Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography

<p>Abstract</p> <p>Background</p> <p>Although oxidative stress by accumulation of reactive oxygen species (ROS) in diabetes has become evident, it remains unclear what genes, involved in redox balance, would determine susceptibility for development of atherosclerosis in diabetes. This study evaluated the effect of genetic polymorphism of enzymes producing or responsible for reducing ROS on coronary artery calcification in type 2 diabetes (T2D).</p> <p>Methods</p> <p>An index for coronary-arteriosclerosis, coronary artery calcium score (CACS) was evaluated in 91 T2D patients using a multi-slice computed tomography. Patients were genotyped for ROS-scavenging enzymes, <it>Glutathione peroxidase-1 (GPx-1)</it>, <it>Catalase, Mn-SOD</it>, <it>Cu/Zn-SOD</it>, as well as SNPs of <it>NADPH oxidase </it>as ROS-promoting elements, genes related to onset of T2D (<it>CAPN10, ADRB3, PPAR gamma, FATP4</it>). Age, blood pressure, BMI, HbA_1c, lipid and duration of diabetes were evaluated for a multivariate regression analysis.</p> <p>Results</p> <p>CACS with Pro/Leu genotype of the <it>GPx-1 </it>gene was significantly higher than in those with Pro/Pro (744 ± 1,291 vs. 245 ± 399, respectively, <it>p </it>= 0.006). In addition, genotype frequency of Pro/Leu in those with CACS ≥ 1000 was significantly higher than in those with CACS < 1000 (45.5% vs. 18.8%; <it>OR </it>= 3.61, <it>CI </it>= 0.97–13.42; <it>p </it>= 0.045) when tested for deviation from Hardy-Weinberg's equilibrium. Multivariate regression analyses revealed that CACS significantly correlated with <it>GPx-1 </it>genotypes and age.</p> <p>Conclusion</p> <p>The presence of Pro197Leu substitution of the <it>GPx-1 </it>gene may play a crucial role in determining genetic susceptibility to coronary-arteriosclerosis in T2D. The mechanism may be associated with a decreased ability to scavenge ROS with the variant <it>GPx-1</it>.</p

The genotype-dependent phenotypic landscape of quinoa in salt tolerance and key growth traits

スーパー作物キヌアの多様性を解明 --高い環境適応性と優れた栄養特性をもつキヌアの品種改良に期待--. 京都大学プレスリリース. 2020-10-15.Cultivation of quinoa (Chenopodium quinoa), an annual pseudocereal crop that originated in the Andes, is spreading globally. Because quinoa is highly nutritious and resistant to multiple abiotic stresses, it is emerging as a valuable crop to provide food and nutrition security worldwide. However, molecular analyses have been hindered by the genetic heterogeneity resulting from partial outcrossing. In this study, we generated 136 inbred quinoa lines as a basis for the molecular identification and characterization of gene functions in quinoa through genotyping and phenotyping. Following genotyping-by-sequencing analysis of the inbred lines, we selected 5, 753 single-nucleotide polymorphisms (SNPs) in the quinoa genome. Based on these SNPs, we show that our quinoa inbred lines fall into three genetic sub-populations. Moreover, we measured phenotypes, such as salt tolerance and key growth traits in the inbred quinoa lines and generated a heatmap that provides a succinct overview of the genotype–phenotype relationship between inbred quinoa lines. We also demonstrate that, in contrast to northern highland lines, most lowland and southern highland lines can germinate even under high salinity conditions. These findings provide a basis for the molecular elucidation and genetic improvement of quinoa and improve our understanding of the evolutionary process underlying quinoa domestication

生活習慣病としての骨粗鬆症

Osteoporosis is diagnosed in the presence of increased risk of fracture, but not by the presence of fracture. Osteoporotic fracture is associated with increased mortality and decreased quality of life (QOL) in the elderly. Hip fracture has poor prognosis such that the mortality is high after the fracture and patients quite often need long-term care. Vertebral fracture has high incidence. Although its significance is often overlooked, it is associated with poor QOL, and decreased pulmonary and digestive function. Thus osteoporotic fracture is a preventive disease. Unfortunately, the significance of osteoporosis is not fully acknowledged in the general population. For the prevention of osteoporosis, the collaboration of those with diverse speciality is essential such as the one with medical doctors and dietitians, nurses, and health policy maker

Evaluation of Bronchoalveolar Lavage as a Diagnostic Procedure for Primary Pulmonary B-cell Lymphoma

We evaluated retrospectively the role of bronchoalveolar lavage (BAL) in the diagnosis of primary pulmonary B-cell lymphoma in four patients. Histological examination of transbronchial lung biopsy specimens showed nonspecific infiltration of small lymphocytes. Examination of BAL fluid (BALF) samples showed lymphocytosis in all samples with dominant B-cell in two patients and T-cell in the remaining patients. In two patients only, there was a increase in B-cell bearing IgM light-chain or M-protein in BALF samples. our results suggest that the diagnostic value of BAL in primary pulmonary B-cell lymphoma is limited and that new molecular biological techniques should be adapted for analysis of BALF samples