缺氧诱导因子1α基因C1772T多态性与2型糖尿病肾病相关性研究

发布时间：2018-07-18 12:57

【摘要】：研究目的：检测汉族人群中缺氧诱导因子1α基因第12号外显子是否存在C1772T多态性，研究其与2型糖尿病肾病是否存在相关性，以探讨糖尿病肾病可能的遗传背景。研究方法：收集2012年6月～2013年5月蚌埠医学院第一附属医院内分泌科244例2型糖尿病住院患者资料，其中糖尿病肾病组患者140例（其中，男性72例，女性68例），糖尿病组（糖尿病无肾脏并发症组）患者104例（其中，男性62例，女性42例）。用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术及测序法检测缺氧诱导因子1α基因C1772T多态性，使用SPSS17.0统计软件对实验数据进行分析。研究结果： 1、汉族人群中存在缺氧诱导因子1α基因第12号外显子C1772T位点存在C/T单核苷酸多态性,使脯氨酸突变为丝氨酸（Pro582Ser）。 2、糖尿病组与糖尿病肾病组相比，，缺氧诱导因子1α基因第12外显子C1772T位点“T”等位基因携带率较高（15.38%VS7.14%， P＜0.05）， OR值为0.42（95%CI:0.18～0.98）。 3、CT型等位基因组与CC型等位基因组相比，CT基因型组血浆肌酐较低，存在统计学差异（P0.05）,两组间性别、年龄、BMI、血糖、C肽、血脂等指标无明显差异（P0.05）。 4、糖尿病组与糖尿病肾病组比较，糖尿病组血浆甘油三酯、肌酐、尿素氮较低，高密度脂蛋白胆固醇增高，存在统计学差异（P＜0.05）。 5、糖尿病肾病相关因素的logistic回归分析表明，高HbA1c、低HDL-c是糖尿病肾病的高危因素，C1772T位点基因多态性未进入方程。研究结论： 1、汉族人群中存在缺氧诱导因子1α基因第12号外显子C1772T位点C/T单核苷酸多态性。 2、缺氧诱导因子1α基因C1772T位点单核苷酸多态性中，“T”等位基因可能是2型糖尿病肾病的保护性因素，仍待进一步探讨。 3、糖尿病组与糖尿病肾病组相比较，糖尿病组甘油三酯、肌酐、尿素氮较低，高密度脂蛋白胆固醇增高。 4、高HbA1c、低HDL-c是糖尿病肾病的高危因素。
[Abstract]:Objective: to investigate the existence of C1772T polymorphism in exon 12 of hypoxia inducible factor-1 伪 gene in Chinese Han population, and to investigate its association with type 2 diabetic nephropathy, and to explore the possible genetic background of diabetic nephropathy. Methods: from June 2012 to May 2013, 244 inpatients with type 2 diabetes were collected from the Endocrinology Department of the first affiliated Hospital of Bengbu Medical College, including 140 patients (72 males) in the diabetic nephropathy group. There were 68 female patients and 104 diabetic patients (62 males and 42 females). The C1772T polymorphism of hypoxia inducible factor-1 伪 gene was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing. The experimental data were analyzed by SPSS 17.0 software. Results: 1. There was C1772T polymorphism at exon 12 of hypoxia inducible factor-1 伪 gene in Han population, which made proline mutation into serine (Pro582Ser). The allele "T" of exon 12 of hypoxia inducible factor 1 伪 gene was higher (15.38 vs 7.14, P < 0.05), the OR value was 0.42 (95CI: 0.180.98). There was statistical difference between the two groups (P0.05). There was no significant difference between the two groups in sex, age, blood glucose, C peptide and blood lipid (P0.05). 4. Compared with diabetic nephropathy group, plasma triglyceride, creatinine, urea nitrogen were lower in diabetic group than that in diabetic nephropathy group. The correlation factors of diabetic nephropathy were analyzed by logistic regression analysis. The high HbA1c and low HDL-c were the high risk factors of diabetic nephropathy, and the polymorphism of C1772T locus was not entered the equation. Conclusions: 1. There is a single nucleotide polymorphism at the C1772T locus at exon 12 of the hypoxia inducible factor-1 伪 gene in Han population, and a single nucleotide polymorphism at C1772T locus in the hypoxia inducible factor-1 伪 gene. The "T" allele may be the protective factor of type 2 diabetic nephropathy. 3. Compared with diabetic nephropathy group, triglyceride, creatinine and urea nitrogen are lower in diabetic group. High density lipoprotein cholesterol, high HBA 1 c and low HDL c were high risk factors for diabetic nephropathy.
【学位授予单位】：蚌埠医学院
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R587.2;R692

【参考文献】