甘肃回、汉族糖尿病肾病患者Apo-E基因多态性与生化、脂代谢指标的相关性

目的研究回、汉两民族2型糖尿病肾病患者的载脂蛋白E（Apo—E）基因的遗传多态性及与生化、脂代谢的关系。方法以Apo—E为候选基因，用PCR—RFLP方法检测回、汉两民族2型糖尿病（DM）和糖尿病肾病（DN）患者的Apo—E基因多态性，并探讨与相应生化、血脂异常的关系。结果（1）回族和汉族Apo—E基因型及基因频率的分布有明显差异，回族有3种基因型：E2／E3、E3／E3和E3／E4，其频率分别为0．043，0．894和0．064；汉族有5种：E2／E2、E2／E3、E2／E4、E3／E3和E3／E4，其频率分别为0．075、0．060、0．164、0．642和0．060。E2、E3和E43个等位基因的频率在回族和汉族中分别为0．021、0．947、0．032和0．187、0．702、0．112。基因型频率的差异在回族和汉族有统计学意义（P〈0．01），基因频率的差异也有统计学意义（P〈0．05）。（2）汉族2型DM有2种基因型E2／E4和E3／E3，其基因型和3个等位基因频率分别为0．500、0．500和0．250，0．500，0．250；DN有4种基因型，即E2／E2、E2／E3、E2／E4和E3／E3，其频率和3个等位基因频率为0．238，0．191，0．191，0．381和0．429，0．476，0．095。表明基因型E2／E2、E2／E3与汉族患DM合并DN有关。而回族DM、DN仅发现一种基因型，即E3／E3。（3）在汉族DN患者中，带有E2／E2和E2／E3基因型者的血甘油三酯（TG）和总胆固醇（TC）水平显著高于E3／E3和E2／E4基因型患者；而带有E2／E2基因型的汉族DN患者的尿白蛋白排泄率（UAER）、尿素氮（BUN）、肌酐（Cr）和收缩压显著升高（P〈0．05或P〈0．01）。在回族患者中仅发现一种基因型E3／E3。结论回、汉族DN患者之间Apo—E基因多态性存在种族差异，其与血脂水平和UAER、BUN、Cr的相关性存在着民族间的差异。汉族患者E2等位基因、E2／E2基因型与血脂和生化异常有关：回族患者并无这一联系，该结果提示回族人群易患ON的倾向与E2等位基因和E2／E2基因型无关。

Association of Apo-E gene polymorphism with biochemical and lipid metabolism parameters in patients with diabetic nephropathy of Hui and Han populations in Gansu Province

Objective To study the association of apolipoprotein ( Apo) E gene polymorphism with difference in biochemical metabolism of diabetic nephropathy of Hui and Han populations. Methods ApoE genotype was determined by PCR-RFLP in diabetic patients with or without diabetic nephropathy (DN) and normal peoples in Hui and Han peoples, the related biochemical parameters were simultaneously detected. Results (1) Huis had 3 genotypes, i. e. E2/E3, E3/E3 and E3/E4, and their frequencies were 0. 043, 0. 894 and 0. 064, respectively. Hans had 5 genetypes, i. e. E2/E2, E2/E3 , E2/E4, E3/E3 and E3/E4, and their frequencies were 0.075,0.060, 0.164, 0.642 and 0.060, respectively. The frequencies of 3 alleles, E2, E3 and E4, in Huis and Hans were 0.021, 0.947, 0.032 and 0.187, 0. 702, 0.112, respectively. The results showed that difference in frequencies of genotypes and alleles of Huis and Hans was very significant (both P < 0.01). (2) Type 2 diabetic patients without DN in Hans had 2 genotypes, E2/E4, E3/E3, and 3 alleles, E2, E3, E4, and their frequencies were 0.500, 0. 500 and 0. 250, 0. 500, 0. 250, respectively. Type 2 diabetic patients with DN in Hans had 4 genotypes E2/E2, E2/E3, E2/E4, E3/E3 and 3 alleles E2, E3, E4, and their frequencies were 0. 238,0.191, 0.191, 0. 381 and 0.429, 0.476, 0.095 respectively. The results showed that E2/E2 and E2/E3 genotypes were related to DN of type 2 diabetes. (3 ) In type 2 diabeitc patients with DN in Hans, the levels of serum triglyceride and total cholesterol in the patients with E2/E2 and E3/E3 were higher than those in the patients with E3/E3 and E2/E4; Urinary albumin excretion rate (UAER) , blood urea nitrogen (BUN) and blood creatinine (Cr) of the patients with E2/E2 were higher than those in patients with other genotypes (P <0. 05 or P <0. 01). However, only one genotype E3/E3 was detected in the patients of Huis. Conclusion Significant ethnic difference was found in Apo-E genotype and gene frequency between Hui and Han patients with DN. Biochemical parameters ( UAER, BUN, Cr) and levels of blood lipids also indicated the difference between Hui and Han patients with DN. The E2 allele and E2/E2 genotype could be related to blood lipids and biochemical abnomality in patients with DN in Han population, however, this relationship was not detected in DN Patient in Hui population. The result suggested that the susceptivity to DN was not related to E2 allele and E2/E2 genotype in DN patient in Hui population.