Yamana K, Yanagi H, Hirano C, Kobayashi K, Tanaka M, Tomura S, Tsuchiya S, Hamaguchi H
Institute of Community Medicine, University of Tsukuba, Ibaraki, Japan.
J Atheroscler Thromb. 1998;4(3):97-101. doi: 10.5551/jat1994.4.97.
Lipoprotein lipase (LPL) is an important enzyme for the hydrolysis of TG on lipoproteins, and its activity is positively correlated with the plasma levels of high density lipoprotein cholesterol (HDL-C). To investigate the association between the LPL gene and low HDL-C levels, we studied two polymorphisms (Hind III and Pvu II) and three mutations (Asn291Ser, Gly188Glu and LPL(Arita)) of the LPL gene in 114 children with low HDL-C levels (<40 mg/dl) and 194 control children using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques (PCR-RFLP). The frequency of the Pvu II +/+ genotype was significantly higher in the children with low-HDL/high-TG (TG>100 mg/dl, 90th percentile level among Japanese schoolchildren) than in the other children (vs the low-HDL/normal-TG children, chi2 = 7.49, p < 0.01; vs control children, chi2 = 7.23, p < 0.01). Pvu II+ allele of the LPL gene was associated with elevated TG levels in low HDL-C groups. In addition, we found one heterozygote of LPL(Arita) (deletion of G at base 916 in exon 5, the most common mutation of LPL deficiency in Japanese), among the low-HDL/high-TG subjects. The other two variants were not detected in either the low-HDL children or control children. LPL Asn291Ser and Gly188Glu have been presumed to be rare in the Japanese population. In conclusion, our results suggest that hypoalphalipoproteinemia with elevated TG level may be associated with genetic variations of the LPL gene.
脂蛋白脂肪酶（LPL）是一种水解脂蛋白上甘油三酯（TG）的重要酶，其活性与血浆高密度脂蛋白胆固醇（HDL-C）水平呈正相关。为了研究LPL基因与低HDL-C水平之间的关联，我们使用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）技术（PCR-RFLP），对114名HDL-C水平低（<40mg/dl）的儿童和194名对照儿童的LPL基因的两个多态性（Hind III和Pvu II）和三个突变（Asn291Ser、Gly188Glu和LPL(Arita)）进行了研究。低HDL/高TG（TG>100mg/dl，日本学龄儿童第90百分位数水平）儿童中Pvu II +/+基因型的频率显著高于其他儿童（与低HDL/正常TG儿童相比，χ2 = 7.49，p < 0.01；与对照儿童相比，χ2 = 7.23，p < 0.01）。LPL基因的Pvu II +等位基因与低HDL-C组中TG水平升高有关。此外，在低HDL/高TG受试者中，我们发现了1例LPL(Arita)杂合子（外显子5中第916位碱基G缺失，这是日本人中LPL缺乏最常见的突变）。在低HDL儿童或对照儿童中均未检测到其他两个变异体。LPL Asn291Ser和Gly188Glu在日本人群中被认为是罕见的。总之，我们的结果表明，TG水平升高的低脂蛋白血症可能与LPL基因的遗传变异有关。
