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目的探讨老年高脂血症患者血脂水平与载脂蛋白B基因3’端可变数目串联重复序列(apoB基因3’VNTR)结构中不同基因型的相关性。方法选取北京地区老年汉族高脂血症患者和血脂正常者(对照组)各300例,采用酶法检测其血脂水平,并用PCR扩增和核苷酸序列分析方法确定携带apoB基因3’VNTR大等位基因的长度,将其中携带该大等位基因的高脂血症组与对照组进行比较。结果(1)600例样本中,共检出长度不同的apoB 3’VNTR等位基因18种,高脂血症组大等位基因频率显著高于对照组(9．2％比6．3％,P<0．05);(2)根据基因型不同,分为相对大等位基因型HVE38—52／HVE38—52(BB组)、相对小等位基因型HVE25—36／HVE38—52(SB)和更小的等位基因型(SS组)3组,BB组TC、LDL—C和HDL-C水平明显高于SB组、SS组(P<0．05),且SB组的TC和LDL—C水平亦明显高于SS组的水平(P<0．05);(3)Logistic多元回归分析显示,在大等位基因样本中TC、LDL-C、HDL-C与基因型增大相关(OR=0．115～0．145,均为P<0．05)。结论老年高脂血症患者中3’VNTR大等位基因频数明显多于对照组,且TC、LDL-C、HDL-C水平与apoB基因型增大相关,表明apoB基因3’VNTR多态性可能是影响血脂水平的遗传因素之一。
Objective To investigate the relationship between plasma lipids and different genotypes in the structure of apoB gene 3’VNTR at the 3 ’end of apolipoprotein B gene in elderly patients with hyperlipidemia. Methods 300 elder Han patients with hyperlipidemia and normal blood lipids (control group) were selected from 300 elderly patients in Beijing. Serum lipids levels were measured by enzyme-linked immunosorbent assay. The 3’VNTR gene carrying apoB gene was determined by PCR amplification and nucleotide sequence analysis The length of the allele was compared with that of the control group in the hyperlipidemia group carrying the large allele. Results (1) Of the 600 samples, 18 apoB 3’VNTR alleles were detected in different length. The frequencies of major alleles in hyperlipemia group were significantly higher than those in control group (9.2% vs 6.3% , P <0.05). (2) According to the different genotypes, HVE38-52 / HVE38-52 (BB group) and relatively small allele HVE25-36 / HVE38-52 SB, and the smaller allele (SS) group. The levels of TC, LDL-C and HDL-C in BB group were significantly higher than those in SB group and SS group (P <0.05) (P <0.05); (3) Logistic multiple regression analysis showed that TC, LDL-C, HDL-C and genotype increased in large allele samples (OR = 0.115 ~ 0.145, both P <0.05). Conclusion The frequency of 3’VNTR major allele is significantly higher in elderly patients with hyperlipidemia than in control group, and the levels of TC, LDL-C and HDL-C are correlated with the increase of apoB genotype, indicating that 3’VNTR polymorphism of apoB gene May be one of the genetic factors that affect blood lipid levels.