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.%目的 分析蛋白酶调解因子9(PSMD9)基因的IVS3+nt460 A＞G、IVS3+nt437 T＞C、E197G A＞G 3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+nt460 A＞G、IVS3+nt437 T＞C、E197G A＞G 3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 PSMD9 IVS3 nt460 A＞G、IVS3+nt437 T＞C和E197G A＞G 3个位点基因型均符合Hardy Weinberg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IVS3 nt437和IVS3 nt460两个SNP位点完全连锁不平衡(D'=1.00,r2=1.00,P＜0.01),E197G与IVS3 nt437和IVS3 nt460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+nt437 T＞C、E197G A＞G 3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+nt460 A＞G、IVS3+nt437 T＞C、E197G A＞G 3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.
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