ABSTRACT
We studied the relationship between the HSPA5 gene polymorphisms and the risk of type 2 diabetes mellitus. Genotyping of three SNPs of the HSPA5 gene was performed in 1579 patients with type 2 diabetes mellitus and 1650 healthy individuals. It was found that the genotypes rs55736103-T/T, rs12009-G/G, and rs391957-T/C-T/T are associated with increased risk of type 2 diabetes in females. A rare haplotype, rs55736103C-rs12009A-rs391957T HSPA5, associated with a reduced risk of type 2 diabetes in females was found. Associations between polymorphisms of the HSPA5 gene encoding heat shock protein and the risk of type 2 diabetes mellitus were established for the first time.
Subject(s)
Diabetes Mellitus, Type 2 , Endoplasmic Reticulum Chaperone BiP , Genetic Predisposition to Disease , Heat-Shock Proteins , Polymorphism, Single Nucleotide , Humans , Diabetes Mellitus, Type 2/genetics , Female , Polymorphism, Single Nucleotide/genetics , Male , Middle Aged , Genetic Predisposition to Disease/genetics , Heat-Shock Proteins/genetics , Case-Control Studies , Haplotypes/genetics , Gene Frequency/genetics , Aged , Genotype , Risk Factors , AdultABSTRACT
Acute myeloid leukemia (AML) is a hematologic malignancy with great variability in the pathogenesis, clinical features and treatment outcomes. Advances in molecular research have greatly improved our understanding of the leukemogenesis in AML. In addition to the conventional risk factors molecular genetic alterations, such as mutations of NPM1, CEBPA, c-KIT, AML1/RUNX1, WT1, FLT3 and others, are also important prognostic factors in AML patients. Risk-adapted treatment may not only improve the prognosis, but also reduce the toxicity from the chemotherapy in patients with AML.