Dataset Information

Association of extracellular superoxide dismutase (EC-SOD) polymorphisms with risk of type 2 diabetes mellitus in a Chinese Han population.

ABSTRACT: We aimed to investigate whether the EC-SOD rs2536512, rs8192291 and rs1799895 polymorphisms and haplotypes are associated with T2DM in a Chinese Han population. A total of 540 Chinese Han patients with T2DM and 562 healthy subjects were enrolled in our study since October 2013, and all of them had no blood relationship. An iPlex GLOD SNP genotyping analysis of the EC-SOD rs2536512, rs8192291 and rs1799895 was carried out in a 384 well plate format using the Sequenom MassARRAY® System (Sequenom, Inc. San Diego, USA). We observed that the CT (OR=1.58, 95% CI=1.20-2.08) and TT (OR=15.27, 95% CI=4.34-53.75) genotypes of rs8192291 were associated with T2DM susceptibility compared with the CC genotype. In dominant and recessive models, rs8192291 was correlated with a moderate statistically increased susceptibility of T2DM compared with the reference genotype. The GTC, GCC and GCG haplotypes were associated with risk of T2DM. In summary, rs8192291 polymorphism and haplotypes may become a useful biomarker for prediction of the susceptibility of this disease. Further experiments are necessary to validate our results.

SUBMITTER: Li H

PROVIDER: S-EPMC6966074 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Association of extracellular superoxide dismutase (EC-SOD) polymorphisms with risk of type 2 diabetes mellitus in a Chinese Han population.

Li Haoyun H Zhang Changmeng C He Li L Zhang Fengjiao F Luo Fang F Yuan Yizhe Y Li Qingchu Q

International journal of clinical and experimental pathology 20171201 12

We aimed to investigate whether the EC-SOD rs2536512, rs8192291 and rs1799895 polymorphisms and haplotypes are associated with T2DM in a Chinese Han population. A total of 540 Chinese Han patients with T2DM and 562 healthy subjects were enrolled in our study since October 2013, and all of them had no blood relationship. An iPlex GLOD SNP genotyping analysis of the EC-SOD rs2536512, rs8192291 and rs1799895 was carried out in a 384 well plate format using the Sequenom MassARRAY<sup>®</sup> System ...[more]

PMID: 31966546

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Project description:Chronic hypoxic stress induces epigenetic modifications mainly DNA methylation in cardiac fibroblasts, inactivating tumor suppressor genes (RASSF1A) and activating kinases (ERK1/2) leading to fibroblast proliferation and cardiac fibrosis. The Ras/ERK signaling pathway is an intracellular signal transduction critically involved in fibroblast proliferation. RASSF1A functions through its effect on downstream ERK1/2. The antioxidant enzyme, extracellular superoxide dismutase (EC-SOD), decreases oxidative stress from chronic hypoxia, but its effects on these epigenetic changes have not been fully explored. To test our hypothesis, we used an in-vitro model: wild-type C57B6 male mice (WT) and transgenic males with an extra copy of human hEC-SOD (TG). The studied animals were housed in hypoxia (10% O2) for 21 days. The right ventricular tissue was studied for cardiac fibrosis markers using RT-PCR and Western blot analyses. Primary C57BL6 mouse cardiac fibroblast tissue culture was used to study the in-vitro model, the downstream effects of RASSF-1 expression and methylation, and its relation to ERK1/2. Our findings showed a significant increase in cardiac fibrosis markers: Collagen 1, alpha smooth muscle actin (ASMA), and SNAIL, in the WT hypoxic animals as compared to the TG hypoxic group (p < 0.05). The expression of DNA methylation enzymes (DNMT 1&3b) was significantly increased in the WT hypoxic mice as compared to the hypoxic TG mice (p < 0.001). RASSF1A expression was significantly lower and ERK1/2 was significantly higher in hypoxia WT compared to the hypoxic TG group (p < 0.05). Use of SiRNA to block RASSF1A gene expression in murine cardiac fibroblast tissue culture led to increased fibroblast proliferation (p < 0.05). Methylation of the RASSF1A promoter region was significantly reduced in the TG hypoxic group compared to the WT hypoxic group (0.59 vs. 0.75, respectively). Based on our findings, we can speculate that EC-SOD significantly attenuates RASSF1A gene methylation and can alleviate cardiac fibrosis induced by hypoxia.

Dataset Information

Association of extracellular superoxide dismutase (EC-SOD) polymorphisms with risk of type 2 diabetes mellitus in a Chinese Han population.

Publications

Association of extracellular superoxide dismutase (EC-SOD) polymorphisms with risk of type 2 diabetes mellitus in a Chinese Han population.

Similar Datasets

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