| 摘要: |
| 目的分析蛋白酶调解因子9（PSMD9）基因的IVS3+nt460A＞G、IVS3+nt437T＞C、E197GA＞G3个单核苷酸多态性（SNP）位点的多态性与2型糖尿病（T2DM）及T2DM合并高血压（HTN）之间的关系，探讨其作为国人T2DM合并高血压分子标记物的可能性。方法采用直接测序法检测研究对象PSMD9基因的IVS3+nt460A＞G、IVS3+nt437T＞C、E197GA＞G3个SNP位点的多态性，包括T2DM无高血压患者50例（T2DM组）、原发性高血压血糖正常患者50例（HTN组）、T2DM合并高血压患者100例（T2DM-HTN组）以及健康对照者50例（NC组），并测定血压、空腹血糖及糖化红蛋白。结果PSMD9IVS3nt460A＞G、IVS3+nt437T＞C和E197GA＞G3个位点基因型均符合HardyWeinberg平衡，表明本研究具有群体代表性。连锁不平衡检验结果显示这3个SNP位点之间存在连锁不平衡现象，其中IVS3nt437和IVS3nt460两个SNP位点完全连锁不平衡(D'=1.00,r2=1.00，P＜0.01)，E197G与IVS3nt437和IVS3nt460之间存在很强的连锁不平衡(D'=0.96，r2=0.88，P＜0.01)。PSMD9基因IVS3+nt460A＞G、IVS3+nt437T＞C、E197GA＞G3个SNP位点与血糖、高血压均无关，但PSMD9基因的A/T/G单倍型与血糖存在关联，而且与国人的T2DM合并高血压呈正相关。结论PSMD9的IVS3+nt460A＞G、IVS3+nt437T＞C、E197GA＞G3个SNP位点多态性与T2DM患者的血糖及T2DM合并高血压的发病相关，因此，PSMD9可以作为T2DM合并高血压的一个候选基因来研究。 |
| 关键词: 蛋白酶调解因子 9 2 型糖尿病 高血压 基因多态性 |
| DOI：10.12056/j.issn.1006-2785.2017.39.9.2016-1641 |
| 分类号: |
| 基金项目:浙江省医药卫生一般研究计划（2012KYB019） |
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| PSMD9 gene polymorphism is associated with plasma glucose and hypertension in type 2 diabetic patients |
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SONG Yingxiang, HUA Yanyin, ZHANG Yulv, WANG Lijun, XING Yubo, YE Xiao
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Zhejiang provincial People's Hospital/Hangzhou Medical College
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| Abstract: |
| Objective To investigate the association between the single nucleotide polymorphisms (SNPs) of
Proteasome-Modulator 9 (PSMD9) gene and the prevalence of type 2 diabetes or type 2 diabetes with hypertension in Chinese population. Methods PSMD9 gene rs74421874（IVS3+nt460 A＞G）, rs3825172 (IVS3+nt437 T＞C) and rs14259 (E197G A＞G) SNPs were determined by polymerase chain reaction (PCR) in patients with type 2 diabetes (T2DM, n=50), primary hypertension (HTN, n=50), type 2 diabetes with hypertension (T2DM-HTN, n=100) and normal controls (NC, n=50). The clinical data and lab parameters were collected. Results The three genotypes of PSMD9 IVS3 nt460 A＞G, IVS3 + nt437 T＞C and E197GA＞G were all consistent with the Hardy Weinberg equilibrium (P＞0.05). Linkage disequilibrium (LD) was done between among three SNPs (P＞0.05). A complete linkage disequilibrium was found between IVS3 nt437 and IVS3 nt460 (D'=1.00, r2=1.00, P＜0.01). A strong linkage disequilibrium was found in E197G and VS3 nt437, IVS3 nt460 (D'=0.96, r2=0.88, P＜0.01). These three SNPs of PSMD9 gene IVS3 + nt460 A＞G, IVS3 + nt437 T＞C, E197G A＞G were not associated with blood glucose and hypertension. However, the A / T / G haplotype of PSMD9 gene was associated with blood glucose, type2 diabetes and hypertension. Conclusion The polymorphism of PSDM9 SNPs (IVS3 + nt460 A＞G, IVS3 + nt437 T＞C and E197G A＞G) is correlated with plasma glucose in type 2 diabetes and onset of type 2 diabetes with hypertension, indicating that PSMD9 might be a candidate gene for type 2
diabetes mellitus and hypertension. |
| Key words: Proteasome-Modulator9 Type 2 diabetes Hypertension Gene polymorphism |
