HLA I 类和 II 类基因：一型糖尿病易感性的关键因素

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-02-28 DOI:10.1016/j.genrep.2025.102183

Gaurang Telang , Smriti Mishra , Anurag Sureshbabu , Sameer Chiloo , Shantanu Joshi , Senthil Thyagarajan

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HLA Class I and II genes: A key factor for type one diabetes susceptibility

Type 1 diabetes (T1D) is one of the most chronic autoimmune diseases categorized by pancreatic β-cell destruction. The susceptibility towards T1D is determined using a composite interface between numerous genetic and environmental factors. The clinical inception of T1D is led by the presence of autoantibodies in contrast to β-cells. The main genetic mechanism of T1D is associated with the Major histocompatibility complex (MHC) i.e., HLA genes and it has about 50 % inclination of genetic influence located on the short arm of chromosome 6p21 extends around 4000 kb, and holds over 200 genes. These are the key fragments of genetic risk factors of T1D. The genes encrypt HLA Class I and II which mediate the pathogenetically immune mechanism. Their main purpose is intrusion and inflammation in the pancreatic islets known as insulitis. The utmost links between disease and HLA loci are with Class II genes expressed in antigenic presenting cells and also play a great role in β-cell autoimmunity, tolerance, and autoreactive T-cell response. Other non-HLA genes are also involved in this development. T cells play an important role in the recognition of islet autoantigens along with the cytokines. Many in-vivo models also provide the genetic analysis that shows the presence of frequent chromosomal regions susceptible to T1D development. Recent advances in techniques like HLA genotyping, DNA typing, and next-generation sequencing expand the genetic element information with distinct prominence of therapeutic as well as treatment, and diagnosis approaches.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.