[Study on lipoprotein lipase gene Hind III polymorphism in Chinese type IIb hyperlipoproteinemia].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Dec; 20(6):539-41.ZY
To investigate whether lipoprotein lipase (LPL) gene Hind III polymorphism is associated with Chinese type IIb hyperlipoproteinemia.
Lipoprotein lipase gene Hind III polymorphism was studied using polymerase chain reaction (PCR) and restriction fragment length polymorphisms (RFLP) in 103 type IIb hyperlipoproteinemia patients and 129 healthy subjects from a population of Chinese Hans in Chengdu area.
Both in type IIb hyperlipoproteinemia group and control group, the H+H+ homozygote was the major allelotype. The H+ allelic frequency of type IIb hyperlipoproteinemia group was higher than that of control group (0.864 vs 0.705, P<0.01). But the H- allelic frequency of type IIb hyperlipoproteinemia group was significantly lower than that of control group (0.136 vs 0.295, P<0.01). The plasma triglycerides (TG) level of H+H+ genotype was significantly higher than that of H+H- and H-H- genotypes (P<0.05 and P<0.01); the plasma TC level and TG/HDL C ratio were higher than those of H+H- and H-H- genotypes (P<0.05); apoA II levels of H+H+ and H+H- genotypes were significantly lower than that of H-H- genotype (P<0.01 and P<0.05).
The Hind III RFLP at intron 8 of LPL gene is associated with type II b hyperlipoproteinemia to some extent in Chinese population.