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目的探讨重庆汉族男性载脂蛋白B基因(apolipoprotein B,ApoB)MspⅠ、XbaⅠ、EcoRⅠ位点的多态性与血脂水平的关系。方法采用基因芯片技术,检测血脂异常组157人和健康对照组180人载脂蛋白B基因MspⅠ、XbaⅠ、EcoRⅠ位点的多态性,并分析其与血脂水平的关系。结果血脂异常组和健康对照组组内比较,MspⅠ位点M+M-基因型的总胆固醇(TC)水平高于M+M+基因型[异常组:(6.54±0.58)vs(5.58±0.83)mmol/L,P<0.01;对照组:(5.43±0.17)vs(4.39±0.62)mmol/L,P<0.01)];XbaⅠ位点X+X-基因型的高密度脂蛋白胆固醇(HDL-C)水平和低密度脂蛋白胆固醇(LDL-C)水平分别低于和高于X-X-基因型[异常组HDL-C:(1.08±0.27)vs(1.22±0.44)mmol/L,P=0.03;LDL-C:(3.88±0.63)vs(3.46±0.83)mmol/L,P=0.01;对照组HDL-C:(1.31±0.43)vs(1.48±0.37)mmol/L,P=0.04;LDLC:(3.19±0.54)vs(2.94±0.59)mmol/L,P=0.02];EcoRⅠ位点E+E-基因型的HDL-C水平低于E+E+基因型[异常组:(1.01±0.18)vs(1.21±0.43)mmol/L,P=0.01;对照组:(1.27±0.20)vs(1.47±0.40)mmol/L,P=0.03]。血脂异常组和对照组组间比较,异常组X+X-基因型HDL-C水平和LDL-C水平分别低于和高于对照组X+X-基因型[HDL-C:(1.08±0.27)vs(1.31±0.43)mmol/L,P=0.01;LDL-C:(3.88±0.63)vs(3.19±0.54)mmol/L,P<0.01];异常组E+E-基因型HDL-C水平低于对照组E+E-基因型[(1.01±0.18)vs(1.27±0.20)mmol/L,P<0.01]。多元线性回归分析结果显示,MspⅠ多态性与TC呈正相关,XbaⅠ多态性与HDL-C呈负相关、与LDL-C呈正相关。结论 ApoB基因MspⅠ和XbaⅠ多态性对血脂水平有一定的影响,M+M-基因型有使TC水平升高的趋势,X+X-基因型有使HDL-C水平降低、LDL-C水平升高的趋势。
Objective To investigate the relationship between polymorphisms of MspⅠ, XbaⅠ, EcoRⅠ and serum lipids in Chongqing Han male apolipoprotein B gene (ApoB). Methods The gene polymorphisms of MspⅠ, XbaⅠ, EcoRⅠ in apolipoprotein B gene of 157 patients with dyslipidemia and 180 healthy controls were detected by gene chip technique. The relationship between them and serum lipid level was analyzed. Results The level of total cholesterol (TC) in M + M genotype of dyslipidemia group and healthy control group was higher than that in M + M + genotype (abnormal group: (6.54 ± 0.58) vs (5.58 ± 0.83) (5.41 ± 0.17 vs 4.39 ± 0.62 mmol / L, P <0.01). The levels of HDL-1 in X + X- C and LDL-C were lower and higher than those of genotype XX-genotype [HDL-C: (1.08 ± 0.27) vs (1.22 ± 0.44) mmol / L, P = 0.03 ; LDL-C: (3.88 ± 0.63) vs (3.46 ± 0.83) mmol / L, P = 0.01; HDL-C: 1.31 ± 0.43 vs 1.48 ± 0.37 mmol / L, (3.19 ± 0.54) vs (2.94 ± 0.59) mmol / L, P = 0.02]. The HDL-C level of E + E genotype in EcoRI site was lower than that in E + E + genotype ) vs (1.21 ± 0.43) mmol / L, P = 0.01; control group: (1.27 ± 0.20) vs (1.47 ± 0.40) mmol / L, P = 0.03]. HDL-C and LDL-C levels in X + -X genotypes in the abnormal group were significantly lower than those in the control group (HDL-C: 1.08 ± 0.27 (1.31 ± 0.43) mmol / L, P = 0.01; LDL-C: 3.88 ± 0.63 vs 3.19 ± 0.54 mmol / L, P <0.01] The level of E + E was lower than that of control group [(1.01 ± 0.18) vs (1.27 ± 0.20) mmol / L, P <0.01]. Multivariate linear regression analysis showed that Msp Ⅰ polymorphism was positively correlated with TC, Xba Ⅰ polymorphism was negatively correlated with HDL-C, and positively correlated with LDL-C. Conclusion The MspⅠ and XbaⅠ polymorphisms of ApoB gene have some effects on the level of blood lipid. M + M-genotype has the tendency of increasing the TC level. The X + X-genotype has the effect of decreasing the level of HDL-C and the level of LDL-C Increasing trend.