HLA_DR1 (empty)
- Known as:
- HLA_DR1 (empty)
- Catalog number:
- 11-435-C025
- Product Quantity:
- 0.025 mg
- Category:
- -
- Supplier:
- Exbio
- Gene target:
- HLA_DR1 (empty)
Related products to: HLA_DR1 (empty)
Related articles to: HLA_DR1 (empty)
- The HLA-DR region of the MHC, spanning HLA-DRB1 to HLA-DRA, is currently characterised by five unique haplotypes (named DR1, DR51, DR52, DR53 and DR8). All haplotypes have HLA-DRB1, HLA-DRB9 and HLA-DRA. The DR1 haplotype also has HLA-DRB6, the DR52 haplotype, HLA-DRB3 and HLA-DRB2, and DR53 also has HLA-DRB4, HLA-DRB7 and HLA-DRB8. The DR8 haplotype has no additional loci. HLA-DRB3, HLA-DRB4 and HLA-DRB5 are expressed genes, and HLA-DRB2, HLA-DRB6, HLA-DRB7 and HLA-DRB8 are pseudogenes. Whilst the genetic content of each haplotype is known, a detailed genomic comparison of these haplotypes has not been reported. To address this issue, we have performed multi-sequence alignments of the complete HLA-DRA to HLA-DRB1 region on 94 phased genome assemblies from the Pangenome Project. Our analysis reveals extensive structural variation and significant size differences between haplotypes characterised by large insertions and deletions. We also describe two new pseudogenes, locally named HLA-DRBTF1 and HLA-DRBTF2. HLA-DRBTF1 was present on DR1 and DR53 haplotypes, and HLA-DRBTF2 was found on all haplotypes with haplotype-specific short and long variants. Our analysis enables us to propose an updated, simplified map of the HLA-DR region, demonstrating the comparative arrangement of genes and pseudogenes between HLA-DR haplotypes. - Source: PubMed
Alexandrov NickolaiBlair LindleyWang TingLowe DaveSayer David C - Primary antiphospholipid syndrome (PAPS) is a rare autoimmune disease characterized by the presence of antiphospholipid antibodies and the occurrence of thrombotic events and pregnancy complications. Our study aimed to identify novel genetic susceptibility loci associated with PAPS. - Source: PubMed
Publication date: 2024/08/11
Casares-Marfil DesiréMartínez-Bueno ManuelBorghi Maria OriettaPons-Estel Guillermo Reales GuillermoZuo YuEspinosa GerardRadstake Timothyvan den Hoogen Lucas LWallace ChrisGuthridge JoelJames Judith ACervera RicardMeroni Pier LuigiMartin JavierKnight Jason SAlarcón-Riquelme Marta ESawalha Amr H - Primary antiphospholipid syndrome (PAPS) is a rare autoimmune disease characterized by the presence of antiphospholipid antibodies and the occurrence of thrombotic events and pregnancy complications. Our study aimed to identify novel genetic susceptibility loci associated with PAPS. - Source: PubMed
Publication date: 2023/12/05
Casares-Marfil DesiréMartínez-Bueno ManuelBorghi Maria OriettaPons-Estel Guillermo Reales GuillermoZuo YuEspinosa GerardRadstake Timothyvan den Hoogen Lucas LWallace ChrisGuthridge JoelJames Judith ACervera RicardMeroni Pier LuigiMartin JavierKnight Jason SAlarcón-Riquelme Marta ESawalha Amr H - Genome-wide association studies have identified >100 genetic risk factors for rheumatoid arthritis. However, the reported genetic variants could only explain less than 40% heritability of rheumatoid arthritis. The majority of the heritability is still missing and needs to be identified with more studies with different approaches and populations. In order to identify novel function SNPs to explain missing heritability and reveal novel mechanism pathogenesis of rheumatoid arthritis, 4 HLA SNPs (, , and ) and 225 common SNPs located in miRNA, which might influence the miRNA target binding or pre-miRNA stability, were genotyped in 1,607 rheumatoid arthritis and 1,580 matched normal individuals. We identified 2 novel SNPs as significantly associated with rheumatoid arthritis including rs1414273 (, OR = 0.84, = 8.26 × 10) and rs2620381 ( OR = 0.77, = 2.55 × 10). We also identified that rs5997893 () showed significant epistasis effect with rs4947332 (, OR = 4.23, = 0.04) and rs2967897 (miR-5695) with rs7752903 (, OR = 4.43, = 0.03). In addition, we found that individuals who carried 8 risk alleles showed 15.38 (95%CI: 4.69-50.49, < 1.0 × 10) times more risk of being affected by RA. Finally, we demonstrated that the targets of the significant miRNAs showed enrichment in immune related genes ( = 2.0 × 10) and FDA approved drug target genes ( = 0.014). Overall, 6 novel miRNA SNPs including rs1414273 (, = 8.26 × 10), rs2620381 (, = 2.55 × 10), rs4285314 (miR-3135b, = 1.10 × 10), rs28477407 (miR-4308, = 3.44 × 10), rs5997893 (, = 5.9 × 10) and rs45596840 (, = 6.6 × 10) were confirmed to be significantly associated with RA in a Chinese population. Our study suggests that miRNAs might be interesting targets to accelerate understanding of the pathogenesis and drug development for rheumatoid arthritis. - Source: PubMed
Publication date: 2021/10/29
Guo ShichengJin YehuaZhou JieruZhu QiJiang TingBian YanqinZhang RunrunChang CenXu LingxiaShen JieZheng XinchunShen YiQin YingyingChen JihongTang XiaorongCheng PengDing QinZhang YuanyuanLiu JiaCheng QingqingGuo MengruLiu ZhaoyiQiu WeifangQian YiSun YangShen YuNie HongSchrodi Steven JHe Dongyi - The DRB subregion of the HLA complex contains, in addition to the functional genes, a number of pseudogenes and gene fragments. Fourteen kilobases of DNA were sequenced from the segment upstream of the DRB9 gene fragment, as well as shorter segments from different HLA and corresponding ape haplotypes. The analysis of the sequences and restriction fragments indicates that the segment is a remnant of an ancient DRB subregion which may have been functional before the primate radiation and which later became the source of extant functional DRB genes in various primate groups, different ones in different groups. The remnant segment has remained constant in its organization for at least 4 million years. This constancy contrasts with the variability of the adjacent functional part of the DRB subregion occupied by the DRB1 and other loci. The constancy may be related to the monomorphism and evolutionary conservation of the DRA locus. - Source: PubMed
Gongora RFigueroa FO'Huigin CKlein J