Polymorphism in Genes Encoding HSP40 Family Proteins is Associated with Ischemic Stroke Risk and Brain Infarct Size: A Pilot Study.

Background: Heat shock proteins (HSPs) play a critical role in the molecular mechanisms of ischemic stroke (IS). A possible role for HSP40 family proteins in atherosclerosis progression has already been revealed; however, to date, molecular genetic studies on the involvement of genes encoding proteins of the HSP40 family in IS have not yet been carried out.

Aim: We sought to determine whether nine single nucleotide polymorphisms (SNPs) in genes encoding HSP40 family proteins (, , , , and ) are associated with the risk and clinical features of IS.

Polymorphisms of ANPEP Gene Are Associated with Microvascular Complications of Type 2 Diabetes.

We studied the association of polymorphisms in the aminopeptidase N gene (ANPEP) with the development of diabetic retinopathy and nephropathy in patients with type 2 diabetes mellitus (T2DM). DNA samples from T2DM patients (n=1425) were genotyped for 23 single nucleotide polymorphisms (SNPs) using the MassARRAY system. Associations of SNP rs13380049 of the ANPEP gene with a lower risk of diabetic retinopathy (OR=0.

Association of the Genotype of TNFα with the Efficiency of the Intensive Phase of Chemotherapy and Formation of the Sizes of Destruction Cavities in Patients with Pulmonary Tuberculosis.

The interrelation between the TNFα gene polymorphism and the effectiveness of the intensive phase of chemotherapy in patients with pulmonary tuberculosis, as well as the formation of diameter of the sizes of destruction cavities was studied. It was revealed that the most adverse course of the disease and a high frequency of formation of destruction cavities are associated with the GG genotype of the TNFα gene.

NADPH oxidase 5 is a novel susceptibility gene for type 2 diabetes mellitus.

Objective: This pilot study investigated whether single nucleotide polymorphisms (SNP) in the NOX5 gene (NADPH oxidase 5) are associated with the type 2 diabetes (T2D) risk.

Subjects And Methods: A total of 1579 patients with T2D and 1627 age- and sex-matched healthy subjects were recruited for this study. Genotyping of common SNPs, namely rs35672233, rs3743093, rs2036343, rs311886, and rs438866, was performed using the MassArray-4 system.

The link between the ANPEP gene and type 2 diabetes mellitus may be mediated by the disruption of glutathione metabolism and redox homeostasis.

Aminopeptidase N (ANPEP), a membrane-associated ectoenzyme, has been identified as a susceptibility gene for type 2 diabetes (T2D) by genome-wide association and transcriptome studies; however, the mechanisms by which this gene contributes to disease pathogenesis remain unclear. The aim of this study was to determine the comprehensive contribution of ANPEP polymorphisms to T2D risk and annotate the underlying mechanisms. A total of 3206 unrelated individuals including 1579 T2D patients and 1627 controls were recruited for the study.