• 1.四川省雅安市人民醫(yī)院肝膽外科（雅安625000）;;
  • 2.四川大學(xué)華西醫(yī)院普外科（成都610041）;

目的 　探討載脂蛋白（Apo）AⅠ-CⅢ-AⅣ基因簇多態(tài)性與膽囊膽固醇結(jié)石病的關(guān)系，揭示膽固醇結(jié)石病的遺傳易感性。
方法 　應(yīng)用多聚酶鏈反應(yīng)技術(shù)（PCR）對膽固醇結(jié)石病患者及正常對照者ApoAⅠ-CⅢ-AⅣ基因簇的限制性片段長度多態(tài)性進行研究，檢測ApoAⅠ-CⅢ-AⅣ基因位點XmnⅠ及MspⅠ。
結(jié)果 　膽石組和對照組均以X1、M1等位基因為主，多為X1X1、M1M1純合子基因型。膽石組各基因型和各等位基因頻率與對照組比較，差異無統(tǒng)計學(xué)意義（P gt;0.05）。膽石組女性患者正常型基因X1X1純合子頻率和正常等位基因X1的頻率低于對照組女性，突變型基因X1X2雜合子、X2X2純合子以及突變型等位基因X2的頻率均高于對照組女性，差異有統(tǒng)計學(xué)意義（P＜0.05）。膽石組男性患者正常型基因M1M1純合子頻率低于對照組男性，而突變型基因M1M2雜合子頻率高于對照組男性，差異有統(tǒng)計學(xué)意義（P＜0.05）。
結(jié)論 　ApoAⅠ-CⅢ-AⅣ基因簇XmnⅠ位點的多態(tài)性可能與女性膽囊膽固醇結(jié)石病有關(guān)，而MspⅠ位點的多態(tài)性可能與男性膽囊膽固醇結(jié)石病有關(guān)。

引用本文： 姚有貴,馬明坤,蒲道深,邱雄,何滿西,杜曉瑜,肖路加. 載脂蛋白AⅠ-CⅢ-AⅣ基因簇XmnⅠ、MspⅠ位點多態(tài)性與膽固醇結(jié)石病關(guān)系的研究. 中國普外基礎(chǔ)與臨床雜志, 2007, 14(3): 287-291. doi: 復(fù)制

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9. Lai CQ, Parnell LD, Ordovas JM. The APOA1/C3/A4/A5 gene cluster, lipid metabolism and cardiovascular disease risk [J]. Curr Opin Lipidol， 2005; 16(2)∶153.
10. Qi L, Liu S, Rifai N, et al. Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes [J]. Atherosclerosis， 2006; 6(15)∶[Epub ahead of print].
11. Soloway RD. Primary cholesterol hepatolithiasis: a disease with a different pathogenesis [J]. Hepatology， 1993; 17(4)∶737.
12. Kim MH, Sekijima J, Lee SP. Primary intrahepatic stones [J]. Am J Gastroenterol， 1995; 90(4)∶540.
13. Mendez-Sanchez N, Panduro A, Murguia D, et al. Hepatic apolipoprotein A-Ⅰ gene expression in patients with cholesterol gallstones treated with ursodeoxycholic acid [J]. Ann Hepatol， 2002; 1(2)∶85.
14. Juvonen T, Savolainen MJ, Kairaluoma MI, et al. Polymorphisms at the apoB, apoA-Ⅰ, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease [J]. J Lipid Res， 1995; 36(4)∶804.
15. Zhang Q, Cavanna J, Winkelmann BR, et al. Common genetic variants of lipoprotein lipase that related to lipid transport in patients with premature coronary artery disease [J]. Clin Genetics， 1995; 48（6）∶293.
16. Zhang Q, Liu Y, Liu BW, et al. Common genetic variants of lipoprotein lipase and apolipoproteins AⅠ-CⅢ that relate to coronary artery disease: a study in Chinese and European subjects [J]. Mol Genet Metab， 1998; 64(3)∶177.
  1. 1. Nakeeb A, Comuzzie AG, Martin L, et al. Gallstones: genetics versus environment [J]. Ann Surg, 2002; 235(6)∶842.
  2. 2. Cheung MC, Wolf AC, Lum KD, et al. Distribution and localization of lecithin: cholesterol acyltransferase and cholesteryl ester transfer activity in A-Ⅰ-containing lipoproteins [J]. J Lipid Res, 1986; 27(11)∶1135.
  3. 3. 顧建平， 黃桂余， 姜志宏, 等。 載脂蛋白B基因XbaⅠ多態(tài)性和膽囊結(jié)石病關(guān)系研究 [J]. 中華肝膽外科雜志, 2006; 9（1）∶44.
  4. 4. 孔凡民， 白濤， 郭仁宣, 等。 載脂蛋白E與膽囊膽固醇結(jié)石關(guān)系的研究 [J]. 中華普通外科雜志， 2000； 15（10）∶596.
  5. 5. Leren TP, Bakken KS, Daum U, et al. Heterozygosity for apolipoprotein A-Ⅰ(R160L)Oslo is associated with low levels of high density lipoprotein cholesterol and HDL-subclass LpA-Ⅰ/A-Ⅱ but normal levels of HDL-subclass LpA-Ⅰ [J]. J Lipid Res， 1997; 38(1)∶121.
  6. 6. Naganawa S, Ginsberg HN, Glickman RM, et al. Intestinal transcription and synthesis of apolipoprotein AⅠ is regulated by five natural polymorphisms upstream of the apolipoprotein CⅢ gene [J]. J Clin Invest， 1997; 99(8)∶1958.
  7. 7. 姚有貴， 李寧， 林琦遠, 等. 膽囊膽固醇結(jié)石患者血脂和載脂蛋白水平的觀察 [J]. 中國普外基礎(chǔ)與臨床雜志, 2002; 9（3）∶186.
  8. 8. Hallman DM, Srinivasan SR, Chen W, et al. Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels: the Bogalusa Heart Study [J]. Metabolism， 2006; 55(12)∶1574.
  9. 9. Lai CQ, Parnell LD, Ordovas JM. The APOA1/C3/A4/A5 gene cluster, lipid metabolism and cardiovascular disease risk [J]. Curr Opin Lipidol， 2005; 16(2)∶153.
  10. 10. Qi L, Liu S, Rifai N, et al. Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes [J]. Atherosclerosis， 2006; 6(15)∶[Epub ahead of print].
  11. 11. Soloway RD. Primary cholesterol hepatolithiasis: a disease with a different pathogenesis [J]. Hepatology， 1993; 17(4)∶737.
  12. 12. Kim MH, Sekijima J, Lee SP. Primary intrahepatic stones [J]. Am J Gastroenterol， 1995; 90(4)∶540.
  13. 13. Mendez-Sanchez N, Panduro A, Murguia D, et al. Hepatic apolipoprotein A-Ⅰ gene expression in patients with cholesterol gallstones treated with ursodeoxycholic acid [J]. Ann Hepatol， 2002; 1(2)∶85.
  14. 14. Juvonen T, Savolainen MJ, Kairaluoma MI, et al. Polymorphisms at the apoB, apoA-Ⅰ, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease [J]. J Lipid Res， 1995; 36(4)∶804.
  15. 15. Zhang Q, Cavanna J, Winkelmann BR, et al. Common genetic variants of lipoprotein lipase that related to lipid transport in patients with premature coronary artery disease [J]. Clin Genetics， 1995; 48（6）∶293.
  16. 16. Zhang Q, Liu Y, Liu BW, et al. Common genetic variants of lipoprotein lipase and apolipoproteins AⅠ-CⅢ that relate to coronary artery disease: a study in Chinese and European subjects [J]. Mol Genet Metab， 1998; 64(3)∶177.