皖西地区汉族人群载脂蛋白A5启动子区域基因多态性与血脂水平的相关性研究被引量：1

The study on associativity between polymorphism sites of a ApoA5 promoter region and level of serum lipid in normal chinese of han people in the west of Anhui province

下载PDF

导出

摘要目的研究安徽地区汉族健康人群中SNP3(ApoA5-1131T>C)基因型及等位基因频率分布特征并探讨ApoA5基因多态性与血脂水平的相关性。方法选择156例安徽地区无血缘关系健康汉族人群。采用PCR-RFLP方法检测其基因型,同时检测血清总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、极低密度脂蛋白(VLDL-C)水平。结果安徽地区健康人群ApoA5各基因型频率分别为:TT53.21%,TC30.12%,CC16.67%,各等位基因频率分别为:T68%,C32%,与中国其他地区及日本人群频率分布相似,但与印度及英国人群相比差异有统计学意义。TT、TC、CC三种基因型中,TC型与CC型的血TG水平明显高于TT型,CC型的血TG水平最高,但与TC型差异无统计学意义。C等位基因携带者(TC+CC)较非C等位基因携带者(TT)的血TG水平明显增高。女性C等位基因携带者的血TG水平较非C等位基因携带者明显增高,而两组的血TC、LDL、VLDL、HDL-C水平则差异无统计学意义。男性C等位基因携带者的血TG水平较非C等位基因携带者增高,但差异无统计学意义。结论①安徽地区汉族健康人群SNP3等位基因频率分布与中国其他地区人群及日本人群相似,但与印度及英国人群相比差异有统计学意义。②SNP3基因多态性与血TG水平升高有相关性,而与TC、LDL、VLDL、HDL-C水平无相关。 Objective To detect Apolipoprotein A5 （ ApoA5 ） polymorphism by polymerase chain reaction - restriction fragment the west of Anhui length polymorphism（ PCR - RFLP）. To study the APoA5 genotypes and its alleles frequencies distribution of normal Chinese of Han people from the west of Anhui province. To investigate the associativity between APoA5 polymorphism and the serum levels of the lipid and lipoproteins. Methods 156 normal Chinese without blood relation of Han people from the west of Anhui province were recruited, and designed the enzyme digestion site for restriction endonuclease MseI around - 1131 according to the promoter region of ApoA5 gene. PCR - RFLP were applied to detect the genetype as well as the serum levels of total cholesterol （ TC ）, triglyceride （ TG）, low density lipoprotein （LDL）, high density lipoprotein cholesterol （HDL）, and very low density lipoprotein （VLDL） , and the ApoA5 -1131 T 〉 C genotypes and its alleles frequencies distribution were calculated, and associativity between APoA.5 -1131T 〉 C polymorphism and the serum levels of the lipid and lipoproteins were analyzed. Results The frequency distribution of APoA5 genotypes of the normal Chinese of Han people from the west of Anhui province was ： TF ：53.21%, TC = 30.12% , CC =16.67% respectively, and the frequency distribution of the alleles was T = 0. 68, C = 0.32. The frequencies distribution of APoA5 genotypes and their alleles from the west of Anhui province were similar to who were from the other area of China and Japan, but there was a significant difference between them and the people who were from India and England （P 〈 0.05, P 〈0.01 ）. The blood levels of triglyceride（TG） in TC and CC genotypes were significantly higher than those in Tr type（P 〈 0. 05 ）, especially the serum level of TG which in CC type was the highest, but there was no significant difference between the TG in CC type and which in TC type（P 〉 0.05 ）. The CC type carriers （TC ＋ CC）had a significant increase in TG levels compared with non - c carriers （TF）（P 〈0.05）, and the blood levels of TC, LDL,VLDL, HDL- C had no significant difference between the two groups. The female C carries had a significant difference in TG levels compared with non - C carries （ P 〈 0.01 ）, meanwhile the serum level of TG in male C carries was higher than those in non - C carries, but no significant difference （ P 〉 0.05 ） o Conclusion The frequency distribution of APoA5 - 1131T 〉 C alleles of the normal Chinese of Han people from the west of Anhui province is similar to those from the other area of China and Japan, but there is significant difference between them and the people who were from India and England. There is an associativity between APoA5- 1131T 〉 C polymorphism and the serum level of TG, but no associativity between APoA5 polymorphism and the serum levels of TC, LDL, VLDL, HDL - C. The normal Chinese of Han people in the west of Anhui province who carries ApoA5 - 1131 C alleles are higher than the others, and it is associated with the increased sermn level of TG, especially in females.

作者王祺章秋

机构地区六安市人民医院内分泌科

出处《安徽医学》 2010年第5期429-435,共7页 Anhui Medical Journal

关键词载脂蛋白A5基因限制性片段长度多态性启动子基因多态性血脂 APOA5 gene PCR RFLP Promoter Polymorphism

分类号 R394 [医药卫生—医学遗传学]

引文网络
相关文献

参考文献19

1Steinberg D, Gotto AM. Preventing coronarg artery disease by lowing cholesterol levels:fifity years from bench to beside. JAMA, 1999,282:2043 - 2050.
2Pennacchio LA, Olivier M, Hvbacek JA, et al. An apolipoprotein influenling trighycerides in humans and mice revealeel by conparative sequenling. Science,2001,294 : 169 - 173.
3Vliet HN, Sammels MG, Leegwater AC, et al. Apolipoprotein A -V:a novel apolipoprotein associated with an early phase of liver regeneration. Biol Chem,2001,276 :44512 -44520.
4Pennacchio LA, Rubin EM . Comparative genomic tools and databases:providing insights into the human genome. Clin Invest ,2003,111 : 1099 - 1106.
5Martins NV, Humphries SE, Talmud PJ. Contribution of ApoA5 gene variant to plasma triglyceride determination and to the response to both fat and glucose tolerance challenge. Biochim Biophys Acta ,2003,1637:217 - 225.
6李向平,赵水平.载脂蛋白AⅤ的研究进展[J].中华医学杂志,2004,84(17):1491-1493. 被引量：2
7Weinberg RB,cook VR, Beckstead JA,et al. Structure and interfacial properties of human apolipoprotein A - V. J Biol Chem, 2003,278 ( 36 ) : 34348 - 34444.
8Beckstead JA, Oda MN, Martin DD, et al. Structure function studies of human apolipoprotein A - V : a regulator of plasma lipid homeostasis. Biochemistry, 2003,42 ( 31 ) : 9416 - 9423.
9Ribalta J, Figuera L, Fernanclez - Ballart J,et al. Newly identified apolipoprotein A - V gene predisposes to high plasma triglycerides in familial combined hyperlipidemia. Clin Chem, 2002,48 : 1597 - 600.
10Chandak GR,Ward KJ,Yajnik CS,et al. Triglyceride associated polymorphisms of the ApoA5 gene have very different allele frequencies in Pune , India compared to Europeans. BMC Med Genet,2006 ,7 :76.

二级参考文献42

1Pennacchio LA, Olivier M, Hubacek JA, et al. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science, 2001,294:169-173.
2Pennacchio LA, Rubin EM. Genomic strategies to identify mammalian regulatory sequences. Nat Rev Genet, 2001,2:100-109.
3Pennacchio LA, Rubin EM. Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice. Arterioscler Thromb Vasc Biol, 2003,23: 529-534.
4Van der Vliet HN, Schaap FG, Levels JH, et al. Adenoviral overexpression of apolipoprotein A-V reduces serum levels of triglycerides and cholesterol in mice. Biochem Biophys Res Commun, 2002,295:1156-1159.
5Weinberg RB, Cook VR, Beckstead JA, et al. Structure and interfacial properties of human apolipoprotein A-V. J Bol Chem, 2003,278:34438-34444
6Pennacchio LA, Olivier M, Hubacek JA, et al. Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum Mol Genet, 2002,11:3031-3038.
7Kao JT, Wen HC, Chien KL, et al. A novel genetic variant in the apolipoprotein A5 gene in associated with hypertriglyceridemia. Hum Mol Genet, 2003,1:2533-2539.
8Groenendijk M, Cantor RM, Blom NH, et al. Association of plasma lipids and apolipoproteins with the insulin response element in the apoC-Ⅲ promoter region in familial combined hyperlipidemia. J Lipid Res, 1999,40:1036-1044.
9Nabika T, Nasreen S, Kobayashi S, et al. The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese. Atherosclerosis, 2002,165:201-204.
10Endo K, Yanagi H, Araki J, et al. Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren. Hum Genet, 2002,111:570-572.