Department of Clinical laboratory, The First Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.
Department of Clinical Laboratory, Shanghai Songjiang Jiuting Hospital, Shanghai, China.
Front Endocrinol (Lausanne). 2022 Dec 2;13:1059641. doi: 10.3389/fendo.2022.1059641. eCollection 2022.
A novel, rare OTUD3 c.863G>A (rs78466831) in humans has been reported associated with diabetes, but the prevalence and clinical characteristics of T2DM patients with rs78466831 have not been reported before.
To investigate the prevalence and clinical characteristics of T2DM patients with rs78466831 and provide a basis for clinical diagnosis and treatment.
OTUD3 gene rs78466831 SNP was detected by Sanger sequencing in all the collected specimens of laboratory-confirmed T2DM patients and healthy people. Clinical characteristics indexes inconsisting of fasting blood glucose (FBG), glycosylated hemoglobin (HbA1c), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), total cholesterol (TC), triglyceride (TG) and a body mass index (BMI), T2DM-associated chronic complications (myocardial infarction, cerebrovascular disease, retinopathy, arterial plaque, peripheral neuropathy and nephropathy) were obtained from the clinical laboratory information systems and electronic medical record system. Clinical characteristic indicators were compared between the wild-type and variant (rs78466831) patients with T2DM.
The prevalence of rs78466831 in the T2DM patients group was significantly higher than the healthy control in our academic center. The general characteristic indicators were not significantly different between the wild-type and rs78466831 patients with T2DM, except the family history of diabetes. Clinical laboratory indicators including HbA1c, FBG, OGTT, TC, HDL-C, LDL-C and CP had no significant difference between the two groups. The therapeutic drug and target achievement rates were not significantly different between the two groups. The incidence of diabetic retinopathy in the variant group was significantly higher than the wild-type group.
The OTUD3 gene rs78466831 was associated with T2DM and may be a biological risk factor of diabetes retinopathy.
人类中一种新的、罕见的 OTUD3 c.863G>A（rs78466831）已被报道与糖尿病相关，但 rs78466831 与 T2DM 患者的患病率和临床特征尚未报道。
研究 rs78466831 与 T2DM 患者的患病率和临床特征，为临床诊断和治疗提供依据。
通过 Sanger 测序法检测所有实验室确诊的 T2DM 患者和健康人群的 OTUD3 基因 rs78466831 SNP。从临床实验室信息系统和电子病历系统中获取空腹血糖（FBG）、糖化血红蛋白（HbA1c）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）、总胆固醇（TC）、甘油三酯（TG）和体重指数（BMI）等不一致的临床特征指标，以及 T2DM 相关的慢性并发症（心肌梗死、脑血管病、视网膜病变、动脉斑块、周围神经病和肾病）。比较 rs78466831 野生型和变异型（rs78466831）T2DM 患者的临床特征指标。
在我们的学术中心，rs78466831 在 T2DM 患者组的患病率明显高于健康对照组。除糖尿病家族史外，野生型和 rs78466831 型 T2DM 患者的一般特征指标无显著差异。HbA1c、FBG、OGTT、TC、HDL-C、LDL-C 和 CP 等临床实验室指标在两组间无显著差异。两组间治疗药物和目标达标率无显著差异。变异组糖尿病视网膜病变的发生率明显高于野生型组。
OTUD3 基因 rs78466831 与 T2DM 相关，可能是糖尿病视网膜病变的生物学危险因素。
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