Association of apolipoprotein B gene rs676210 and rs2854725 polymorphisms with gallstone disease_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

 CHEN Min ¹ , ZHANG Tao ² , Kelimu ³

1. Department of Anorectal Surgery, People’s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, P.R.China;
2. Department of Trauma Emergency Surgery, People’s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, P.R.China;
3. Department of Minimally Invasive Hernia and Abdominal Surgery, People’s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, P.R.China;

Corresponding author：

CHEN Min, Email: doctorcmxj@163.com

Keywords：

apolipoprotein B; gallstone disease; gene polymorphism

DOI：

10.7507/1007-9424.201606032

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Objective To explore association of apolipoprotein B (ApoB) gene rs676210 and rs2854725polymorphisms with gallstone disease and differences of polymorphisms between Uygur population and Han population. Methods A case control study was used. One hundred and eighty-nine patients with gallstone disease from 2010 to 2014 in our hospital were collected, of which 99 cases of Uygur population and 90 cases of Han population. One hundred and ninety age- and sex-matched healthy volunteer accepted physical examination in our hospital over the same period were collected as control, of which 93 Uygur population and 97 Han population. The ApoB genotyping of DNA samples were amplified by using SNaPshot single nucleotide polymorphism (SNP). The differences of polymorphisms between Uygur population and Han population and between patients with gallstone disease and healthy volunteer were analyzed. Results ① The differences of ApoB gene rs676210 and rs2854725 allele frequencies were not found between the patients with gallstone disease and healthy volunteer whether Uygur population or Han population (Uygur population: rs676210:χ²=0.229,P=0.633; rs2854725:χ²=0.028,P=0.866. Han population: rs676210:χ²=0.608,P=0.435; rs2854725:χ²=2.673,P=0.102). ② The differences of ApoB gene rs676210 and rs2854725 allele frequencies were not found between Uygur population and Han population whether the patients with gallstone disease or healthy volunteer (Patients with gallstone disease: rs676210:χ²=0.103,P=0.748; rs2854725:χ²=3.139,P=0.076. Healthy volunteer: rs676210:χ²=0.000,P=0.990; rs2854725:χ²=2.673,P=0.102). ③ The differences of ApoB gene rs676210 and rs2854725 genotype frequencies were not found between the patients with gallstone disease and healthy volunteer whether Uygur population or Han population (Uygur population: rs676210:χ²=2.301,P=0.317; rs2854725:χ²=3.040,P=0.219. Han population: rs676210:χ²=4.909,P=0.086; rs2854725:χ²=0.107,P=0.744). ④ The differences of ApoB gene rs676210 and rs2854725 genotype frequencies were not found between Uygur population and Han population patients with gallstone disease (rs676210:χ²=0.235,P=0.899; rs2854725:χ²=3.630,P=0.057). The difference of ApoB gene rs676210 genotype frequency was not found between Uygur population and Han population with healthy volunteer (χ²=1.026,P=0.599). While the difference of ApoB gene rs2854725 genotype frequency was found between Han population and Uygur population with healthy volunteer (χ²=9.153,P=0.010). When it was compared in pairs,α=0.05/3=0.016, the difference of G/T and T/T frequencies was found between Uygur population and Han population (χ²=6.128,P=0.013), G/T of Han population (27.8%) was higher than that of Uygur population (12.9%). Conclusions ApoB gene rs676210 and rs2854725 polymorphisms are not associated with gallstone disease. For healthy volunteer, ApoB gene rs676210 polymorphism shows no ethnics-specific difference between Uygur population and Han population, but ApoB gene rs2854725 polymorphism mightbe show a difference between Uygur population and Han population. Larger sample sizes and multicenter study are needed to confirm it.

Citation： CHENMin, ZHANGTao, Kelimu. Association of apolipoprotein B gene rs676210 and rs2854725 polymorphisms with gallstone disease. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2017, 24(2): 215-221. doi: 10.7507/1007-9424.201606032 Copy

1.	Liu C, Yang J, Han W,et al. Polymorphisms in ApoB gene are associated with risk of myocardial infarction and serum ApoB levels in a Chinese population. Int J Clin Exp Med, 2015, 8(9): 16571-16577.
2.	Priestley L, Knott T, Wallis S,et al. RFLP for the human apolipoprotein B gene: V; XbaI. Nucleic Acids Res, 1985, 13(18): 6793.
3.	Huang LS, Miller DA, Bruns GA,et al. Mapping of the human ApoB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism. Proc Natl Acad Sci USA,1986, 83(3): 644-648.
4.	Ivanchenkova RA, At’kova ER. Gallstone disease and gallbladder cholesterosis: miscellaneous diseases or various manifestations of a single process. Eksp Klin Gastroenterol, 2011, (4): 92-98.
5.	Báez S, Tsuchiya Y, Calvo A,et al. Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women. World J Gastroenterol, 2010, 16(3): 372-378.
6.	Malaguarnera M, Vacante M, Russo C,et al. Lipoprotein (a) in cardiovascular diseases. Biomed Res Int, 2013, 2013: 650989.
7.	Schmidt C, Bergström G. Apolipoprotein B/apolipoprotein A-I ratio and apolipoprotein B: long-term predictors of myocardial infarction in initially healthy middle-aged men-a 13-year follow-up. Angiology, 2014, 65(10): 901-905.
8.	Misciagna G, Logroscino G, De Michele G,et al. Glycated apolipoprotein B and myocardial infarction. Nutr Metab Cardiovasc Dis, 2007, 17(1): 6-12.
9.	Beekman M, Heijmans BT, Martin NG,et al. Heritabilities of apolipoprotein and lipid levels in three countries. Twin Res, 2002, 5(2): 87-97.
10.	Wang Y, Cao Y, Li Y,et al. Genetic association of the ApoB and ApoA1 gene polymorphisms with the risk for alcohol-induced osteonecrosis of femoral head. Int J Clin Exp Pathol, 2015, 8(9): 11332-11339.
11.	Di Ciaula A, Wang DQ, Bonfrate L,et al. Current views on genetics and epigenetics of cholesterol gallstone disease. Cholesterol, 2013: 298421.
12.	Nikolajevic Starcevic J, Santl Letonja M, Praznikar ZJ,et al. Polymorphisms XbaI (rs693) and EcoRI (rs1042031) of the ApoB gene are associated with carotid plaques but not with carotid intima-media thickness in patients with diabetes mellitus type 2. Vasa, 2014, 43(3): 171-180.
13.	Liu FL, Lu WB, Niu WX. XbaI polymorphisms of apolipoprotein B gene: another risk factor of gallstone formation after radical gastrectomy. World J Gastroenterol, 2010, 16(20): 2549-2553.
14.	陆文彬, 刘凤林, 牛伟新. 载脂蛋白 B 和脂蛋白脂酶基因多态性与胃癌根治术后胆囊结石形成的关系. 中华胃肠外科杂志, 2010, 13(1): 68-71.
15.	Benn M, Nordestgaard BG, Jensen JS,et al. Polymorphism in APOB associated with increased low-density lipoprotein levels in both genders in the general population. J Clin Endocrinol Metab, 2005, 90(10): 5797-5803.
16.	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 Lipid Res, 1995, 36(4): 804-812.
17.	Mittal B, Mittal RD. Genetics of gallstone disease. J Postgraduate Med, 2002, 48(2): 149-152.
18.	Davis RA, Miyake JH, Hui TY,et al. Regulation of cholesterol 7α-hydroxylase: BAREly missing a SHP. J Lipid Res, 2002, 43(4): 533-543.
19.	van Mil SW, van der Woerd WL, van der Brugge G,et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology, 2004, 127(2): 379-384.
20.	Stender S, Frikke-Schmidt R, Benn M,et al. Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses. J Hepatol, 2013, 58(1): 126-133.
21.	Rudzińska K, Bogacz A, Kotrych D,et al. The APOB gene polymorphism in the pathogenesis of gallstone disease in pre- and postmenopausal women. Prz Menopauzalny, 2015, 14(1): 35-40.
22.	Srivastava N, Prakash J, Srivastava A,et al. Association of apolipoprotein B XbaI gene polymorphism and lipid profile in northern Indian obese. Indian J Hum Genet, 2013, 19(1): 26-31.
23.	Doo M, Won S, Kim Y. Association between the APOB rs1469513 polymorphism and obesity is modified by dietary fat intake in Koreans. Nutrition, 2015, 31(5): 653-658.
24.	Tarugi P, Averna M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem, 2011, 54: 81-107.
25.	Huang G, Zhong H, Re HM,et al. Coalition of DNA polymorphisms of ApoB and ApoAI genes is related with coronary artery disease in Kazaks. J Geriatr Cardiol, 2012, 9(1): 33-37.
26.	Gong Y, Zhan L, Bie P,et al. Roles of ApoB-100 gene polymorphisms and the risks of gallstones and gallbladder cancer: a meta-analysis. PLoS One, 2013, 8(4): e61456.
27.	Benn M. Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review. Atherosclerosis, 2009, 206(1): 17-30.
28.	Chasman DI, Paré G, Mora S,et al. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet, 2009, 5(11): e1000730.
29.	Teslovich TM, Musunuru K, Smith AV,et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature, 2010, 466(7307): 707-713.
30.	Mäkelä KM, Seppälä I, Hernesniemi JA,et al. Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium. Circ Cardiovasc Genet, 2013, 6(1): 73-81.
31.	Miller SA, Hooper AJ, Mantiri GA,et al. Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia. J Clin Lipidol, 2016, 10(3): 604-609.
32.	Chiou KR, Charng MJ. Genetic diagnosis of familial hypercholesterolemia in Han population Chinese. J Clin Lipidol, 2016, 10(3): 490-496.

1. Liu C, Yang J, Han W,et al. Polymorphisms in ApoB gene are associated with risk of myocardial infarction and serum ApoB levels in a Chinese population. Int J Clin Exp Med, 2015, 8(9): 16571-16577.
2. Priestley L, Knott T, Wallis S,et al. RFLP for the human apolipoprotein B gene: V; XbaI. Nucleic Acids Res, 1985, 13(18): 6793.
3. Huang LS, Miller DA, Bruns GA,et al. Mapping of the human ApoB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism. Proc Natl Acad Sci USA,1986, 83(3): 644-648.
4. Ivanchenkova RA, At’kova ER. Gallstone disease and gallbladder cholesterosis: miscellaneous diseases or various manifestations of a single process. Eksp Klin Gastroenterol, 2011, (4): 92-98.
5. Báez S, Tsuchiya Y, Calvo A,et al. Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women. World J Gastroenterol, 2010, 16(3): 372-378.
6. Malaguarnera M, Vacante M, Russo C,et al. Lipoprotein (a) in cardiovascular diseases. Biomed Res Int, 2013, 2013: 650989.
7. Schmidt C, Bergström G. Apolipoprotein B/apolipoprotein A-I ratio and apolipoprotein B: long-term predictors of myocardial infarction in initially healthy middle-aged men-a 13-year follow-up. Angiology, 2014, 65(10): 901-905.
8. Misciagna G, Logroscino G, De Michele G,et al. Glycated apolipoprotein B and myocardial infarction. Nutr Metab Cardiovasc Dis, 2007, 17(1): 6-12.
9. Beekman M, Heijmans BT, Martin NG,et al. Heritabilities of apolipoprotein and lipid levels in three countries. Twin Res, 2002, 5(2): 87-97.
10. Wang Y, Cao Y, Li Y,et al. Genetic association of the ApoB and ApoA1 gene polymorphisms with the risk for alcohol-induced osteonecrosis of femoral head. Int J Clin Exp Pathol, 2015, 8(9): 11332-11339.
11. Di Ciaula A, Wang DQ, Bonfrate L,et al. Current views on genetics and epigenetics of cholesterol gallstone disease. Cholesterol, 2013: 298421.
12. Nikolajevic Starcevic J, Santl Letonja M, Praznikar ZJ,et al. Polymorphisms XbaI (rs693) and EcoRI (rs1042031) of the ApoB gene are associated with carotid plaques but not with carotid intima-media thickness in patients with diabetes mellitus type 2. Vasa, 2014, 43(3): 171-180.
13. Liu FL, Lu WB, Niu WX. XbaI polymorphisms of apolipoprotein B gene: another risk factor of gallstone formation after radical gastrectomy. World J Gastroenterol, 2010, 16(20): 2549-2553.
14. 陆文彬, 刘凤林, 牛伟新. 载脂蛋白 B 和脂蛋白脂酶基因多态性与胃癌根治术后胆囊结石形成的关系. 中华胃肠外科杂志, 2010, 13(1): 68-71.
15. Benn M, Nordestgaard BG, Jensen JS,et al. Polymorphism in APOB associated with increased low-density lipoprotein levels in both genders in the general population. J Clin Endocrinol Metab, 2005, 90(10): 5797-5803.
16. 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 Lipid Res, 1995, 36(4): 804-812.
17. Mittal B, Mittal RD. Genetics of gallstone disease. J Postgraduate Med, 2002, 48(2): 149-152.
18. Davis RA, Miyake JH, Hui TY,et al. Regulation of cholesterol 7α-hydroxylase: BAREly missing a SHP. J Lipid Res, 2002, 43(4): 533-543.
19. van Mil SW, van der Woerd WL, van der Brugge G,et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology, 2004, 127(2): 379-384.
20. Stender S, Frikke-Schmidt R, Benn M,et al. Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses. J Hepatol, 2013, 58(1): 126-133.
21. Rudzińska K, Bogacz A, Kotrych D,et al. The APOB gene polymorphism in the pathogenesis of gallstone disease in pre- and postmenopausal women. Prz Menopauzalny, 2015, 14(1): 35-40.
22. Srivastava N, Prakash J, Srivastava A,et al. Association of apolipoprotein B XbaI gene polymorphism and lipid profile in northern Indian obese. Indian J Hum Genet, 2013, 19(1): 26-31.
23. Doo M, Won S, Kim Y. Association between the APOB rs1469513 polymorphism and obesity is modified by dietary fat intake in Koreans. Nutrition, 2015, 31(5): 653-658.
24. Tarugi P, Averna M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem, 2011, 54: 81-107.
25. Huang G, Zhong H, Re HM,et al. Coalition of DNA polymorphisms of ApoB and ApoAI genes is related with coronary artery disease in Kazaks. J Geriatr Cardiol, 2012, 9(1): 33-37.
26. Gong Y, Zhan L, Bie P,et al. Roles of ApoB-100 gene polymorphisms and the risks of gallstones and gallbladder cancer: a meta-analysis. PLoS One, 2013, 8(4): e61456.
27. Benn M. Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review. Atherosclerosis, 2009, 206(1): 17-30.
28. Chasman DI, Paré G, Mora S,et al. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet, 2009, 5(11): e1000730.
29. Teslovich TM, Musunuru K, Smith AV,et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature, 2010, 466(7307): 707-713.
30. Mäkelä KM, Seppälä I, Hernesniemi JA,et al. Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium. Circ Cardiovasc Genet, 2013, 6(1): 73-81.
31. Miller SA, Hooper AJ, Mantiri GA,et al. Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia. J Clin Lipidol, 2016, 10(3): 604-609.
32. Chiou KR, Charng MJ. Genetic diagnosis of familial hypercholesterolemia in Han population Chinese. J Clin Lipidol, 2016, 10(3): 490-496.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Association of apolipoprotein B gene rs676210 and rs2854725 polymorphisms with gallstone disease

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