA deficiency, myasthenia gravis and several other conditions.
22	10319267	We have mapped susceptibility genes for HIV, IDDM and myasthenia gravis to the central MHC between HLA-B and the tumour necrosis factor or complement genes.
23	10458326	Patients with insulin-dependent diabetes mellitus (IDDM), non-insulin-dependent diabetes mellitus (NIDDM) and malnutrition-related diabetes mellitus (MRDM), which is subdivided into protein-deficient diabetes mellitus (PDDM) and fibrocalculous pancreatic diabetes (FCPD), were studied and their associations with autoantibody markers.
24	10458326	IDDM and PDDM were associated with DR3 and DQ2 but not DR4 and DQ8.
25	10522814	Genetic susceptibility to type 1 diabetes: clinical and molecular heterogeneity of IDDM1 and IDDM12 in a german population.
26	10522814	We analysed the transmission of HLA DQA1, DQB1, DRB1*04 alleles as well as an endogenous retroviral element (DQLTR3) in 130 families with a type 1 diabetic offspring in order to evaluate their role in genetic susceptibility to IDDM.
27	10522814	By transmission distortion test we confirm the linkage of HLA DQA10501 DQB10201 (DR3 DQ2) as well as DQA10301 DQB10302 (DR4 DQ8) with IDDM.
28	10902788	Eight relatives of 478 (1.7% of SOC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
29	10902788	In contrast, 28 relatives (5.9%) had persistent antiislet autoantibodies, and 14 (50%) were DR3/4(DQ2/8) heterozygotes.
30	10902788	Thirteen children of 793 (1.6% of NEC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
31	10902788	Seven of the NEC (0.9%) had persistent antiislet autoantibodies, and 4 (57.1%) were DR3/4(DQ2/8) heterozygous.
32	10902788	In contrast, the expression of transient antiislet autoantibodies did not differ by family history of diabetes, and none of the DR3/4(DQ2/8) relatives and DR3/4(DQ2/8) newborns expressed transient autoantibodies.
33	10902788	Eight relatives of 478 (1.7% of SOC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
34	10902788	In contrast, 28 relatives (5.9%) had persistent antiislet autoantibodies, and 14 (50%) were DR3/4(DQ2/8) heterozygotes.
35	10902788	Thirteen children of 793 (1.6% of NEC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
36	10902788	Seven of the NEC (0.9%) had persistent antiislet autoantibodies, and 4 (57.1%) were DR3/4(DQ2/8) heterozygous.
37	10902788	In contrast, the expression of transient antiislet autoantibodies did not differ by family history of diabetes, and none of the DR3/4(DQ2/8) relatives and DR3/4(DQ2/8) newborns expressed transient autoantibodies.
38	10902788	Eight relatives of 478 (1.7% of SOC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
39	10902788	In contrast, 28 relatives (5.9%) had persistent antiislet autoantibodies, and 14 (50%) were DR3/4(DQ2/8) heterozygotes.
40	10902788	Thirteen children of 793 (1.6% of NEC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
41	10902788	Seven of the NEC (0.9%) had persistent antiislet autoantibodies, and 4 (57.1%) were DR3/4(DQ2/8) heterozygous.
42	10902788	In contrast, the expression of transient antiislet autoantibodies did not differ by family history of diabetes, and none of the DR3/4(DQ2/8) relatives and DR3/4(DQ2/8) newborns expressed transient autoantibodies.
43	10902788	Eight relatives of 478 (1.7% of SOC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
44	10902788	In contrast, 28 relatives (5.9%) had persistent antiislet autoantibodies, and 14 (50%) were DR3/4(DQ2/8) heterozygotes.
45	10902788	Thirteen children of 793 (1.6% of NEC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
46	10902788	Seven of the NEC (0.9%) had persistent antiislet autoantibodies, and 4 (57.1%) were DR3/4(DQ2/8) heterozygous.
47	10902788	In contrast, the expression of transient antiislet autoantibodies did not differ by family history of diabetes, and none of the DR3/4(DQ2/8) relatives and DR3/4(DQ2/8) newborns expressed transient autoantibodies.
48	10902788	Eight relatives of 478 (1.7% of SOC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
49	10902788	In contrast, 28 relatives (5.9%) had persistent antiislet autoantibodies, and 14 (50%) were DR3/4(DQ2/8) heterozygotes.
50	10902788	Thirteen children of 793 (1.6% of NEC) expressed a transient autoantibody, and none had the high risk genotype DR3/4(DQ2/8).
51	10902788	Seven of the NEC (0.9%) had persistent antiislet autoantibodies, and 4 (57.1%) were DR3/4(DQ2/8) heterozygous.
52	10902788	In contrast, the expression of transient antiislet autoantibodies did not differ by family history of diabetes, and none of the DR3/4(DQ2/8) relatives and DR3/4(DQ2/8) newborns expressed transient autoantibodies.
53	11770176	The occurrence of the haplotypes HLA DQ2/DR3 and/or DQ8/DR4 was observed in two thirds of type 1 diabetic and LADA patients.
54	12021131	Among 3756 newborns born in southeast Sweden we have found the high-risk genotype DQ2/DR3-DO8/DR4 to be present in 1%, haplotype DQ8/DR4 in 7.8%, and haplotype DQ2/DR3 in 9.6%.
55	12021131	DQ2/DR3 or DQ8/DR4 was carried by 16.4% of newborns; the low-risk DQ6 molecule was carried by newborns as follows: DQ2/DR3-DQ6/DR15, 1.3%; DQ8/DR4-DQ6/DR15, 1.3%; and DQ6/DR15, 9.4%.
56	12021131	Among 3756 newborns born in southeast Sweden we have found the high-risk genotype DQ2/DR3-DO8/DR4 to be present in 1%, haplotype DQ8/DR4 in 7.8%, and haplotype DQ2/DR3 in 9.6%.
57	12021131	DQ2/DR3 or DQ8/DR4 was carried by 16.4% of newborns; the low-risk DQ6 molecule was carried by newborns as follows: DQ2/DR3-DQ6/DR15, 1.3%; DQ8/DR4-DQ6/DR15, 1.3%; and DQ6/DR15, 9.4%.
58	12021135	Associations of HLA-DR3/DQ2 with GAD65 and DR4 with IA-2 antibodies in insulin-dependent diabetes mellitus (IDDM) and DR3/DQ2 with GAD65 antibodies in latent autoimmune diabetes in adult (LADA) patients are known.
59	12021135	The aim of the present study was to look for association of HLA DR and DQ with GAD65, IA2 and ICA12 antibodies in IDDM (n = 97), LADA (n = 32), and malnutrition-modulated diabetes mellitus (MMDM) (n = 22) patients from northern India.
60	12021135	Antibodies to GAD65, IA-2, and ICA-12 were assayed by radioimmunoassay using (35)S-labeled recombinant human GAD65, IA2, and ICA12 using the in vitro transcription-translation method.
61	12021135	We found DR3 (29% vs. 11%) and DQ2 (36% vs. 14%) were increased in GAD65 antibody-positive compared to GAD65 antibody-negative IDDM patients (P > 0.05).
62	12021135	ICA 12 antibodies were increased in either DR3 or DR4 (84% vs. 69%) positives compared to non-DR3/DR4 IDDM patients (P > 0.05).
63	12021135	However in LADA patients, ICA12 was increased in non-DR3/DR4 patients compared to DR3- or DR4-positive patients (P < 0.05).
64	12021139	Patients with type 1 diabetes had significantly higher frequency of DR3, DQ2, DR4, and DQ8 alleles when compared to healthy controls.
65	12021139	No significant difference was observed in frequency of DR3 between ABO blood group incompatibility and type 1 diabetes patients.
66	12021140	Microsatellite allele 5 of MHC class I chain-related gene a increases the risk for insulin-dependent diabetes mellitus in latvians.
67	12021140	Insulin-dependent diabetes mellitus (IDDM) is one of the most common chronic diseases.
68	12021140	HLA-DQ8/DR4 and DQ2/DR3 are positively associated with IDDM and DQ6 is negatively associated with IDDM in most Caucasian populations.
69	12021140	The MICA gene is located in the MHC class I region and is expressed by monocytes, keratinocytes, and endothelial cells.
70	12021140	Analysis of allele distribution among 93 Latvian IDDM patients and 108 healthy controls showed that allele A5 of MICA is significantly increased in IDDM patients [33/93 (35%)] compared to healthy controls [22/108 (20%)] (OR = 2.15; P = 0.016).
71	12021140	In conclusion, we believe that MICA may play an important role in the etiopathogenesis of IDDM.
72	12021142	Tumor necrosis factor-alpha allele 2 shows an association with insulin-dependent diabetes mellitus in Latvians.
73	12021142	Insulin-dependent diabetes mellitus (IDDM) is one of the most common chronic diseases.
74	12021142	Genes contributing the most for development of IDDM are located on chromosome 6p21.3 in the region called the major histocompatibility complex (MHC).
75	12021142	HLA-DQ8/DR4 and DQ2/DR3 have shown positive association with IDDM, while DQ6 has negative association with IDDM in most Caucasian populations.
76	12021142	The location of the tumor necrosis factor alpha (TNF-alpha) gene in the MHC suggests the role of TNF in the etiology of IDDM as an autoimmune disease.
77	12021142	Ninety-two Latvian IDDM patients corresponding to WHO diagnostic criteria and 107 unrelated age- and sex-matched healthy controls were analyzed for the frequency of TNF-alpha alleles to test the hypothesis that TNF-alpha is associated with IDDM.
78	12021142	We found that TNF-alpha microsatellite allele 2 is associated with IDDM, 29/92 (32%), versus 14/107 (13%) in healthy controls.
79	12021142	The test of the strongest association of the MICA A5 allele and TNF-alpha allele 2 with IDDM showed that both are independently associated with the disease.
80	15570995	At this time, C-peptide levels were low, antiGAD and AIA were positive with HLA DR3/DQ2 haplotype.
81	16236123	Particular interest has focused on the CVB4 non-structural protein P2C, which we previously showed to be a major target of the effector memory anti-CVB4 CD4 T-cell response, and which harbours a region of sequence similarity with the islet autoantigen, glutamic acid decarboxylase (GAD65).
82	16236123	In the present study therefore we examined the affinity of 20-mer overlapping P2C peptides for soluble HLA-DR4, -DR3, -DQ2 and -DQ8.
83	16236123	DR4 and DQ8, P =0.0076; DR3 and DQ2 P = 0.002).
84	16236123	Particular interest has focused on the CVB4 non-structural protein P2C, which we previously showed to be a major target of the effector memory anti-CVB4 CD4 T-cell response, and which harbours a region of sequence similarity with the islet autoantigen, glutamic acid decarboxylase (GAD65).
85	16236123	In the present study therefore we examined the affinity of 20-mer overlapping P2C peptides for soluble HLA-DR4, -DR3, -DQ2 and -DQ8.
86	16236123	DR4 and DQ8, P =0.0076; DR3 and DQ2 P = 0.002).
87	17714036	HLA DQA10501 and DQA10501-DQB1*0201 (DQ2) were significantly overtransmitted from the parents to the affected offspring (204 vs. 131, p = 0.0057, pc = 0.0228 and 109 vs. 55, p = 0.0036, pc = 0.0144, respectively).
88	17714036	We conclude, that HLA DQA10501 and DQA10501-DQB1*0201 (DQ2) are strongly associated with Graves' disease in both populations.
89	17714036	HLA DQA10501 and DQA10501-DQB1*0201 (DQ2) were significantly overtransmitted from the parents to the affected offspring (204 vs. 131, p = 0.0057, pc = 0.0228 and 109 vs. 55, p = 0.0036, pc = 0.0144, respectively).
90	17714036	We conclude, that HLA DQA10501 and DQA10501-DQB1*0201 (DQ2) are strongly associated with Graves' disease in both populations.
91	17728790	The association signals map to a 350-kb interval, thus implicating primary effects for DR3 and DQ2.
92	17906106	When patients were further categorized in relation to CRP (cut-off value, 1 mg/l), BA-FMD was significantly lower (3%, P < 0.01), whereas LDL-to-HDL ratio increased further (2.2, P < 0.001) in the subgroup of DQ2/8 and CRP > or = 1 patients compared with the remaining three subgroups.
93	19410617	A combination of a case (n = 447)-control (n = 300) and family (n = 221) analysis was performed to investigate the role of the CXCL9 (rs10336, rs3733236) and CXCL10 (rs3921, rs35795399 and rs8878) polymorphisms and their interaction with HLA high-risk haplotypes DQ2(DQA0501-DQB0201)-DQ8(DQA0301-DQB0302) in T1D.
94	19410617	Although we did not find an association of the CXCL9 and CXCL10 polymorphisms with type 1 diabetes in the German population, we cannot discard their role in other populations or other autoimmune diseases.
95	21775680	HLA-DM (DM) catalyzes CLIP release, stabilizes MHC class II molecules, and edits the peptide repertoire presented by class II.
96	21775680	The effects of mutations were investigated by measuring the peptide dissociation and exchange rate in vitro, CLIP and DQ2 expression on the cell surface, and the presentation of α-II-gliadin epitope (residues 62-70) to murine, DQ2-restricted T cell hybridomas.