Bai Huai, Liu Rui, Liu Yu, Liu Bingwen
Department of Biochemistry and Apolipoprotein Research Unit, Sichuan University, Chengdu, Sichuan 610041 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Apr;19(2):115-9.
The aim of this study was to investigate variations of apolipoprotein A IV (apo A IV) gene and its relation to endogenous hypertriglyceridemia(HTG) in Chinese population.
One hundred and six endogenous hypertriglyceridemics and 171 healthy subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphisms (RFLPs) and sequencing of apoA IV gene amplified by polymerase chain reaction (PCR). The polymorphic sites of apo A IV gene studied included codon 9 (A to G, synonymous mutation), codon 347 (A to T, non-synonymous mutation), codon 360 (G to T, non-synonymous mutation), and Msp I polymorphism (CC/TGG) within intron 2.
The frequency of G allele at codon 9 in HTG group was higher than that in healthy controls(0.453 vs 0.366, P<0.05). The other polymorphic sites showed no significant differences of the allele frequencies between the two groups. The frequencies of rare alleles, such as G allele at codon 9, T allele at codon 347 and T allele at codon 360 polymorphic site were significantly different from those reported in European Caucasians (0.366 vs 0.032, P<0.001, 0.000 vs 0.160, P<0.001; 0.000 vs 0.070, P<0.001), but no differences were found when compared with those in Japanese, including Msp I site (P>0.05). In the healthy male control group, subjects with genotype G/G of codon 9 had a higher serum mean concentration of apoA I when compared with that of genotype A/A(P<0.01). In the HTG group, subjects with genotype C/T of Msp I site had a higher serum mean concentration of TG with compared with those with genotype C/C and T/T (P<0.05). This difference was only observed in male HTG group when male and female subgroups were further separated.
These results suggest that Msp I and codon 9 polymorphism in apoA IV gene are associated with endogenous hypertriglyceridemia to some extent in Chinese population.
本研究旨在探讨中国人群载脂蛋白AⅣ（apo AⅣ）基因变异及其与内源性高甘油三酯血症（HTG）的关系。
采用聚合酶链反应（PCR）扩增apoAⅣ基因，通过限制性片段长度多态性（RFLPs）和测序技术，对成都地区106例内源性高甘油三酯血症患者和171例健康汉族人群进行研究。所研究的apo AⅣ基因多态性位点包括第9密码子（A→G，同义突变）、第347密码子（A→T，非同义突变）、第360密码子（G→T，非同义突变）以及内含子2中的Msp I多态性（CC/TGG）。
HTG组第9密码子G等位基因频率高于健康对照组（0.453对0.366，P<0.05）。其他多态性位点两组间等位基因频率无显著差异。第9密码子G等位基因、第347密码子T等位基因和第360密码子多态性位点T等位基因等罕见等位基因频率与欧洲白种人报道的频率显著不同（0.366对0.032，P<0.001；0.000对0.160，P<0.001；0.000对0.070，P<0.001），但与日本人相比无差异，包括Msp I位点（P>0.05）。在健康男性对照组中，第9密码子G/G基因型受试者的血清apoA I平均浓度高于A/A基因型（P<0.01）。在HTG组中，Msp I位点C/T基因型受试者的血清TG平均浓度高于C/C和T/T基因型（P<0.
