Relation Between Polymorphisms of XmnⅠand MspⅠ Sites in Apolipoprotein AⅠ-CⅢ-AⅣ Gene Cluster and Cholesterol Cholecystolithiasis_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

YAO Yougui ¹ , MA Mingkun ¹ , PU Daoshen ¹ , QIU Xiong ¹ , HE Manxi ¹ , DU Xiaoyu ¹ , XIAO Lujia ²

Department of Hepatobiliary Surgery, Ya’an People’s Hospital, Ya’an 625000, China;

Corresponding author：

Keywords：

载脂蛋白AⅠ-CⅢ-AⅣ基因簇; 胆囊结石病; 限制性片段长度多态性

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Objective　 To investigate the frequency of variant at XmnⅠ, MspⅠ sites of apolipoprotein (Apo) AⅠ-CⅢ-AⅣ gene cluster and its relation to cholesterol cholecystolithiasis in Chinese population.
Methods 　The restriction fragment length polymorphisms (RFLP) at Xmn Ⅰ, MspⅠ sites of ApoAⅠ-CⅢ-AⅣ gene cluster was studied by using polymerase chain reaction (PCR) in healthy subjects (control group) and patients with gallstones(gallstone group) from a population of Chinese with the Han nationality in Sichuan Province.
Results 　The X1, M1 alleles were the major alleles in both gallstone group and control group, and X1X1, M1M homozygous genotypes were the most frequent ones. The frequencies of X1X2, X2X2 and X2 alleles in female patients of the gallstone group were significantly higher than those in female of control group (P＜0.05), and the frequencies of X1X1 and X1 alleles in control group were significantly higher than those in gallstone group (P＜0.05). The frequencies of M1M1 in male patients of the gallstone group were significantly lower than those in male of control group (P＜0.05), whereas, the frequencies of M1M2 were significantly higher in gallstone group (P＜0.05).
Conclusion 　The polymorphism of XmnⅠ RFLP of ApoAⅠ-CⅢ-AⅣ gene cluster in female and the polymorphism of MspⅠ RFLP of ApoAⅠ-CⅢ-AⅣ gene cluster in male may be associated with cholesterol cholecystolithiasis in Chinese population.

Citation： YAO Yougui,MA Mingkun,PU Daoshen,QIU Xiong,HE Manxi,DU Xiaoyu,XIAO Lujia. Relation Between Polymorphisms of XmnⅠand MspⅠ Sites in Apolipoprotein AⅠ-CⅢ-AⅣ Gene Cluster and Cholesterol Cholecystolithiasis. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2007, 14(3): 287-291. doi: Copy

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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.	顾建平，黄桂余，姜志宏, 等。载脂蛋白B基因XbaⅠ多态性和胆囊结石病关系研究 [J]. 中华肝胆外科杂志, 2006; 9（1）∶44.
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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.	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.	姚有贵，李宁，林琦远, 等. 胆囊胆固醇结石患者血脂和载脂蛋白水平的观察 [J]. 中国普外基础与临床杂志, 2002; 9（3）∶186.
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.	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. Nakeeb A, Comuzzie AG, Martin L, et al. Gallstones: genetics versus environment [J]. Ann Surg, 2002; 235(6)∶842.
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. 顾建平，黄桂余，姜志宏, 等。载脂蛋白B基因XbaⅠ多态性和胆囊结石病关系研究 [J]. 中华肝胆外科杂志, 2006; 9（1）∶44.
4. 孔凡民，白涛，郭仁宣, 等。载脂蛋白E与胆囊胆固醇结石关系的研究 [J]. 中华普通外科杂志， 2000； 15（10）∶596.
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. 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. 姚有贵，李宁，林琦远, 等. 胆囊胆固醇结石患者血脂和载脂蛋白水平的观察 [J]. 中国普外基础与临床杂志, 2002; 9（3）∶186.
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. 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.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Relation Between Polymorphisms of XmnⅠand MspⅠ Sites in Apolipoprotein AⅠ-CⅢ-AⅣ Gene Cluster and Cholesterol Cholecystolithiasis

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