The Role of HLA Genes in Type 1 Diabetes Risk: A Genetic Study

This report examines the genetic risk factors associated with Type 1 Diabetes, an autoimmune disorder characterized by the destruction of insulin-producing pancreatic beta cells. The study emphasizes the crucial role of Human Leukocyte Antigen (HLA) genes, particularly those in the DR and DQ regions, in predisposing individuals to the disease. The report highlights the association between specific HLA alleles, such as DRB1*03-DQB1*02 and DRB1*04-DQB1*0302, and increased risk. It also discusses the use of Genome-Wide Association Studies (GWAS) and linkage analysis to identify both HLA and non-HLA genes, including INS, PTPN22, and CTLA-4, that contribute to the development and progression of Type 1 Diabetes. The report further mentions the identification of genetic markers for population screening and the significance of the insulin minisatellite (INS VNTR) in disease susceptibility. It concludes by underscoring the need for in-depth studies to understand the complex interplay of genes in the pathogenesis of Type 1 Diabetes, with the ultimate goal of finding effective treatments. The report includes figures illustrating the HLA region on chromosome 6 and a GWA study that supports the findings.

Running head: GENETICS
GENETICS
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2GENETICS
The risk of developing type 1 diabetes is increased by certain variants of the HLA genes.
Conclusion
Type I diabetes is stated to be one of most commonly studied and complex genetic
disease that has an association with the gene in the HLA that accounts for 40% to 50% of the
familial aggregation in the illness. It was found that the genetic determinants of the disorder
involve the polymorphisms of class II HLA genes that are responsible for coding DQ and
DR. The use of GWAS and genome extensive linkage analysis have been recently used
where it was found that HLA gene complex, as well as non-HLA genes including INS,
PTPN22 and CTLA-4, are in conjunction with the development and progress of Type I
diabetes. Ten genetic markers have been identified in the study that would help in general
population screening where typing was done with two or more SNPs from the HLA regions
and nine SNPs from other genes. The use of insulin minisatellite (INS VNTR) are associated
with susceptibility of a number of disorders due to its association with a wide range of
phenotypes. Thus, it can be stated that the association of type I diabetes and HLA genes
required in-depth studies that may help in disease understanding and development of a cure
for the life-threatening disease.

3GENETICS
This figure is depicting two possibilities that may occur in the pancreas. The insulin is
produced in the pancreas, islet of Langerhans that contain beta cells and blood vessel. In
some condition, the beta cells are destroyed as a result; the cells are faults and thus, causes
Type I diabetes.
This figure shows the HLA region on chromosome number 6 and it can be observed
that the type I diabetes is associated with haplotypes that include DRB1*03-DQB1*02 and
DRB1*04-DQB1*0302.

4GENETICS
This figure shows a genome-wide association (GWA) study that has been able to offer
pace to the studies related to the discovery of Type I diabetes. In the y-axis, the best estimate
of the OR risk alleles is shown that demonstrates loci. This report the genomic region where
the convincing association with the disorder have been found.

5GENETICS