Basic information of TOR1A :
| Official Symbol of Gene | TOR1A |
| Species | Homo sapiens |
| Entrez Gene ID | 1861 |
| Official Full Name | torsin family 1 member A |
| Also known as | DQ2; AMC5; DYT1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000136827 MIM:605204; AllianceGenome:HGNC:3098 |
| Map Location | 9q34.11 |
| Variation Type | SNP |
| refSNP ID | rs4639334 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | European |
| Sample Size | 330 unrelated CD patients |
Literature information of multiple sclerosis :
| Pubmed ID | 18509540 |
| Year | 2008 |
| Title | Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Our results show that this tag SNP method is very accurate and provides an excellent basis for population screening for CD |
| Result | Tag SNPs were selected that captured the following HLA types: DQ2.2 (2 SNPs for DQ2.2 and one SNP to exclude DQ4 from the DQ2.2 group), DQ2.5 (1 SNP), DQ7 (1 SNP), and DQ8 (1 SNP) (see Table 3). DQ2.5 and DQ8 are risk factors for CD and are carried by ,95% of CD patients [4,22]. The HLA-DQA1*0505 allele of DQ7 and HLA-DQA1*0501 allele of DQ2.5 only differ by one or a few base pairs and are thought to have the same functional properties. This also holds for the HLA-DQB1*0202 allele of DQ2.2 and the HLA-DQB1*0201 allele of DQ2.5. Most of the CD patients who do not carry DQ2.5 or DQ8, carry half of the DQ2.5 or DQ2.2 molecule (that is either HLA-DQA1*05 or DQB1*0202) suggesting that carrying part of the risk molecules has functional implications for the risk of CD |
| Mechanism/Pathway | The HLA genes, located in the MHC region on chromosome 6p21.3, play an important role in many autoimmune disorders, such as celiac disease (CD), type 1 diabetes (T1D), rheumatoid arthritis, multiple sclerosis, psoriasis and others. Known HLA variants that confer risk to CD, for example, include DQA1*05/DQB1*02 (DQ2.5) and DQA1*03/ DQB1*0302 (DQ8). To diagnose the majority of CD patients and to study disease susceptibility and progression, typing these strongly associated HLA risk factors is of utmost importance. |
