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 | rs2395182, |
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 | At first the sensitivity and specificity for DQ2.2 was high and accurate but the predictive value was low. The SNPs for DQ2.2 (rs2395182, rs7775228) not only tagged DQ2.2 but also included the relatively infrequent DQ4 allele. We therefore decided to tag DQ4 as well (rs4713586) making it possible to call a person DQ2.2 when the alleles were positive for DQ2.2 and negative for DQ4 |
| 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. |
