The relationship of high density lipoprotein cholesterol and cholesterol ester transfer protein TaqIB mutation in non-arteritic anterior ischemic optic neuropathy_Chinese Journal of Ocular Fundus Diseases

Authors：

WangXiaodong , WangTong ,  ZhangHongbing

Department of Ophthalmology, The First Hospital of Xi'an, Xi'an 710002, China;

Corresponding author：

ZhangHongbing, Email: zhanghongbing01@163.com

Keywords：

Optic neuropathy; ischemic/etiology; Cholesterol; HDL/genetics; Cholesterol ester transfer proteins/genetics; Alleles; Gene frequency; Polymorphism; genetic/genetics

DOI：

10.3760/cma.j.issn.1005-1015.2016.06.006

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Objective To investigate the association of high density lipoprotein cholesterol (HDL-C) and cholesterol ester transfer protein (CETP) TaqIB mutation with non-arteritic anterior ischemic optic neuropathy (NA-AION) in the Shaanxi Han ethnic population. Methods The study cohort consisted of 45 individuals that had been diagnosed with NA-AION and 45 healthy controls (matched for age, gender). None of the cases or controls had a history of diabetes, serious cardio-cerebral vascular diseases, liver and kidney dysfunction that might influence plasma lipid levels. Plasma HDL-C was detected by enzyme-linked immunosorbent one-step, through the Toshiba TBA-40FR automatic biochemical analyzer. CETP TaqIB gene polymorphism was determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques for analysis. B2B2 genotype was only a fluorescence band with 535 bp; B1B1 genotype was 2 fluorescence bands with 361, 174 bp; B1B2 genotype was 3 fluorescence bands with 535, 361, 174 bp. The relative risk of genotype, HDL-C and disease occurrence was analyzed by logistics regression analysis. Results There have no significant difference between NA-AION patients and controls about plasma total cholesterol level and triglyceride level (t=1.907, 1.877; P > 0.05). The plasma HDL-C levels were significantly lower in NA-AION patients than in controls (t=2.367, P=0.022). Compared with controls, the prevalence of B1B1 genotype and B1 allele was higher (χ²=17.289, P=0.001), the prevalence of B2 allele (χ²=15.648, P=0.000) was lower in NA-AION patients. The lower concentration of HDL-C was risk factor of NA-AION (odds ratio=6.143, 95% confidence interval 1.262-29.895, χ²=27.676;P=0.013). The proportion of B1B1 genotype was significantly higher in NA-AION patients than in controls (odds ratio=2.24, 95% confidence interval 2.427-36.323, χ²=10.526; P=0.001). Conclusions The low plasma HDL-C is independent risk factor for NA-AION and is associated with the development of NA-AION in the Shaanxi Han ethnic population. CETP TaqIB mutation is associated with low plasma HDL-C in NA-AION in the Shaanxi Han ethnic population.

Citation： WangXiaodong, WangTong, ZhangHongbing. The relationship of high density lipoprotein cholesterol and cholesterol ester transfer protein TaqIB mutation in non-arteritic anterior ischemic optic neuropathy. Chinese Journal of Ocular Fundus Diseases, 2016, 32(6): 587-590. doi: 10.3760/cma.j.issn.1005-1015.2016.06.006 Copy

1.	中华医学会眼科学分会神经眼科学组.我国非动脉炎性前部缺血性视神经病变诊断和治疗专家共识(2015年)[J].中华眼科杂, 2015, 51(5):323-326.DOI:10.3760/cma.j.issn.0412-4081.2015.05.002.The Chinese medical association Branch nerve ophthalmology group.The expert consensus of diagonsis and treatment of nonarteritic ischemic optic neuropathy (2015)[J].Chin J Ophthalmol, 2015, 51(5):323-326.DOI:10.3760/cma.j.issn.0412-4081.2015.05.002.
2.	Quarta G, Stanzione R, Evangelista A, et al.A protective role of a cholesteryl ester transfer protein gene variant towards ischaemic stroke in Sardinians[J].J Intern Med, 2007, 262(5):555-561.
3.	Ortiz-Munoz G, Couret D, Lapergue B, et al.Dysfunctional HDL in acute stroke[J].Atherosclerosis, 2016, 253:75-80.DOI:10.1016/j.atherosclerosis.2016.08.035.
4.	刘静, 赵冬, 刘飒, 等.胆固醇酯转运蛋白基因TaqⅠB多态性和血浆浓度的人群分布特征和相互关系[J].中华流行病学杂志, 2003, 24(4):300-303.DOI:10.3760/j.issn.0254-6450.2003.04.014.Liu J, Zhao D, Liu S, et al.Study on the distribution and association of cholesteryl ester transfer protein-Taq ⅠB polymorphism and plasma concentration in general population[J].Chin J Epidemiol, 2003, 24(4):300-303.DOI:10.3760/j.issn.0254-6450.2003.04.014.
5.	Mendis S, Shepherd J, Packard CJ, et al.Genetic variation in the cholesteryl ester transfer protein and apolipoprotein A-Ⅰ genes and its relation to coronary heart disease in a Sri Lankan population[J].Atherosclerosis, 1990, 83(1):21-27.
6.	Hsu LA, Ko YL, Hsu KH, et al.Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese[J].Hum Genet, 2002, 110(1):57-63.
7.	Kondol L, Berg K, Drayna D, et al.DNA Polymorphism at the loeus for human cholesteryl ester transfer protein (CETP) is assoeiated with high density lipoprotein cholesterol and apolipoprotein levels[J].Clin Genet, 1989, 35(1):49-56.
8.	Shu M, Izumi T, Mitsuru M, et al.Cholesteryl ester transfer protein polymorphism associated with macroangiopathy in Japanese patients with type 2 diabetes[J].Atheroselerosis, 2001, 156(1):151-156.
9.	Hong SH, Kim YR, Song J, et al.Genetic variations of cholesterol ester transfer protein gene in Koreans[J].Hum Biol, 2001, 73(6):815-821.
10.	Arai H, Yamamoto A, Matsuzawa Y, et al.Polymorphisms in four gene related to triglyeeride and HDL-cholesterol levels in the general Japanese population in 2000[J].J Atheroscler Thromb, 2005, 12(5):240-250.
11.	Boekholdt SM, Sacks FM, Jukema JW, et al.Cholesteryl ester transfer protein TaqⅠB variant, high-density lipoprotein cholesterol levels, cardiovascular risk, and efficacy of pravastatin treatment:individual patient meta-analysis of 13, 677 subjects[J].Circulation, 2005, 111(3):278-287.
12.	Corella D, Sáiz C, Guillén M, et al.Association of TaqⅠB polymorphism in the cholesteryl ester transfer protein gene with plasma lipid levels in a healthy Spanish population[J].Atherosclerosis, 2000, 152(2):367-376.
13.	Miltiadous G, Hatzivassiliou M, Liberopoulos E, et al.Gene polymorphisms affecting HDL-cholesterol levels in the normolipidemic population[J].Nutr Metab Cardiovasc Dis, 2005, 15(3):219-224.
14.	Cuchel M, Wolfe ML, DeLemos AS, et al.The frequency of the cholesteryl ester transfer protein-TaqⅠB B2 allele is lower in African Americans than in Caucasian[J].Atherosclerosis, 2002, 163(1):169-174.
15.	Mitchell RJ, Earl L, Williams J, et al.Polymorphisms of the gene coding for the cholesteryl ester transfer protein and plasma lipid levels in italian and Greek migrants to Australia[J].Hum Biol, 1994, 66(1):13-25.
16.	王润生, 朱赛林, 陈青山.前部缺血性视神经病变血液流变学分析[J].中华眼科杂志, 1998, 34(3):196-198.Wang RS, Zhu SL, Chen QS.Hemorrheologic analyses of anterior ischemic optic neuropathy[J].Chin J Ophthalmol, 1998, 34(3):196-198.
17.	Aviram M, Kaplan M, Rosenblat M, et al.Dietary antioxidants and paraoxonases against LDL oxidation and atherosclerosis development[J].Handb Exp Pharmacol, 2005(170):263-300.
18.	Park SH, Park JH, Kangol JS, et al.Involvement of transcription factors in plasma HDL protection against TNF-α-induced vascular cell adhesion molecule-1 expression[J].Int J Biochem Cell Biol, 2003, 35(2):168-182.

1. 中华医学会眼科学分会神经眼科学组.我国非动脉炎性前部缺血性视神经病变诊断和治疗专家共识(2015年)[J].中华眼科杂, 2015, 51(5):323-326.DOI:10.3760/cma.j.issn.0412-4081.2015.05.002.The Chinese medical association Branch nerve ophthalmology group.The expert consensus of diagonsis and treatment of nonarteritic ischemic optic neuropathy (2015)[J].Chin J Ophthalmol, 2015, 51(5):323-326.DOI:10.3760/cma.j.issn.0412-4081.2015.05.002.
2. Quarta G, Stanzione R, Evangelista A, et al.A protective role of a cholesteryl ester transfer protein gene variant towards ischaemic stroke in Sardinians[J].J Intern Med, 2007, 262(5):555-561.
3. Ortiz-Munoz G, Couret D, Lapergue B, et al.Dysfunctional HDL in acute stroke[J].Atherosclerosis, 2016, 253:75-80.DOI:10.1016/j.atherosclerosis.2016.08.035.
4. 刘静, 赵冬, 刘飒, 等.胆固醇酯转运蛋白基因TaqⅠB多态性和血浆浓度的人群分布特征和相互关系[J].中华流行病学杂志, 2003, 24(4):300-303.DOI:10.3760/j.issn.0254-6450.2003.04.014.Liu J, Zhao D, Liu S, et al.Study on the distribution and association of cholesteryl ester transfer protein-Taq ⅠB polymorphism and plasma concentration in general population[J].Chin J Epidemiol, 2003, 24(4):300-303.DOI:10.3760/j.issn.0254-6450.2003.04.014.
5. Mendis S, Shepherd J, Packard CJ, et al.Genetic variation in the cholesteryl ester transfer protein and apolipoprotein A-Ⅰ genes and its relation to coronary heart disease in a Sri Lankan population[J].Atherosclerosis, 1990, 83(1):21-27.
6. Hsu LA, Ko YL, Hsu KH, et al.Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese[J].Hum Genet, 2002, 110(1):57-63.
7. Kondol L, Berg K, Drayna D, et al.DNA Polymorphism at the loeus for human cholesteryl ester transfer protein (CETP) is assoeiated with high density lipoprotein cholesterol and apolipoprotein levels[J].Clin Genet, 1989, 35(1):49-56.
8. Shu M, Izumi T, Mitsuru M, et al.Cholesteryl ester transfer protein polymorphism associated with macroangiopathy in Japanese patients with type 2 diabetes[J].Atheroselerosis, 2001, 156(1):151-156.
9. Hong SH, Kim YR, Song J, et al.Genetic variations of cholesterol ester transfer protein gene in Koreans[J].Hum Biol, 2001, 73(6):815-821.
10. Arai H, Yamamoto A, Matsuzawa Y, et al.Polymorphisms in four gene related to triglyeeride and HDL-cholesterol levels in the general Japanese population in 2000[J].J Atheroscler Thromb, 2005, 12(5):240-250.
11. Boekholdt SM, Sacks FM, Jukema JW, et al.Cholesteryl ester transfer protein TaqⅠB variant, high-density lipoprotein cholesterol levels, cardiovascular risk, and efficacy of pravastatin treatment:individual patient meta-analysis of 13, 677 subjects[J].Circulation, 2005, 111(3):278-287.
12. Corella D, Sáiz C, Guillén M, et al.Association of TaqⅠB polymorphism in the cholesteryl ester transfer protein gene with plasma lipid levels in a healthy Spanish population[J].Atherosclerosis, 2000, 152(2):367-376.
13. Miltiadous G, Hatzivassiliou M, Liberopoulos E, et al.Gene polymorphisms affecting HDL-cholesterol levels in the normolipidemic population[J].Nutr Metab Cardiovasc Dis, 2005, 15(3):219-224.
14. Cuchel M, Wolfe ML, DeLemos AS, et al.The frequency of the cholesteryl ester transfer protein-TaqⅠB B2 allele is lower in African Americans than in Caucasian[J].Atherosclerosis, 2002, 163(1):169-174.
15. Mitchell RJ, Earl L, Williams J, et al.Polymorphisms of the gene coding for the cholesteryl ester transfer protein and plasma lipid levels in italian and Greek migrants to Australia[J].Hum Biol, 1994, 66(1):13-25.
16. 王润生, 朱赛林, 陈青山.前部缺血性视神经病变血液流变学分析[J].中华眼科杂志, 1998, 34(3):196-198.Wang RS, Zhu SL, Chen QS.Hemorrheologic analyses of anterior ischemic optic neuropathy[J].Chin J Ophthalmol, 1998, 34(3):196-198.
17. Aviram M, Kaplan M, Rosenblat M, et al.Dietary antioxidants and paraoxonases against LDL oxidation and atherosclerosis development[J].Handb Exp Pharmacol, 2005(170):263-300.
18. Park SH, Park JH, Kangol JS, et al.Involvement of transcription factors in plasma HDL protection against TNF-α-induced vascular cell adhesion molecule-1 expression[J].Int J Biochem Cell Biol, 2003, 35(2):168-182.

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The relationship of high density lipoprotein cholesterol and cholesterol ester transfer protein TaqIB mutation in non-arteritic anterior ischemic optic neuropathy

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