Association of 7α-Hydroxylase Gene Polymorphism with Cholesterol Cholecystolithiasis_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHAO Yan ¹ ,  YAO Yougui ²

1.Department of Medical Examination, Chengdu College of Medicine, Chengdu 610017, China;;
2.Department of General Surgery, People’s Hospital of Ya’an City, Ya’an 625000, Sichuan Province, China;

Corresponding?author：

YAO Yougui, Email: yyg3969@yahoo.com.cn

Keywords：

7α-hydroxylase; Cholesterol cholecystolithiasis; Restriction fragment length polymorphisms

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Objective To investigate the relationship between the polymorphism of 7α-hydroxylase (CYP7A1) and cholestero1 cholecystolithiasis.
Methods CYP7A-1 genotyping was performed by PCR-RFLP approach in 160 cholesterol cholecystolithiasis patients and 94 control subjects.
Results The frequencies of C, A allele of CYP7A1 gene were 83.75%, 16.25% in cholesterol cholecystolithiasis patients and 81.91% and 18.09% in control group. There was no significant difference in frequencies of allele and genotype in A-204C polymorphism between two groups (P gt;0.05). In control group and cholesterol cholecystolithiasis group， LDL-C levels in AA genotypes were lower than those in CC and CA genotype (P lt;0.05).
Conclusion The results indicate that no direct association is found between CYP7A-1 gene and cholesterol cholecystolithiasis，but there is significant correlation between the polymorphism of the CYP7A-1 gene and the levels of LDL-C.

Citation： ZHAO Yan ,YAO Yougui. Association of 7α-Hydroxylase Gene Polymorphism with Cholesterol Cholecystolithiasis. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2010, 17(1): 60-63. doi: Copy

1.	Nakeeb A, Comuzzie AG, Martin L, et al. Gallstones: genetics versus environment [J]. Ann Surg, 2002; 235(6): 842849.
2.	Wang HH, Portincasa P, MendezSanchez N, et al. Effect of ezetimibe on the prevention and dissolution of cholesterol gallstones [J]. Gastroenterology, 2008; 134(7): 21012110.
3.	馮怡燕, 李海. 基因多態性參與膽固醇結石發病機制的研究進展 [J]. 國際消化雜志, 2008; 29(3): 157159.
4.	李燕, 凌文華. 膽固醇和脂肪酸對CYP7A1的調節 [J]. 國外醫學內科學分冊, 2004; 31(1): 14.
5.	Kouji K, Margaret E, Brousseau, et al. A promoter polymorphism in cholesterol 7αhydroxylase interacts with apolipoprotein E genotype in the LDLlowering response to atorvastatin [J]. Atherosclerosis, 2005; 180(3): 407415.
6.	Barcelos AL, Chies R, Almeida SE, et al. Association of CYP7A1278A>C polymorphism and the response of plasma triglyceride after dietary intervention in dyslipidemic patients [J]. Braz J Med Biol Res, 2009; 42(6): 487493.
7.	Chan J, Donalson LM, Kushwaha RS, et al. Differential expression of hepatic genes involved in cholesterol homeostasis in high and lowresponding strains of laboratory opossums [J]. Metabolism, 2008; 57(5): 718724.
8.	Srivastava A, Pandey SN, Choudhuri G, et al. Role of genetic variant A204C of cholesterol 7αhydroxylase (CYP7A1) in susceptibility to gallbladder cancer [J]. Mol Genet Metab, 2008; 94(1): 8389.
9.	Lambrinoudaki IV, Kaparos GI, Vlachou SA, et al. CYP A204C polymorphism is associated with subclinical atherosclerosis in postmenopausal women [J]. Menopause, 2008; 15(6): 11631168.
10.	周斌, 張思仲, 肖翠英, 等. 膽固醇7α羥化酶基因A204C單核苷酸多態性及其與血漿血脂的關聯 [J]. 遺傳, 2004; 26(3): 283286.
11.	陸志強, 高鑫, 胡予, 等. 中國上海人群中膽固醇7α羥化酶基因多態性與高低密度脂蛋白膽固醇血癥的關系研究 [J]. 中國臨床醫學, 2001; 8(4): 378379.
12.	Couture P, Otvos JD, Cupples LA, et al. Association of the A204C polymorphism in the cholesterol 7αhydroxylase gene with variations in plasma low density lipoprotein cholesterol levels in the Framingham Offspring Study [J]. J Lipid Res, 1999; 40(10): 18831889.
13.	Jiang ZY, Jiang CY, Wang L, et al. Increased NPCIL1 and ACAT2 expression in the jejunal mucosa from Chinese gallstone patients [J]. Biochem Biophys Res Commun, 2009; 379(1): 4954.
14.	Juzyszyn Z, Kurzawski M, Modrzejewski A, et al. Lowdensity lipoprotein receptorrelated protein associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population [J]. Dig Liver Dis, 2008; 40(2): 122125.
15.	Hwang ES. Cholesterol gallstone formation in hypercholesterolemia [J]. Arch Pharm Res, 2009; 32(9): 11771178.
16.	Wang HH, Liu M, Clegg DJ, et al. New insights into the molecular mechanisms underlying effects of estrogen on cholesterol gallstone formation [J]. Biochim Biophys Acta, 2009; 1791(11): 10371047.
17.	韓天權, 蔣兆彥, 張圣道. 膽固醇結石形成機制的基因研究現狀與展望 [J]. 外科理論與實踐, 2009; 14(2): 125127.
18.	Zanlungo S, Rigotti A. Determinants of transhepatic cholesterol flux and their relevance for gallstone formation [J]. Liver Int, 2009; 29(3): 323330.
19.	姚有貴, 馬明坤, 蒲道深, 等. 載脂蛋白AⅠCⅢAⅣ基因簇XmnⅠ、MspⅠ位點多態性與膽固醇結石病關系的研究 [J]. 中國普外基礎與臨床雜志, 2007; 14(3): 287291.
20.	姚有貴, 馬明坤, 何滿西, 等. 膽囊膽固醇結石病與載脂蛋白AⅠCⅢAⅣ基因PstⅠ、SstⅠ位點多態性關聯的臨床實驗研究 [J]. 華西醫學, 2007; 22(1): 120122.
21.	Kovár J, Suchánek P, Hubácek JA, et al. The A204C polymorphism in the cholesterol 7αhydroxylase (CYP7A1) gene determines the cholesterolemia responsiveness to a highfat diet [J]. Physiol Res, 2004; 53(5): 565568.
22.	楊士勇, 王建承, 韓天權, 等. 膽固醇結石患者肝臟核受體基因表達的研究 [J]. 中國普外基礎與臨床雜志, 2008; 15(10): 751755.
23.	Kajinami K, Brousseau ME, Ordovas JM, et al. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterollowering response to atorvastatin [J]. Atherosclerosis, 2004; 175(2): 287293.
24.	Gilardi F, Mitro N, Godio C, et al .The pharmacological exploitation of cholesterol 7αhydroxylase, the key enzyme in bile acid synthesis: from binding resins to chromatin remodelling to reduce plasma cholesterol [J]. Pharmacol Ther, 2007; 116(3): 449472.

1. Nakeeb A, Comuzzie AG, Martin L, et al. Gallstones: genetics versus environment [J]. Ann Surg, 2002; 235(6): 842849.
2. Wang HH, Portincasa P, MendezSanchez N, et al. Effect of ezetimibe on the prevention and dissolution of cholesterol gallstones [J]. Gastroenterology, 2008; 134(7): 21012110.
3. 馮怡燕, 李海. 基因多態性參與膽固醇結石發病機制的研究進展 [J]. 國際消化雜志, 2008; 29(3): 157159.
4. 李燕, 凌文華. 膽固醇和脂肪酸對CYP7A1的調節 [J]. 國外醫學內科學分冊, 2004; 31(1): 14.
5. Kouji K, Margaret E, Brousseau, et al. A promoter polymorphism in cholesterol 7αhydroxylase interacts with apolipoprotein E genotype in the LDLlowering response to atorvastatin [J]. Atherosclerosis, 2005; 180(3): 407415.
6. Barcelos AL, Chies R, Almeida SE, et al. Association of CYP7A1278A>C polymorphism and the response of plasma triglyceride after dietary intervention in dyslipidemic patients [J]. Braz J Med Biol Res, 2009; 42(6): 487493.
7. Chan J, Donalson LM, Kushwaha RS, et al. Differential expression of hepatic genes involved in cholesterol homeostasis in high and lowresponding strains of laboratory opossums [J]. Metabolism, 2008; 57(5): 718724.
8. Srivastava A, Pandey SN, Choudhuri G, et al. Role of genetic variant A204C of cholesterol 7αhydroxylase (CYP7A1) in susceptibility to gallbladder cancer [J]. Mol Genet Metab, 2008; 94(1): 8389.
9. Lambrinoudaki IV, Kaparos GI, Vlachou SA, et al. CYP A204C polymorphism is associated with subclinical atherosclerosis in postmenopausal women [J]. Menopause, 2008; 15(6): 11631168.
10. 周斌, 張思仲, 肖翠英, 等. 膽固醇7α羥化酶基因A204C單核苷酸多態性及其與血漿血脂的關聯 [J]. 遺傳, 2004; 26(3): 283286.
11. 陸志強, 高鑫, 胡予, 等. 中國上海人群中膽固醇7α羥化酶基因多態性與高低密度脂蛋白膽固醇血癥的關系研究 [J]. 中國臨床醫學, 2001; 8(4): 378379.
12. Couture P, Otvos JD, Cupples LA, et al. Association of the A204C polymorphism in the cholesterol 7αhydroxylase gene with variations in plasma low density lipoprotein cholesterol levels in the Framingham Offspring Study [J]. J Lipid Res, 1999; 40(10): 18831889.
13. Jiang ZY, Jiang CY, Wang L, et al. Increased NPCIL1 and ACAT2 expression in the jejunal mucosa from Chinese gallstone patients [J]. Biochem Biophys Res Commun, 2009; 379(1): 4954.
14. Juzyszyn Z, Kurzawski M, Modrzejewski A, et al. Lowdensity lipoprotein receptorrelated protein associated protein (LRPAP1) gene IVS5 insertion/deletion polymorphism is not a risk factor for gallstone disease in a Polish population [J]. Dig Liver Dis, 2008; 40(2): 122125.
15. Hwang ES. Cholesterol gallstone formation in hypercholesterolemia [J]. Arch Pharm Res, 2009; 32(9): 11771178.
16. Wang HH, Liu M, Clegg DJ, et al. New insights into the molecular mechanisms underlying effects of estrogen on cholesterol gallstone formation [J]. Biochim Biophys Acta, 2009; 1791(11): 10371047.
17. 韓天權, 蔣兆彥, 張圣道. 膽固醇結石形成機制的基因研究現狀與展望 [J]. 外科理論與實踐, 2009; 14(2): 125127.
18. Zanlungo S, Rigotti A. Determinants of transhepatic cholesterol flux and their relevance for gallstone formation [J]. Liver Int, 2009; 29(3): 323330.
19. 姚有貴, 馬明坤, 蒲道深, 等. 載脂蛋白AⅠCⅢAⅣ基因簇XmnⅠ、MspⅠ位點多態性與膽固醇結石病關系的研究 [J]. 中國普外基礎與臨床雜志, 2007; 14(3): 287291.
20. 姚有貴, 馬明坤, 何滿西, 等. 膽囊膽固醇結石病與載脂蛋白AⅠCⅢAⅣ基因PstⅠ、SstⅠ位點多態性關聯的臨床實驗研究 [J]. 華西醫學, 2007; 22(1): 120122.
21. Kovár J, Suchánek P, Hubácek JA, et al. The A204C polymorphism in the cholesterol 7αhydroxylase (CYP7A1) gene determines the cholesterolemia responsiveness to a highfat diet [J]. Physiol Res, 2004; 53(5): 565568.
22. 楊士勇, 王建承, 韓天權, 等. 膽固醇結石患者肝臟核受體基因表達的研究 [J]. 中國普外基礎與臨床雜志, 2008; 15(10): 751755.
23. Kajinami K, Brousseau ME, Ordovas JM, et al. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterollowering response to atorvastatin [J]. Atherosclerosis, 2004; 175(2): 287293.
24. Gilardi F, Mitro N, Godio C, et al .The pharmacological exploitation of cholesterol 7αhydroxylase, the key enzyme in bile acid synthesis: from binding resins to chromatin remodelling to reduce plasma cholesterol [J]. Pharmacol Ther, 2007; 116(3): 449472.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Association of 7α-Hydroxylase Gene Polymorphism with Cholesterol Cholecystolithiasis

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