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糖尿病性多发性神经病患者中蛋白酶体调节剂9基因rs14259多态性

Proteasome Modulator 9 Gene rs14259 Polymorphism in Patients with Diabetic Polyneuropathy.

作者信息

Şalçini Celal, Sunter Gülin, Özen Fatih, Özer Yağmur, Arslan Belkıs Atasever

机构信息

Department of Neurology, NP İstanbul Brain Hospital, Üsküdar University, İstanbul, Turkey.

Department of Neurology, Marmara Üniversitesi School of Medicine, İstanbul, Turkey.

出版信息

Noro Psikiyatr Ars. 2020 Apr 24;58(4):289-291. doi: 10.29399/npa.24801. eCollection 2021.

Abstract

INTRODUCTION

Diabetic polyneuropathy (DPN) is a major chronic neurological complication of diabetes mellitus (DM) and typically presents as diabetic sensory polyneuropathy (DSPN). Whereas some patients with similar risk factors develop polyneuropathy, others don't, which suggests that genetics plays an important role in the progression of disease. The is a transcriptional regulator of the insulin gene and its variants cause beta-cell dysfunction that devastates insulin transcription. The aim of this study was to determine the correlation between PSMD9 rs14259 polymorphism and the risk of DSPN in Turkish DM patients with DPN.

METHODS

The study included 31 DM patients with DSPN and 29 healthy controls. All participants underwent electrophysiological investigation. In addition, DNA was isolated from peripheral blood samples for the genotyping of rs14259 polymorphism.

RESULTS

Mean age in the DSPN and control groups was 58.03±9.59 years and 57.62±12.32 years, respectively. There were significant differences between the DSPN and controls groups in the frequencies of the genotype for AA (n=9 and n=12, respectively), AG (n=10 and n=15, respectively), and GG (n=12 and n=2, respectively). According to the distribution of rs14259 polymorphism, 45.2% (n=28) of the patients and 67.2% (n=39) of the controls had the A allele, and 54.8% (n=34) of the patients and 32.8% (n=19) of the controls had the G allele, whereas the frequency of the G allele of rs14259 was significantly higher in the DSPN group (X=1.059, P=0.015) than in the control group (OR: 2.49; 95% CI: 1.18-5.23).

CONCLUSION

The present findings show that the GG genotype and G allele of rs14259 polymorphism may be associated with an increased risk of DSPN in Turkish DM patients.

摘要

引言

糖尿病性多发性神经病(DPN)是糖尿病(DM)的一种主要慢性神经并发症,通常表现为糖尿病性感觉性多发性神经病(DSPN)。尽管一些具有相似危险因素的患者会发生多发性神经病,但另一些患者则不会,这表明遗传因素在疾病进展中起重要作用。PSMD9是胰岛素基因的转录调节因子,其变体导致β细胞功能障碍,破坏胰岛素转录。本研究的目的是确定土耳其糖尿病性多发性神经病患者中PSMD9 rs14259多态性与DSPN风险之间的相关性。

方法

该研究纳入了31例患有DSPN的糖尿病患者和29名健康对照者。所有参与者均接受了电生理检查。此外,从外周血样本中提取DNA,用于PSMD9 rs14259多态性的基因分型。

结果

DSPN组和对照组的平均年龄分别为58.03±9.59岁和57.62±12.32岁。DSPN组和对照组在AA基因型(分别为n = 9和n = 12)、AG基因型(分别为n = 10和n = 15)和GG基因型(分别为n = 12和n = 2)的频率上存在显著差异。根据PSMD9 rs14259多态性的分布,45.2%(n = 28)的患者和67.2%(n = 39)的对照者具有A等位基因,54.8%(n = 34)的患者和32.8%(n = 19)的对照者具有G等位基因,而rs14259的G等位基因频率在DSPN组(X = 1.059,P = 0.015)显著高于对照组(OR:2.49;95%CI:1.18 - 5.23)。

结论

目前的研究结果表明,PSMD9 rs14259多态性的GG基因型和G等位基因可能与土耳其糖尿病患者DSPN风险增加有关。

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