Carmena-Ramon R F, Ordovas J M, Ascaso J F, Real J, Priego M A, Carmena R
Department of Medicine, Hospital Clinico, University of Valencia, Spain.
Atherosclerosis. 1998 Jul;139(1):107-13. doi: 10.1016/s0021-9150(98)00064-1.
We have examined the apo AI - 75 (G/A) and apo AI + 83(MspI +/-) polymorphisms at the APOA1 gene locus for associations with plasma lipid levels and response to an NCEP-I diet in 69 (44 women, 25 men) heterozygotes for familial hypercholesterolemia (FH). Subjects were studied at baseline (after consuming for one month a diet with 35%, fat, 10% saturated, and 300 mg/day cholesterol) and after 3 months of an NCEP-I diet. No gender-related differences for any of the lipid variables examined were found and the data were analyzed for men and women combined. For the apo AI - 75 (G/A) polymorphism, there were 51 G/G and 18 G/A subjects. At baseline, G/A subjects showed significantly lower total cholesterol (p = 0.0036), and LDL-C (p = 0.0023), and apo B (p = 0.0209), than G/G individuals, but no differences were found for HDL-C, triglycerides and VLDL-C values. Following the NCEP-I diet these genotype-related differences remained significant for total and LDL-C. The MspI (-) allele at the apo AI + 83 polymorphism was detected in the heterozygous state in five subjects and its presence was not associated with altered baseline lipids nor with dietary response to the NCEP-I diet. Our results suggest that FH subjects carrying the A allele at the apoAI - 75 (G/A) polymorphism have significantly lower total and LDL-C and apo B baseline levels but respond to a low-fat diet with similar reductions in total and LDL-C when compared with homozygotes for the G allele at this polymorphic site.
我们检测了69名（44名女性，25名男性）家族性高胆固醇血症（FH）杂合子的APOA1基因座上的载脂蛋白AI - 75（G/A）和载脂蛋白AI + 83（MspI +/-）多态性与血浆脂质水平以及对国家胆固醇教育计划成人治疗组第一次指南（NCEP-I）饮食反应的相关性。在基线时（食用含35%脂肪、10%饱和脂肪和300毫克/天胆固醇的饮食一个月后）以及接受NCEP-I饮食3个月后对受试者进行了研究。在所检测的任何脂质变量中均未发现性别相关差异，因此对男性和女性的数据进行了合并分析。对于载脂蛋白AI - 75（G/A）多态性，有51名G/G和18名G/A受试者。在基线时，G/A受试者的总胆固醇（p = 0.0036）、低密度脂蛋白胆固醇（LDL-C，p = 0.0023）和载脂蛋白B（p = 0.0209）显著低于G/G个体，但高密度脂蛋白胆固醇（HDL-C）、甘油三酯和极低密度脂蛋白胆固醇（VLDL-C）值无差异。遵循NCEP-I饮食后，这些与基因型相关的总胆固醇和LDL-C差异仍然显著。在5名受试者中检测到载脂蛋白AI + 83多态性的MspI（-）等位基因处于杂合状态，其存在与基线脂质改变以及对NCEP-I饮食的饮食反应均无关。我们的结果表明，在载脂蛋白AI - 75（G/A）多态性位点携带A等位基因的FH受试者的总胆固醇、LDL-C和载脂蛋白B基线水平显著较低，但与该多态性位点G等位基因纯合子相比，对低脂饮食的总胆固醇和LDL-C降低反应相似。
