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An association study of C9orf3, a novel component of the renin-angiotensin system, and hypertension in diabetes
Scientific Reports ( IF 4.6 ) Pub Date : 2020-09-30 , DOI: 10.1038/s41598-020-73094-0
Mai Ichikawa 1 , Tadashi Konoshita 1 , Yasukazu Makino 1 , Jinya Suzuki 1 , Tamotsu Ishizuka 1 , Hiroyuki Nakamura 2
Affiliation  

The renin-angiotensin system (RAS) is important in the onset and course of cardiovascular, kidney, and metabolic disorders. Previous reports showed that the RAS blockade protects organs and suppress the development of type 2 diabetes mellitus. A novel component of the RAS, namely, chromosome 9 open reading frame 3 (C9orf3), was recently identified, however, its effects are unclear. We evaluated whether the genetic variant of C9orf3 is associated with morbidity of hypertension among subjects with type 2 diabetes. We enrolled 382 subjects with type 2 diabetes, 222 of whom were diagnosed with hypertension. Human leukocyte genomic DNA was isolated and a genetic variant was analyzed for a C/T variant of C9orf3 (rs4385527) via PCR analysis. The relationship between the genotype and hypertension morbidity among subjects with diabetes was examined. The proportion of the respective C9orf3 genetic variants were as follows 247 CC, 119 CT, and 16 TT. The risk of hypertension was determined to be 1.58, with a 95% confidence interval of 1.11–2.27. Moreover, the p value was 0.012 for allelic comparison and for Armitage’s trend test, with the C allele identified as the risk factor. Consequently, hypertension was markedly associated with type 2 diabetes in subjects with the C9orf3 variant, exhibiting a nearly 1.6-fold increased risk. The C variant of a new component of the RAS, C9orf3 (rs4385527) might have a considerable impact on the pathogenesis of hypertension in diabetes.



中文翻译:

肾素-血管紧张素系统的新成分 C9orf3 与糖尿病高血压的关联研究

肾素-血管紧张素系统 (RAS) 在心血管、肾脏和代谢疾病的发病和过程中很重要。先前的报告表明,RAS 阻断剂可保护器官并抑制 2 型糖尿病的发展。最近发现了 RAS 的一个新组成部分,即染色体 9 开放阅读框 3 (C9orf3),但是,其影响尚不清楚。我们评估了 C9orf3 的遗传变异是否与 2 型糖尿病受试者的高血压发病率相关。我们招募了 382 名 2 型糖尿病受试者,其中 222 名被诊断患有高血压。分离了人类白细胞基因组 DNA,并通过 PCR 分析分析了 C9orf3 (rs4385527) 的 C/T 变异的遗传变异。研究了糖尿病受试者中基因型与高血压发病率之间的关系。各个C9orf3遗传变异的比例如下:247 CC、119 CT和16 TT。高血压风险确定为 1.58,95% 置信区间为 1.11-2.27。此外,等位基因比较和 Armitage 趋势检验的 p 值为 0.012,其中 C 等位基因被确定为风险因素。因此,在 C9orf3 变异的受试者中,高血压与 2 型糖尿病显着相关,风险增加了近 1.6 倍。RAS 新成分 C9orf3 (rs4385527) 的 C 变体可能对糖尿病高血压的发病机制有相当大的影响。012 用于等位基因比较和 Armitage 趋势检验,其中 C 等位基因被确定为风险因素。因此,在 C9orf3 变异的受试者中,高血压与 2 型糖尿病显着相关,风险增加了近 1.6 倍。RAS 新成分 C9orf3 (rs4385527) 的 C 变体可能对糖尿病高血压的发病机制有相当大的影响。012 用于等位基因比较和 Armitage 趋势检验,其中 C 等位基因被确定为风险因素。因此,在 C9orf3 变异的受试者中,高血压与 2 型糖尿病显着相关,风险增加了近 1.6 倍。RAS 新成分 C9orf3 (rs4385527) 的 C 变体可能对糖尿病高血压的发病机制有相当大的影响。

更新日期:2020-09-30
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